ANK1 c.5544+146A>T

Variant ID: 8-41519248-T-A

NM_000037.3(ANK1):c.5544+146A>T

This variant was identified in 54 publications

View GRCh38 version.




Publications:


Investigating causality in the association between DNA methylation and type 2 diabetes using bidirectional two-sample Mendelian randomisation.

Diabetologia
Juvinao-Quintero, Diana L DL; Sharp, Gemma C GC; Sanderson, Eleanor C M ECM; Relton, Caroline L CL; Elliott, Hannah R HR
Publication Date: 2023-05-19

Variant appearance in text: rs516946
PubMed Link: 37202507
Variant Present in the following documents:
  • 125_2023_5914_MOESM1_ESM.pdf
View BVdb publication page



The Potential of ANK1 to Predict Parkinson's Disease.

Genes
Xue, Jinsong J; Li, Fan F; Dai, Peng P
Publication Date: 2023-01-15

Variant appearance in text: rs516946
PubMed Link: 36672967
Variant Present in the following documents:
  • Main text
  • genes-14-00226.pdf
View BVdb publication page



Using Recurrent Neural Networks for Predicting Type-2 Diabetes from Genomic and Tabular Data.

Diagnostics (Basel, Switzerland)
Srinivasu, Parvathaneni Naga PN; Shafi, Jana J; Krishna, T Balamurali TB; Sujatha, Canavoy Narahari CN; Praveen, S Phani SP; Ijaz, Muhammad Fazal MF
Publication Date: 2022-12-06

Variant appearance in text: rs516946
PubMed Link: 36553074
Variant Present in the following documents:
  • diagnostics-12-03067.pdf
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs516946
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



The SNP rs516946 Interacted in the Association of MetS with Dietary Iron among Chinese Males but Not Females.

Nutrients
Zhu, Zhenni Z; Wang, Zhengyuan Z; Zang, Jiajie J; Lu, Ye Y; Xiao, Ziyi Z; Zheng, Guangyong G; Wu, Fan F
Publication Date: 2022-05-12

Variant appearance in text: rs516946
PubMed Link: 35631165
Variant Present in the following documents:
  • Main text
  • nutrients-14-02024.pdf
View BVdb publication page



Gene-Environment Interaction on Type 2 Diabetes Risk among Chinese Adults Born in Early 1960s.

Genes
Song, Chao C; Gong, Weiyan W; Ding, Caicui C; Wang, Rui R; Fang, Hongyun H; Liu, Ailing A
Publication Date: 2022-04-05

Variant appearance in text: rs516946
PubMed Link: 35456451
Variant Present in the following documents:
  • genes-13-00645.pdf
View BVdb publication page



The Association between Fasting Glucose and Sugar Sweetened Beverages Intake Is Greater in Latin Americans with a High Polygenic Risk Score for Type 2 Diabetes Mellitus.

Nutrients
López-Portillo, María Lourdes ML; Huidobro, Andrea A; Tobar-Calfucoy, Eduardo E; Yáñez, Cristian C; Retamales-Ortega, Rocío R; Garrido-Tapia, Macarena M; Acevedo, Johanna J; Paredes, Fabio F; Cid-Ossandon, Vicente V; Ferreccio, Catterina C; Verdugo, Ricardo A RA
Publication Date: 2021-12-24

Variant appearance in text: rs516946
PubMed Link: 35010944
Variant Present in the following documents:
  • Main text
  • nutrients-14-00069.pdf
View BVdb publication page



The Association between Fasting Glucose and Sugar Sweetened Beverages Intake Is Greater in Latin Americans with a High Polygenic Risk Score for Type 2 Diabetes Mellitus.

Nutrients
López-Portillo, María Lourdes ML; Huidobro, Andrea A; Tobar-Calfucoy, Eduardo E; Yáñez, Cristian C; Retamales-Ortega, Rocío R; Garrido-Tapia, Macarena M; Acevedo, Johanna J; Paredes, Fabio F; Cid-Ossandon, Vicente V; Ferreccio, Catterina C; Verdugo, Ricardo A RA
Publication Date: 2021-12-24

Variant appearance in text: rs516946
PubMed Link: 35010944
Variant Present in the following documents:
  • Main text
  • nutrients-14-00069.pdf
View BVdb publication page



Pharmacogenetic association of diabetes-associated genetic risk score with rapid progression of coronary artery calcification following treatment with HMG-CoA-reductase inhibitors -results of the Heinz Nixdorf Recall Study.

Naunyn-Schmiedeberg'S Archives Of Pharmacology
Pechlivanis, Sonali S; Jung, Dominik D; Moebus, Susanne S; Lehmann, Nils N; Mahabadi, Amir A AA; Hoffmann, Per P; Erbel, Raimund R; Nöthen, Markus M MM; Bachmann, Hagen S HS
Publication Date: 2021-08

Variant appearance in text: rs516946
PubMed Link: 34021798
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs516946
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Ten SNPs May Affect Type 2 Diabetes Risk in Interaction with Prenatal Exposure to Chinese Famine.

Nutrients
Song, Chao C; Ding, Caicui C; Yuan, Fan F; Feng, Ganyu G; Ma, Yanning Y; Liu, Ailing A
Publication Date: 2020-12-18

Variant appearance in text: rs516946
PubMed Link: 33353041
Variant Present in the following documents:
  • Main text
  • nutrients-12-03880.pdf
View BVdb publication page



Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D.

Nature Communications
Viñuela, Ana A; Varshney, Arushi A; van de Bunt, Martijn M; Prasad, Rashmi B RB; Asplund, Olof O; Bennett, Amanda A; Boehnke, Michael M; Brown, Andrew A AA; Erdos, Michael R MR; Fadista, João J; Hansson, Ola O; Hatem, Gad G; Howald, Cédric C; Iyengar, Apoorva K AK; Johnson, Paul P; Krus, Ulrika U; MacDonald, Patrick E PE; Mahajan, Anubha A; Manning Fox, Jocelyn E JE; Narisu, Narisu N; Nylander, Vibe V; Orchard, Peter P; Oskolkov, Nikolay N; Panousis, Nikolaos I NI; Payne, Anthony A; Stitzel, Michael L ML; Vadlamudi, Swarooparani S; Welch, Ryan R; Collins, Francis S FS; Mohlke, Karen L KL; Gloyn, Anna L AL; Scott, Laura J LJ; Dermitzakis, Emmanouil T ET; Groop, Leif L; Parker, Stephen C J SCJ; McCarthy, Mark I MI
Publication Date: 2020-09-30

Variant appearance in text: rs516946
PubMed Link: 32999275
Variant Present in the following documents:
  • 41467_2020_18581_MOESM1_ESM.pdf
View BVdb publication page



Obesity, clinical, and genetic predictors for glycemic progression in Chinese patients with type 2 diabetes: A cohort study using the Hong Kong Diabetes Register and Hong Kong Diabetes Biobank.

Plos Medicine
Jiang, Guozhi G; Luk, Andrea O AO; Tam, Claudia H T CHT; Lau, Eric S ES; Ozaki, Risa R; Chow, Elaine Y K EYK; Kong, Alice P S APS; Lim, Cadmon K P CKP; Lee, Ka Fai KF; Siu, Shing Chung SC; Hui, Grace G; Tsang, Chiu Chi CC; Lau, Kam Piu KP; Leung, Jenny Y Y JYY; Tsang, Man-Wo MW; Kam, Grace G; Lau, Ip Tim IT; Li, June K JK; Yeung, Vincent T VT; Lau, Emmy E; Lo, Stanley S; Fung, Samuel K S SKS; Cheng, Yuk Lun YL; Chow, Chun Chung CC; Pearson, Ewan R ER; So, Wing Yee WY; Chan, Juliana C N JCN; Ma, Ronald C W RCW; , ; ,
Publication Date: 2020-07

Variant appearance in text: rs516946
PubMed Link: 32722720
Variant Present in the following documents:
  • Main text
  • pmed.1003209.pdf
View BVdb publication page



Identification of type 2 diabetes loci in 433,540 East Asian individuals.

Nature
Spracklen, Cassandra N CN; Horikoshi, Momoko M; Kim, Young Jin YJ; Lin, Kuang K; Bragg, Fiona F; Moon, Sanghoon S; Suzuki, Ken K; Tam, Claudia H T CHT; Tabara, Yasuharu Y; Kwak, Soo-Heon SH; Takeuchi, Fumihiko F; Long, Jirong J; Lim, Victor J Y VJY; Chai, Jin-Fang JF; Chen, Chien-Hsiun CH; Nakatochi, Masahiro M; Yao, Jie J; Choi, Hyeok Sun HS; Iyengar, Apoorva K AK; Perrin, Hannah J HJ; Brotman, Sarah M SM; van de Bunt, Martijn M; Gloyn, Anna L AL; Below, Jennifer E JE; Boehnke, Michael M; Bowden, Donald W DW; Chambers, John C JC; Mahajan, Anubha A; McCarthy, Mark I MI; Ng, Maggie C Y MCY; Petty, Lauren E LE; Zhang, Weihua W; Morris, Andrew P AP; Adair, Linda S LS; Akiyama, Masato M; Bian, Zheng Z; Chan, Juliana C N JCN; Chang, Li-Ching LC; Chee, Miao-Li ML; Chen, Yii-Der Ida YI; Chen, Yuan-Tsong YT; Chen, Zhengming Z; Chuang, Lee-Ming LM; Du, Shufa S; Gordon-Larsen, Penny P; Gross, Myron M; Guo, Xiuqing X; Guo, Yu Y; Han, Sohee S; Howard, Annie-Green AG; Huang, Wei W; Hung, Yi-Jen YJ; Hwang, Mi Yeong MY; Hwu, Chii-Min CM; Ichihara, Sahoko S; Isono, Masato M; Jang, Hye-Mi HM; Jiang, Guozhi G; Jonas, Jost B JB; Kamatani, Yoichiro Y; Katsuya, Tomohiro T; Kawaguchi, Takahisa T; Khor, Chiea-Chuen CC; Kohara, Katsuhiko K; Lee, Myung-Shik MS; Lee, Nanette R NR; Li, Liming L; Liu, Jianjun J; Luk, Andrea O AO; Lv, Jun J; Okada, Yukinori Y; Pereira, Mark A MA; Sabanayagam, Charumathi C; Shi, Jinxiu J; Shin, Dong Mun DM; So, Wing Yee WY; Takahashi, Atsushi A; Tomlinson, Brian B; Tsai, Fuu-Jen FJ; van Dam, Rob M RM; Xiang, Yong-Bing YB; Yamamoto, Ken K; Yamauchi, Toshimasa T; Yoon, Kyungheon K; Yu, Canqing C; Yuan, Jian-Min JM; Zhang, Liang L; Zheng, Wei W; Igase, Michiya M; Cho, Yoon Shin YS; Rotter, Jerome I JI; Wang, Ya-Xing YX; Sheu, Wayne H H WHH; Yokota, Mitsuhiro M; Wu, Jer-Yuarn JY; Cheng, Ching-Yu CY; Wong, Tien-Yin TY; Shu, Xiao-Ou XO; Kato, Norihiro N; Park, Kyong-Soo KS; Tai, E-Shyong ES; Matsuda, Fumihiko F; Koh, Woon-Puay WP; Ma, Ronald C W RCW; Maeda, Shiro S; Millwood, Iona Y IY; Lee, Juyoung J; Kadowaki, Takashi T; Walters, Robin G RG; Kim, Bong-Jo BJ; Mohlke, Karen L KL; Sim, Xueling X
Publication Date: 2020-06

Variant appearance in text: rs516946
PubMed Link: 32499647
Variant Present in the following documents:
  • Main text
  • nihms-1570876.pdf
View BVdb publication page



A Replication Study Identified Seven SNPs Associated with Quantitative Traits of Type 2 Diabetes among Chinese Population in A Cross-Sectional Study.

International Journal Of Environmental Research And Public Health
Yuan, Fan F; Li, Hui H; Song, Chao C; Fang, Hongyun H; Wang, Rui R; Zhang, Yan Y; Gong, Weiyan W; Liu, Ailing A
Publication Date: 2020-04-03

Variant appearance in text: rs516946
PubMed Link: 32260174
Variant Present in the following documents:
  • Main text
  • ijerph-17-02439-s001.pdf
  • ijerph-17-02439.pdf
View BVdb publication page



Quality of dietary fat and genetic risk of type 2 diabetes: individual participant data meta-analysis.

Bmj (Clinical Research Ed.)
Merino, Jordi J; Guasch-Ferré, Marta M; Ellervik, Christina C; Dashti, Hassan S HS; Sharp, Stephen J SJ; Wu, Peitao P; Overvad, Kim K; Sarnowski, Chloé C; Kuokkanen, Mikko M; Lemaitre, Rozenn N RN; Justice, Anne E AE; Ericson, Ulrika U; Braun, Kim V E KVE; Mahendran, Yuvaraj Y; Frazier-Wood, Alexis C AC; Sun, Dianjianyi D; Chu, Audrey Y AY; Tanaka, Toshiko T; Luan, Jian'an J; Hong, Jaeyoung J; Tjønneland, Anne A; Ding, Ming M; Lundqvist, Annamari A; Mukamal, Kenneth K; Rohde, Rebecca R; Schulz, Christina-Alexandra CA; Franco, Oscar H OH; Grarup, Niels N; Chen, Yii-Der Ida YI; Bazzano, Lydia L; Franks, Paul W PW; Buring, Julie E JE; Langenberg, Claudia C; Liu, Ching-Ti CT; Hansen, Torben T; Jensen, Majken K MK; Sääksjärvi, Katri K; Psaty, Bruce M BM; Young, Kristin L KL; Hindy, George G; Sandholt, Camilla Helene CH; Ridker, Paul M PM; Ordovas, Jose M JM; Meigs, James B JB; Pedersen, Oluf O; Kraft, Peter P; Perola, Markus M; North, Kari E KE; Orho-Melander, Marju M; Voortman, Trudy T; Toft, Ulla U; Rotter, Jerome I JI; Qi, Lu L; Forouhi, Nita G NG; Mozaffarian, Dariush D; Sørensen, Thorkild I A TIA; Stampfer, Meir J MJ; Männistö, Satu S; Selvin, Elizabeth E; Imamura, Fumiaki F; Salomaa, Veikko V; Hu, Frank B FB; Wareham, Nick J NJ; Dupuis, Josée J; Smith, Caren E CE; Kilpeläinen, Tuomas O TO; Chasman, Daniel I DI; Florez, Jose C JC
Publication Date: 2019-07-25

Variant appearance in text: rs516946
PubMed Link: 31345923
Variant Present in the following documents:
  • merj043363.ww1.pdf
View BVdb publication page



No significant association of type 2 diabetes-related genetic risk scores with glycated haemoglobin levels after initiating metformin or sulphonylurea derivatives.

Diabetes, Obesity & Metabolism
Martono, Doti P DP; Heerspink, Hiddo J L HJL; Hak, Eelko E; Denig, Petra P; Wilffert, Bob B
Publication Date: 2019-10

Variant appearance in text: rs516946
PubMed Link: 31168905
Variant Present in the following documents:
  • Main text
View BVdb publication page



Causal Factors for Knee, Hip, and Hand Osteoarthritis: A Mendelian Randomization Study in the UK Biobank.

Arthritis & Rheumatology (Hoboken, N.J.)
Funck-Brentano, Thomas T; Nethander, Maria M; Movérare-Skrtic, Sofia S; Richette, Pascal P; Ohlsson, Claes C
Publication Date: 2019-10

Variant appearance in text: rs516946
PubMed Link: 31099188
Variant Present in the following documents:
  • ART-71-1634-s001.pdf
View BVdb publication page



Effects of variants of 50 genes on diabetes risk among the Chinese population born in the early 1960s.

Journal Of Diabetes
Song, Chao C; Wang, Meng M; Fang, Hongyun H; Gong, Weiyan W; Mao, Deqian D; Ding, Caicui C; Fu, Qiqi Q; Feng, Ganyu G; Chen, Zheng Z; Ma, Yanning Y; Yao, Yecheng Y; Liu, Ailing A
Publication Date: 2019-11

Variant appearance in text: rs516946
PubMed Link: 30907055
Variant Present in the following documents:
  • Main text
  • JDB-11-857.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs516946
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Additional common variants associated with type 2 diabetes and coronary artery disease detected using a pleiotropic cFDR method.

Journal Of Diabetes And Its Complications
Zhang, Qiang Q; Liu, Hui-Min HM; Lv, Wan-Qiang WQ; He, Jing-Yang JY; Xia, Xin X; Zhang, Wei-Dong WD; Deng, Hong-Wen HW; Sun, Chang-Qing CQ
Publication Date: 2018-12

Variant appearance in text: rs516946
PubMed Link: 30270018
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between genetic risk variants and glucose intolerance during pregnancy in north Indian women.

Bmc Medical Genomics
Arora, Geeti P GP; Almgren, Peter P; Brøns, Charlotte C; Thaman, Richa G RG; Vaag, Allan A AA; Groop, Leif L; Prasad, Rashmi B RB
Publication Date: 2018-08-08

Variant appearance in text: rs516946
PubMed Link: 30089489
Variant Present in the following documents:
  • Main text
  • 12920_2018_Article_380.pdf
View BVdb publication page



Causal Impact of Type 2 Diabetes Mellitus on Cerebral Small Vessel Disease: A Mendelian Randomization Analysis.

Stroke
Liu, Junfeng J; Rutten-Jacobs, Loes L; Liu, Ming M; Markus, Hugh S HS; Traylor, Matthew M
Publication Date: 2018-06

Variant appearance in text: rs516946
PubMed Link: 29686024
Variant Present in the following documents:
  • str-49-1325-s001.pdf
View BVdb publication page



Genetic determinants of glycated hemoglobin levels in the Greenlandic Inuit population.

European Journal Of Human Genetics : Ejhg
Appel, Emil V R EVR; Moltke, Ida I; Jørgensen, Marit E ME; Bjerregaard, Peter P; Linneberg, Allan A; Pedersen, Oluf O; Albrechtsen, Anders A; Hansen, Torben T; Grarup, Niels N
Publication Date: 2018-06

Variant appearance in text: rs516946
PubMed Link: 29483669
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of a novel de novo ANK1 R1426* nonsense mutation in a Chinese family with hereditary spherocytosis by NGS.

Oncotarget
Wang, Xiong X; Yi, Bin B; Mu, Ketao K; Shen, Na N; Zhu, Yaowu Y; Hu, Qun Q; Lu, Yanjun Y
Publication Date: 2017-11-14

Variant appearance in text: rs516946
PubMed Link: 29228571
Variant Present in the following documents:
  • oncotarget-08-96791-s002.xlsx, sheet 1
View BVdb publication page



Influence of genetic ancestry and socioeconomic status on type 2 diabetes in the diverse Colombian populations of Chocó and Antioquia.

Scientific Reports
Chande, Aroon T AT; Rowell, Jessica J; Rishishwar, Lavanya L; Conley, Andrew B AB; Norris, Emily T ET; Valderrama-Aguirre, Augusto A; Medina-Rivas, Miguel A MA; Jordan, I King IK
Publication Date: 2017-12-07

Variant appearance in text: rs516946
PubMed Link: 29215035
Variant Present in the following documents:
  • 41598_2017_17380_MOESM1_ESM.pdf
View BVdb publication page



Association of ANK1 variants with new-onset type 2 diabetes in a Han Chinese population from northeast China.

Experimental And Therapeutic Medicine
Sun, Lulu L; Zhang, Xuelong X; Wang, Tongtong T; Chen, Meijun M; Qiao, Hong H
Publication Date: 2017-10

Variant appearance in text: rs516946
PubMed Link: 28912869
Variant Present in the following documents:
  • Main text
View BVdb publication page



CDKAL1 rs7756992 is associated with diabetic retinopathy in a Chinese population with type 2 diabetes.

Scientific Reports
Peng, Danfeng D; Wang, Jie J; Zhang, Rong R; Jiang, Feng F; Tam, Claudia H T CHT; Jiang, Guozhi G; Wang, Tao T; Chen, Miao M; Yan, Jing J; Wang, Shiyun S; Yan, Dandan D; He, Zhen Z; Ma, Ronald C W RCW; Bao, Yuqian Y; Hu, Cheng C; Jia, Weiping W
Publication Date: 2017-08-18

Variant appearance in text: rs516946
PubMed Link: 28821857
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs516946
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



A Genome-Wide Association Study of IVGTT-Based Measures of First-Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants.

Diabetes
Wood, Andrew R AR; Jonsson, Anna A; Jackson, Anne U AU; Wang, Nan N; van Leewen, Nienke N; Palmer, Nicholette D ND; Kobes, Sayuko S; Deelen, Joris J; Boquete-Vilarino, Lorena L; Paananen, Jussi J; Stančáková, Alena A; Boomsma, Dorret I DI; de Geus, Eco J C EJC; Eekhoff, Elisabeth M W EMW; Fritsche, Andreas A; Kramer, Mark M; Nijpels, Giel G; Simonis-Bik, Annemarie A; van Haeften, Timon W TW; Mahajan, Anubha A; Boehnke, Michael M; Bergman, Richard N RN; Tuomilehto, Jaakko J; Collins, Francis S FS; Mohlke, Karen L KL; Banasik, Karina K; Groves, Christopher J CJ; McCarthy, Mark I MI; , ; Pearson, Ewan R ER; Natali, Andrea A; Mari, Andrea A; Buchanan, Thomas A TA; Taylor, Kent D KD; Xiang, Anny H AH; Gjesing, Anette P AP; Grarup, Niels N; Eiberg, Hans H; Pedersen, Oluf O; Chen, Yii-Derr YD; Laakso, Markku M; Norris, Jill M JM; Smith, Ulf U; Wagenknecht, Lynne E LE; Baier, Leslie L; Bowden, Donald W DW; Hansen, Torben T; Walker, Mark M; Watanabe, Richard M RM; 't Hart, Leen M LM; Hanson, Robert L RL; Frayling, Timothy M TM
Publication Date: 2017-08

Variant appearance in text: rs516946
PubMed Link: 28490609
Variant Present in the following documents:
  • Main text
  • db161452.pdf
View BVdb publication page



Genetics of Type 2 Diabetes in U.S. Hispanic/Latino Individuals: Results From the Hispanic Community Health Study/Study of Latinos (HCHS/SOL).

Diabetes
Qi, Qibin Q; Stilp, Adrienne M AM; Sofer, Tamar T; Moon, Jee-Young JY; Hidalgo, Bertha B; Szpiro, Adam A AA; Wang, Tao T; Ng, Maggie C Y MCY; Guo, Xiuqing X; , ; Chen, Yii-Der Ida YI; Taylor, Kent D KD; Aviles-Santa, M Larissa ML; Papanicolaou, George G; Pankow, James S JS; Schneiderman, Neil N; Laurie, Cathy C CC; Rotter, Jerome I JI; Kaplan, Robert C RC
Publication Date: 2017-05

Variant appearance in text: rs516946
PubMed Link: 28254843
Variant Present in the following documents:
  • DB161150SupplementaryData.pdf
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Several type 2 diabetes-associated variants in genes annotated to WNT signaling interact with dietary fiber in relation to incidence of type 2 diabetes.

Genes & Nutrition
Hindy, George G; Mollet, Inês G IG; Rukh, Gull G; Ericson, Ulrika U; Orho-Melander, Marju M
Publication Date: 2016

Variant appearance in text: rs516946
PubMed Link: 27551309
Variant Present in the following documents:
  • 12263_2016_524_MOESM1_ESM.pdf
View BVdb publication page



Investigating shared aetiology between type 2 diabetes and major depressive disorder in a population based cohort.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Clarke, Toni-Kim TK; Obsteter, Jana J; Hall, Lynsey S LS; Hayward, Caroline C; Thomson, Pippa A PA; Smith, Blair H BH; Padmanabhan, Sandosh S; Hocking, Lynne J LJ; Deary, Ian J IJ; Porteous, David J DJ; McIntosh, Andrew M AM
Publication Date: 2017-04

Variant appearance in text: rs516946
PubMed Link: 27480393
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic regulatory signature of type 2 diabetes in human skeletal muscle.

Nature Communications
Scott, Laura J LJ; Erdos, Michael R MR; Huyghe, Jeroen R JR; Welch, Ryan P RP; Beck, Andrew T AT; Wolford, Brooke N BN; Chines, Peter S PS; Didion, John P JP; Narisu, Narisu N; Stringham, Heather M HM; Taylor, D Leland DL; Jackson, Anne U AU; Vadlamudi, Swarooparani S; Bonnycastle, Lori L LL; Kinnunen, Leena L; Saramies, Jouko J; Sundvall, Jouko J; Albanus, Ricardo D'Oliveira RD; Kiseleva, Anna A; Hensley, John J; Crawford, Gregory E GE; Jiang, Hui H; Wen, Xiaoquan X; Watanabe, Richard M RM; Lakka, Timo A TA; Mohlke, Karen L KL; Laakso, Markku M; Tuomilehto, Jaakko J; Koistinen, Heikki A HA; Boehnke, Michael M; Collins, Francis S FS; Parker, Stephen C J SC
Publication Date: 2016-06-29

Variant appearance in text: rs516946
PubMed Link: 27353450
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel type 2 diabetes risk allele increases the promoter activity of the muscle-specific small ankyrin 1 gene.

Scientific Reports
Yan, Rengna R; Lai, Shanshan S; Yang, Yang Y; Shi, Hongfei H; Cai, Zhenming Z; Sorrentino, Vincenzo V; Du, Hong H; Chen, Huimei H
Publication Date: 2016-04-28

Variant appearance in text: rs516946
PubMed Link: 27121283
Variant Present in the following documents:
  • Main text
  • srep25105.pdf
View BVdb publication page



Type 2 Diabetes Prevention: Implications of Hemoglobin A1c Genetics.

The Review Of Diabetic Studies : Rds
Leong, Aaron A; Meigs, James B JB
Publication Date: 2015

Variant appearance in text: rs516946
PubMed Link: 27111120
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assignment of Functional Relevance to Genes at Type 2 Diabetes-Associated Loci Through Investigation of β-Cell Mass Deficits.

Molecular Endocrinology (Baltimore, Md.)
O'Hare, Elizabeth A EA; Yerges-Armstrong, Laura M LM; Perry, James A JA; Shuldiner, Alan R AR; Zaghloul, Norann A NA
Publication Date: 2016-04

Variant appearance in text: rs516946
PubMed Link: 26963759
Variant Present in the following documents:
  • Main text
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Evaluation of Genome Wide Association Study Associated Type 2 Diabetes Susceptibility Loci in Sub Saharan Africans.

Frontiers In Genetics
Adeyemo, Adebowale A AA; Tekola-Ayele, Fasil F; Doumatey, Ayo P AP; Bentley, Amy R AR; Chen, Guanjie G; Huang, Hanxia H; Zhou, Jie J; Shriner, Daniel D; Fasanmade, Olufemi O; Okafor, Godfrey G; Eghan, Benjamin B; Agyenim-Boateng, Kofi K; Adeleye, Jokotade J; Balogun, Williams W; Elkahloun, Abdel A; Chandrasekharappa, Settara S; Owusu, Samuel S; Amoah, Albert A; Acheampong, Joseph J; Johnson, Thomas T; Oli, Johnnie J; Adebamowo, Clement C; Collins, Francis F; Dunston, Georgia G; Rotimi, Charles N CN
Publication Date: 2015

Variant appearance in text: rs516946
PubMed Link: 26635871
Variant Present in the following documents:
  • Main text
  • fgene-06-00335.pdf
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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs516946
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
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Genetics of Type 2 Diabetes and Clinical Utility.

Genes
Dorajoo, Rajkumar R; Liu, Jianjun J; Boehm, Bernhard O BO
Publication Date: 2015-06-23

Variant appearance in text: rs516946
PubMed Link: 26110315
Variant Present in the following documents:
  • Main text
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A Mendelian randomization study of the effect of type-2 diabetes on coronary heart disease.

Nature Communications
Ahmad, Omar S OS; Morris, John A JA; Mujammami, Muhammad M; Forgetta, Vincenzo V; Leong, Aaron A; Li, Rui R; Turgeon, Maxime M; Greenwood, Celia M T CM; Thanassoulis, George G; Meigs, James B JB; Sladek, Robert R; Richards, J Brent JB
Publication Date: 2015-05-28

Variant appearance in text: rs516946
PubMed Link: 26017687
Variant Present in the following documents:
  • Main text
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Replication Study in a Japanese Population to Evaluate the Association between 10 SNP Loci, Identified in European Genome-Wide Association Studies, and Type 2 Diabetes.

Plos One
Matsuba, Ren R; Sakai, Kensuke K; Imamura, Minako M; Tanaka, Yasushi Y; Iwata, Minoru M; Hirose, Hiroshi H; Kaku, Kohei K; Maegawa, Hiroshi H; Watada, Hirotaka H; Tobe, Kazuyuki K; Kashiwagi, Atsunori A; Kawamori, Ryuzo R; Maeda, Shiro S
Publication Date: 2015

Variant appearance in text: rs516946
PubMed Link: 25951451
Variant Present in the following documents:
  • Main text
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Genetics of type 2 diabetes-pitfalls and possibilities.

Genes
Prasad, Rashmi B RB; Groop, Leif L
Publication Date: 2015-03-12

Variant appearance in text: rs516946
PubMed Link: 25774817
Variant Present in the following documents:
  • Main text
  • genes-06-00087.pdf
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Sixty-five common genetic variants and prediction of type 2 diabetes.

Diabetes
Talmud, Philippa J PJ; Cooper, Jackie A JA; Morris, Richard W RW; Dudbridge, Frank F; Shah, Tina T; Engmann, Jorgen J; Dale, Caroline C; White, Jon J; McLachlan, Stela S; Zabaneh, Delilah D; Wong, Andrew A; Ong, Ken K KK; Gaunt, Tom T; Holmes, Michael V MV; Lawlor, Debbie A DA; Richards, Marcus M; Hardy, Rebecca R; Kuh, Diana D; Wareham, Nicholas N; Langenberg, Claudia C; Ben-Shlomo, Yoav Y; Wannamethee, S Goya SG; Strachan, Mark W J MW; Kumari, Meena M; Whittaker, John C JC; Drenos, Fotios F; Kivimaki, Mika M; Hingorani, Aroon D AD; Price, Jacqueline F JF; Humphries, Steve E SE; ,
Publication Date: 2015-05

Variant appearance in text: rs516946
PubMed Link: 25475436
Variant Present in the following documents:
  • supp_db14-1504_DB141504SupplementaryData.pdf
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A comparison of type 2 diabetes risk allele load between African Americans and European Americans.

Human Genetics
Keaton, Jacob M JM; Cooke Bailey, Jessica N JN; Palmer, Nicholette D ND; Freedman, Barry I BI; Langefeld, Carl D CD; Ng, Maggie C Y MC; Bowden, Donald W DW
Publication Date: 2014-12

Variant appearance in text: rs516946
PubMed Link: 25273842
Variant Present in the following documents:
  • Main text
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Genetics of type 2 diabetes: insights into the pathogenesis and its clinical application.

Biomed Research International
Sun, Xue X; Yu, Weihui W; Hu, Cheng C
Publication Date: 2014

Variant appearance in text: rs516946
PubMed Link: 24864266
Variant Present in the following documents:
  • Main text
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Gene-lifestyle interaction and type 2 diabetes: the EPIC interact case-cohort study.

Plos Medicine
Langenberg, Claudia C; Sharp, Stephen J SJ; Franks, Paul W PW; Scott, Robert A RA; Deloukas, Panos P; Forouhi, Nita G NG; Froguel, Philippe P; Groop, Leif C LC; Hansen, Torben T; Palla, Luigi L; Pedersen, Oluf O; Schulze, Matthias B MB; Tormo, Maria-Jose MJ; Wheeler, Eleanor E; Agnoli, Claudia C; Arriola, Larraitz L; Barricarte, Aurelio A; Boeing, Heiner H; Clarke, Geraldine M GM; Clavel-Chapelon, Françoise F; Duell, Eric J EJ; Fagherazzi, Guy G; Kaaks, Rudolf R; Kerrison, Nicola D ND; Key, Timothy J TJ; Khaw, Kay Tee KT; Kröger, Janine J; Lajous, Martin M; Morris, Andrew P AP; Navarro, Carmen C; Nilsson, Peter M PM; Overvad, Kim K; Palli, Domenico D; Panico, Salvatore S; Quirós, J Ramón JR; Rolandsson, Olov O; Sacerdote, Carlotta C; Sánchez, María-José MJ; Slimani, Nadia N; Spijkerman, Annemieke M W AM; Tumino, Rosario R; van der A, Daphne L DL; van der Schouw, Yvonne T YT; Barroso, Inês I; McCarthy, Mark I MI; Riboli, Elio E; Wareham, Nicholas J NJ
Publication Date: 2014-05

Variant appearance in text: rs516946
PubMed Link: 24845081
Variant Present in the following documents:
  • Main text
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Insights into the genetic basis of type 2 diabetes.

Journal Of Diabetes Investigation
Kato, Norihiro N
Publication Date: 2013-05-06

Variant appearance in text: rs516946
PubMed Link: 24843659
Variant Present in the following documents:
  • Main text
  • jdi-4-233.pdf
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The architecture of risk for type 2 diabetes: understanding Asia in the context of global findings.

International Journal Of Endocrinology
Abdullah, Noraidatulakma N; Attia, John J; Oldmeadow, Christopher C; Scott, Rodney J RJ; Holliday, Elizabeth G EG
Publication Date: 2014

Variant appearance in text: rs516946
PubMed Link: 24744783
Variant Present in the following documents:
  • Main text
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Current Insights into the Joint Genetic Basis of Type 2 Diabetes and Coronary Heart Disease.

Current Cardiovascular Risk Reports
Dauriz, Marco M; Meigs, James B JB
Publication Date: 2014-01-01

Variant appearance in text: rs516946
PubMed Link: 24729826
Variant Present in the following documents:
  • Main text
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Polygenic type 2 diabetes prediction at the limit of common variant detection.

Diabetes
Vassy, Jason L JL; Hivert, Marie-France MF; Porneala, Bianca B; Dauriz, Marco M; Florez, Jose C JC; Dupuis, Josée J; Siscovick, David S DS; Fornage, Myriam M; Rasmussen-Torvik, Laura J LJ; Bouchard, Claude C; Meigs, James B JB
Publication Date: 2014-06

Variant appearance in text: rs516946
PubMed Link: 24520119
Variant Present in the following documents:
  • 2172.pdf
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Pleiotropy and pathway analyses of genetic variants associated with both type 2 diabetes and prostate cancer.

International Journal Of Molecular Epidemiology And Genetics
Raynor, L A LA; Pankow, James S JS; Rasmussen-Torvik, Laura J LJ; Tang, Weihong W; Prizment, Anna A; Couper, David J DJ
Publication Date: 2013

Variant appearance in text: rs516946
PubMed Link: 23565322
Variant Present in the following documents:
  • Main text
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What will diabetes genomes tell us?

Current Diabetes Reports
Mohlke, Karen L KL; Scott, Laura J LJ
Publication Date: 2012-12

Variant appearance in text: rs516946
PubMed Link: 22983892
Variant Present in the following documents:
  • Main text
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Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

Nature Genetics
Morris, Andrew P AP; Voight, Benjamin F BF; Teslovich, Tanya M TM; Ferreira, Teresa T; Segrè, Ayellet V AV; Steinthorsdottir, Valgerdur V; Strawbridge, Rona J RJ; Khan, Hassan H; Grallert, Harald H; Mahajan, Anubha A; Prokopenko, Inga I; Kang, Hyun Min HM; Dina, Christian C; Esko, Tonu T; Fraser, Ross M RM; Kanoni, Stavroula S; Kumar, Ashish A; Lagou, Vasiliki V; Langenberg, Claudia C; Luan, Jian'an J; Lindgren, Cecilia M CM; Müller-Nurasyid, Martina M; Pechlivanis, Sonali S; Rayner, N William NW; Scott, Laura J LJ; Wiltshire, Steven S; Yengo, Loic L; Kinnunen, Leena L; Rossin, Elizabeth J EJ; Raychaudhuri, Soumya S; Johnson, Andrew D AD; Dimas, Antigone S AS; Loos, Ruth J F RJ; Vedantam, Sailaja S; Chen, Han H; Florez, Jose C JC; Fox, Caroline C; Liu, Ching-Ti CT; Rybin, Denis D; Couper, David J DJ; Kao, Wen Hong L WH; Li, Man M; Cornelis, Marilyn C MC; Kraft, Peter P; Sun, Qi Q; van Dam, Rob M RM; Stringham, Heather M HM; Chines, Peter S PS; Fischer, Krista K; Fontanillas, Pierre P; Holmen, Oddgeir L OL; Hunt, Sarah E SE; Jackson, Anne U AU; Kong, Augustine A; Lawrence, Robert R; Meyer, Julia J; Perry, John R B JR; Platou, Carl G P CG; Potter, Simon S; Rehnberg, Emil E; Robertson, Neil N; Sivapalaratnam, Suthesh S; Stančáková, Alena A; Stirrups, Kathleen K; Thorleifsson, Gudmar G; Tikkanen, Emmi E; Wood, Andrew R AR; Almgren, Peter P; Atalay, Mustafa M; Benediktsson, Rafn R; Bonnycastle, Lori L LL; Burtt, Noël N; Carey, Jason J; Charpentier, Guillaume G; Crenshaw, Andrew T AT; Doney, Alex S F AS; Dorkhan, Mozhgan M; Edkins, Sarah S; Emilsson, Valur V; Eury, Elodie E; Forsen, Tom T; Gertow, Karl K; Gigante, Bruna B; Grant, George B GB; Groves, Christopher J CJ; Guiducci, Candace C; Herder, Christian C; Hreidarsson, Astradur B AB; Hui, Jennie J; James, Alan A; Jonsson, Anna A; Rathmann, Wolfgang W; Klopp, Norman N; Kravic, Jasmina J; Krjutškov, Kaarel K; Langford, Cordelia C; Leander, Karin K; Lindholm, Eero E; Lobbens, Stéphane S; Männistö, Satu S; Mirza, Ghazala G; Mühleisen, Thomas W TW; Musk, Bill B; Parkin, Melissa M; Rallidis, Loukianos L; Saramies, Jouko J; Sennblad, Bengt B; Shah, Sonia S; Sigurðsson, Gunnar G; Silveira, Angela A; Steinbach, Gerald G; Thorand, Barbara B; Trakalo, Joseph J; Veglia, Fabrizio F; Wennauer, Roman R; Winckler, Wendy W; Zabaneh, Delilah D; Campbell, Harry H; van Duijn, Cornelia C; Uitterlinden, Andre G AG; Hofman, Albert A; Sijbrands, Eric E; Abecasis, Goncalo R GR; Owen, Katharine R KR; Zeggini, Eleftheria E; Trip, Mieke D MD; Forouhi, Nita G NG; Syvänen, Ann-Christine AC; Eriksson, Johan G JG; Peltonen, Leena L; Nöthen, Markus M MM; Balkau, Beverley B; Palmer, Colin N A CN; Lyssenko, Valeriya V; Tuomi, Tiinamaija T; Isomaa, Bo B; Hunter, David J DJ; Qi, Lu L; , ; , ; , ; , ; , ; Shuldiner, Alan R AR; Roden, Michael M; Barroso, Ines I; Wilsgaard, Tom T; Beilby, John J; Hovingh, Kees K; Price, Jackie F JF; Wilson, James F JF; Rauramaa, Rainer R; Lakka, Timo A TA; Lind, Lars L; Dedoussis, George G; Njølstad, Inger I; Pedersen, Nancy L NL; Khaw, Kay-Tee KT; Wareham, Nicholas J NJ; Keinanen-Kiukaanniemi, Sirkka M SM; Saaristo, Timo E TE; Korpi-Hyövälti, Eeva E; Saltevo, Juha J; Laakso, Markku M; Kuusisto, Johanna J; Metspalu, Andres A; Collins, Francis S FS; Mohlke, Karen L KL; Bergman, Richard N RN; Tuomilehto, Jaakko J; Boehm, Bernhard O BO; Gieger, Christian C; Hveem, Kristian K; Cauchi, Stephane S; Froguel, Philippe P; Baldassarre, Damiano D; Tremoli, Elena E; Humphries, Steve E SE; Saleheen, Danish D; Danesh, John J; Ingelsson, Erik E; Ripatti, Samuli S; Salomaa, Veikko V; Erbel, Raimund R; Jöckel, Karl-Heinz KH; Moebus, Susanne S; Peters, Annette A; Illig, Thomas T; de Faire, Ulf U; Hamsten, Anders A; Morris, Andrew D AD; Donnelly, Peter J PJ; Frayling, Timothy M TM; Hattersley, Andrew T AT; Boerwinkle, Eric E; Melander, Olle O; Kathiresan, Sekar S; Nilsson, Peter M PM; Deloukas, Panos P; Thorsteinsdottir, Unnur U; Groop, Leif C LC; Stefansson, Kari K; Hu, Frank F; Pankow, James S JS; Dupuis, Josée J; Meigs, James B JB; Altshuler, David D; Boehnke, Michael M; McCarthy, Mark I MI; ,
Publication Date: 2012-09

Variant appearance in text: rs516946
PubMed Link: 22885922
Variant Present in the following documents:
  • Main text
  • NIHMS49214-supplement-2.pdf
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