HNF1A c.1501+119G>T

Variant ID: 12-121435587-G-T

NM_000545.5(HNF1A):c.1501+119G>T

This variant was identified in 68 publications

View GRCh38 version.




Publications:


Comparison of Genetic Susceptibility to Coronary Heart Disease in the Hungarian Populations: Risk Prediction Models for Coronary Heart Disease.

Genes
Nasr, Nayla N; Soltész, Beáta B; Sándor, János J; Ádány, Róza R; Fiatal, Szilvia S
Publication Date: 2023-04-30

Variant appearance in text: rs2259816
PubMed Link: 37239393
Variant Present in the following documents:
  • Main text
  • genes-14-01033.pdf
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs2259816
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
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: rs2259816
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs2259816
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs2259816
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Fruit and Vegetable Consumption Interacts With HNF1A Variants on the C-Reactive Protein.

Frontiers In Nutrition
Shin, Dayeon D; Lee, Kyung Won KW
Publication Date: 2022

Variant appearance in text: rs2259816
PubMed Link: 35873425
Variant Present in the following documents:
  • Main text
  • fnut-09-900867.pdf
View BVdb publication page



Enrichment analyses identify shared associations for 25 quantitative traits in over 600,000 individuals from seven diverse ancestries.

American Journal Of Human Genetics
Smith, Samuel Pattillo SP; Shahamatdar, Sahar S; Cheng, Wei W; Zhang, Selena S; Paik, Joseph J; Graff, Misa M; Haiman, Christopher C; Matise, T C TC; North, Kari E KE; Peters, Ulrike U; Kenny, Eimear E; Gignoux, Chris C; Wojcik, Genevieve G; Crawford, Lorin L; Ramachandran, Sohini S
Publication Date: 2022-05-05

Variant appearance in text: rs2259816
PubMed Link: 35349783
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page



Genetics of macrovascular complications in type 2 diabetes.

World Journal Of Diabetes
Tonyan, Ziravard N ZN; Nasykhova, Yulia A YA; Danilova, Maria M MM; Glotov, Andrey S AS
Publication Date: 2021-08-15

Variant appearance in text: rs2259816
PubMed Link: 34512887
Variant Present in the following documents:
  • Main text
  • WJD-12-1200.pdf
View BVdb publication page



Strategies to Improve the Clinical Outcomes for Direct-to-Consumer Pharmacogenomic Tests.

Genes
Tafazoli, Alireza A; Guggilla, Rama Krishna RK; Kamel-Koleti, Zahra Z; Miltyk, Wojciech W
Publication Date: 2021-03-03

Variant appearance in text: rs2259816
PubMed Link: 33802585
Variant Present in the following documents:
  • Main text
  • genes-12-00361.pdf
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: rs2259816
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genome-wide association study of high-sensitivity C-reactive protein, D-dimer, and interleukin-6 levels in multiethnic HIV+ cohorts.

Aids (London, England)
Sherman, Brad T BT; Hu, Xiaojun X; Singh, Kanal K; Haine, Lillian L; Rupert, Adam W AW; Neaton, James D JD; Lundgren, Jens D JD; Imamichi, Tomozumi T; Chang, Weizhong W; Lane, H Clifford HC; ,
Publication Date: 2021-02-02

Variant appearance in text: rs2259816
PubMed Link: 33095540
Variant Present in the following documents:
  • aids-35-193-s001.xlsx, sheet 2
View BVdb publication page



Genome-wide Association Analysis of Proinflammatory Cytokines and Gene-lifestyle Interaction for Invasive Breast Cancer Risk: The WHI dbGaP Study.

Cancer Prevention Research (Philadelphia, Pa.)
Jung, Su Yon SY; Scott, Peter A PA; Papp, Jeanette C JC; Sobel, Eric M EM; Pellegrini, Matteo M; Yu, Herbert H; Han, Sihao S; Zhang, Zuo-Feng ZF
Publication Date: 2021-01

Variant appearance in text: rs2259816
PubMed Link: 32928877
Variant Present in the following documents:
  • Main text
View BVdb publication page



A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

Journal Of Medical Case Reports
García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C
Publication Date: 2020-08-31

Variant appearance in text: HNF1A: 1501+119G>T; rs2259816
PubMed Link: 32867815
Variant Present in the following documents:
  • 13256_2020_2451_MOESM1_ESM.xlsx, sheet 2
  • 13256_2020_2451_MOESM1_ESM.xlsx, sheet 1
  • 13256_2020_2451_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Association of the PSRC1 rs599839 Variant with Coronary Artery Disease in a Mexican Population.

Medicina (Kaunas, Lithuania)
Rodríguez-Arellano, Martha Eunice ME; Solares-Tlapechco, Jacqueline J; Costa-Urrutia, Paula P; Cárdenas-Hernández, Helios H; Vallejo-Gómez, Marajael M; Granados, Julio J; Salas-Padilla, Sergio S
Publication Date: 2020-08-26

Variant appearance in text: rs2259816
PubMed Link: 32858814
Variant Present in the following documents:
  • Main text
  • medicina-56-00427.pdf
View BVdb publication page



Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine
Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z
Publication Date: 2020-05

Variant appearance in text: HNF1A: 1501+119G>T
PubMed Link: 32277576
Variant Present in the following documents:
  • JCMM-24-4931-s010.xlsx, sheet 1
View BVdb publication page



Identification of novel functional CpG-SNPs associated with type 2 diabetes and coronary artery disease.

Molecular Genetics And Genomics : Mgg
Wang, Zun Z; Qiu, Chuan C; Lin, Xu X; Zhao, Lan-Juan LJ; Liu, Yong Y; Wu, Xinrui X; Wang, Qian Q; Liu, Wei W; Li, Kelvin K; Deng, Hong-Wen HW; Tang, Si-Yuan SY; Shen, Hui H
Publication Date: 2020-05

Variant appearance in text: rs2259816
PubMed Link: 32162118
Variant Present in the following documents:
  • Main text
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: HNF1A: 1501+119G>T
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Genetic Study of Hepatocyte Nuclear Factor 1 Alpha Variants in Development of Early-Onset Diabetes Type 2 and Maturity-Onset Diabetes of the Young 3 in Iran.

Advanced Biomedical Research
Mohammadi, Aliasgar A; Eskandari, Ameneh A; Sarmadi, Akram A; Rahimi, Mehrali M; Iraj, Bijan B; Hashemipour, Mahin M; Chaleshtori, Morteza Hashmezadeh MH; Tabatabaiefar, Mohammad Amin MA
Publication Date: 2019

Variant appearance in text: rs2259816
PubMed Link: 31673528
Variant Present in the following documents:
  • ABR-8-55.pdf
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: rs2259816
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Genome-wide association study of medication-use and associated disease in the UK Biobank.

Nature Communications
Wu, Yeda Y; Byrne, Enda M EM; Zheng, Zhili Z; Kemper, Kathryn E KE; Yengo, Loic L; Mallett, Andrew J AJ; Yang, Jian J; Visscher, Peter M PM; Wray, Naomi R NR
Publication Date: 2019-04-23

Variant appearance in text: rs2259816
PubMed Link: 31015401
Variant Present in the following documents:
  • 41467_2019_9572_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Common Polymorphisms Linked to Obesity and Cardiovascular Disease in Europeans and Asians are Associated with Type 2 Diabetes in Mexican Mestizos.

Medicina (Kaunas, Lithuania)
Jiménez-Osorio, Angélica Saraí AS; Musalem-Younes, Claudette C; Cárdenas-Hernández, Helios H; Solares-Tlapechco, Jacqueline J; Costa-Urrutia, Paula P; Medina-Contreras, Oscar O; Granados, Julio J; López-Saucedo, Catalina C; Estrada-Garcia, Teresa T; Rodríguez-Arellano, Martha Eunice ME
Publication Date: 2019-02-05

Variant appearance in text: rs2259816
PubMed Link: 30764545
Variant Present in the following documents:
  • Main text
  • medicina-55-00040.pdf
View BVdb publication page



Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: rs2259816
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
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: HNF1A: 1501+119G>T; rs2259816
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Bmc Medical Genetics
Jia, Shuqin S; Zhang, Meng M; Sun, Yu Y; Yan, Hai H; Zhao, Fangping F; Li, Ziyu Z; Ji, Jiafu J
Publication Date: 2018-06-22

Variant appearance in text: HNF1A: 1501+119G>T; rs2259816
PubMed Link: 29929473
Variant Present in the following documents:
  • 12881_2018_605_MOESM2_ESM.xlsx, sheet 2
  • 12881_2018_605_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Discovery, fine-mapping, and conditional analyses of genetic variants associated with C-reactive protein in multiethnic populations using the Metabochip in the Population Architecture using Genomics and Epidemiology (PAGE) study.

Human Molecular Genetics
Kocarnik, Jonathan M JM; Richard, Melissa M; Graff, Misa M; Haessler, Jeffrey J; Bien, Stephanie S; Carlson, Chris C; Carty, Cara L CL; Reiner, Alexander P AP; Avery, Christy L CL; Ballantyne, Christie M CM; LaCroix, Andrea Z AZ; Assimes, Themistocles L TL; Barbalic, Maja M; Pankratz, Nathan N; Tang, Weihong W; Tao, Ran R; Chen, Dongquan D; Talavera, Gregory A GA; Daviglus, Martha L ML; Chirinos-Medina, Diana A DA; Pereira, Rocio R; Nishimura, Katie K; Bužková, Petra P; Best, Lyle G LG; Ambite, José Luis JL; Cheng, Iona I; Crawford, Dana C DC; Hindorff, Lucia A LA; Fornage, Myriam M; Heiss, Gerardo G; North, Kari E KE; Haiman, Christopher A CA; Peters, Ulrike U; Le Marchand, Loic L; Kooperberg, Charles C
Publication Date: 2018-08-15

Variant appearance in text: rs2259816
PubMed Link: 29878111
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polygenic Risk Score for Coronary Heart Disease Modifies the Elevated Risk by Cigarette Smoking for Disease Incidence.

Circulation. Genomic And Precision Medicine
Hindy, George G; Wiberg, Frans F; Almgren, Peter P; Melander, Olle O; Orho-Melander, Marju M
Publication Date: 2018-01

Variant appearance in text: rs2259816
PubMed Link: 29874179
Variant Present in the following documents:
  • hcg-11-e001856-s001.pdf
View BVdb publication page



Precision medicine in diabetes prevention, classification and management.

Journal Of Diabetes Investigation
Xie, Fangying F; Chan, Juliana Cn JC; Ma, Ronald Cw RC
Publication Date: 2018-09

Variant appearance in text: rs2259816
PubMed Link: 29499103
Variant Present in the following documents:
  • Main text
View BVdb publication page



Type 2 Diabetes Mellitus and Cardiovascular Disease: Genetic and Epigenetic Links.

Frontiers In Endocrinology
De Rosa, Salvatore S; Arcidiacono, Biagio B; Chiefari, Eusebio E; Brunetti, Antonio A; Indolfi, Ciro C; Foti, Daniela P DP
Publication Date: 2018

Variant appearance in text: rs2259816
PubMed Link: 29387042
Variant Present in the following documents:
  • Main text
  • fendo-09-00002.pdf
View BVdb publication page



Improved Progression-Free Survival in Irinotecan-Treated Metastatic Colorectal Cancer Patients Carrying the HNF1A Coding Variant p.I27L.

Frontiers In Pharmacology
Labriet, Adrien A; De Mattia, Elena E; Cecchin, Erika E; Lévesque, Éric É; Jonker, Derek D; Couture, Félix F; Buonadonna, Angela A; D'Andrea, Mario M; Villeneuve, Lyne L; Toffoli, Giuseppe G; Guillemette, Chantal C
Publication Date: 2017

Variant appearance in text: rs2259816
PubMed Link: 29066969
Variant Present in the following documents:
  • Table_1.pdf
View BVdb publication page



Genetic variants of increased waist circumference in psychosis.

Psychiatric Genetics
Hukic, Dzana S DS; Ösby, Urban U; Olsson, Eric E; Hilding, Agneta A; Östenson, Claes-Göran CG; Gu, Harvest F HF; Ehrenborg, Ewa E; Edman, Gunnar G; Schalling, Martin M; Lavebratt, Catharina C; Frisén, Louise L
Publication Date: 2017-12

Variant appearance in text: rs2259816
PubMed Link: 28737528
Variant Present in the following documents:
  • ypg-27-210.pdf
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: rs2259816
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



A genetic risk score for CAD, psychological stress, and their interaction as predictors of CAD, fatal MI, non-fatal MI and cardiovascular death.

Plos One
Svensson, Thomas T; Kitlinski, Mariusz M; Engström, Gunnar G; Melander, Olle O
Publication Date: 2017

Variant appearance in text: rs2259816
PubMed Link: 28426714
Variant Present in the following documents:
  • Main text
View BVdb publication page



Local Ancestry and Clinical Cardiovascular Events Among African Americans From the Atherosclerosis Risk in Communities Study.

Journal Of The American Heart Association
Shendre, Aditi A; Irvin, Marguerite R MR; Wiener, Howard H; Zhi, Degui D; Limdi, Nita A NA; Overton, Edgar T ET; Shrestha, Sadeep S
Publication Date: 2017-04-10

Variant appearance in text: rs2259816
PubMed Link: 28396569
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of the HNF1A polymorphisms and serum lipid traits, the risk of coronary artery disease and ischemic stroke.

The Journal Of Gene Medicine
Zhou, Yi-Jiang YJ; Yin, Rui-Xing RX; Hong, Shao-Cai SC; Yang, Qian Q; Cao, Xiao-Li XL; Chen, Wu-Xian WX
Publication Date: 2017-01

Variant appearance in text: rs2259816
PubMed Link: 28035729
Variant Present in the following documents:
  • Main text
  • JGM-19-na.pdf
View BVdb publication page



Lifestyle Cardiovascular Risk Score, Genetic Risk Score, and Myocardial Infarction in Hispanic/Latino Adults Living in Costa Rica.

Journal Of The American Heart Association
Sotos-Prieto, Mercedes M; Baylin, Ana A; Campos, Hannia H; Qi, Lu L; Mattei, Josiemer J
Publication Date: 2016-12-20

Variant appearance in text: rs2259816
PubMed Link: 27998913
Variant Present in the following documents:
  • Main text
View BVdb publication page



Implications of Personal Genomic Testing for Health Behaviors: The Case of Smoking.

Nicotine & Tobacco Research : Official Journal Of The Society For Research On Nicotine And Tobacco
Olfson, Emily E; Hartz, Sarah S; Carere, Deanna Alexis DA; Green, Robert C RC; Roberts, J Scott JS; Bierut, Laura J LJ; ,
Publication Date: 2016-12

Variant appearance in text: rs2259816
PubMed Link: 27613923
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of cardiovascular and renal complications in diabetes.

Journal Of Diabetes Investigation
Ma, Ronald C W RC
Publication Date: 2016-03

Variant appearance in text: rs2259816
PubMed Link: 27042264
Variant Present in the following documents:
  • Main text
  • JDI-7-139.pdf
View BVdb publication page



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: rs2259816
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
View BVdb publication page



New insights from monogenic diabetes for "common" type 2 diabetes.

Frontiers In Genetics
Tallapragada, Divya Sri Priyanka DS; Bhaskar, Seema S; Chandak, Giriraj R GR
Publication Date: 2015

Variant appearance in text: rs2259816
PubMed Link: 26300908
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hepatocyte nuclear factor 1A (HNF1A) as a possible tumor suppressor in pancreatic cancer.

Plos One
Luo, Zhaofan Z; Li, Yanan Y; Wang, Huamin H; Fleming, Jason J; Li, Min M; Kang, Yaan Y; Zhang, Ran R; Li, Donghui D
Publication Date: 2015

Variant appearance in text: rs2259816
PubMed Link: 25793983
Variant Present in the following documents:
  • pone.0121082.pdf
View BVdb publication page



Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials.

Lancet (London, England)
Mega, J L JL; Stitziel, N O NO; Smith, J G JG; Chasman, D I DI; Caulfield, M M; Devlin, J J JJ; Nordio, F F; Hyde, C C; Cannon, C P CP; Sacks, F F; Poulter, N N; Sever, P P; Ridker, P M PM; Braunwald, E E; Melander, O O; Kathiresan, S S; Sabatine, M S MS
Publication Date: 2015-06-06

Variant appearance in text: rs2259816
PubMed Link: 25748612
Variant Present in the following documents:
  • Main text
View BVdb publication page



Basic concepts and potential applications of genetics and genomics for cardiovascular and stroke clinicians: a scientific statement from the American Heart Association.

Circulation. Cardiovascular Genetics
Musunuru, Kiran K; Hickey, Kathleen T KT; Al-Khatib, Sana M SM; Delles, Christian C; Fornage, Myriam M; Fox, Caroline S CS; Frazier, Lorraine L; Gelb, Bruce D BD; Herrington, David M DM; Lanfear, David E DE; Rosand, Jonathan J; ,
Publication Date: 2015-02

Variant appearance in text: rs2259816
PubMed Link: 25561044
Variant Present in the following documents:
  • Main text
View BVdb publication page



A new susceptibility locus for myocardial infarction, hypertension, type 2 diabetes mellitus, and dyslipidemia on chromosome 12q24.

Disease Markers
Wakil, Salma M SM; Muiya, Nzioka P NP; Tahir, Asma I AI; Al-Najai, Mohammed M; Baz, Batoul B; Andres, Editha E; Mazhar, Nejat N; Al Tassan, Nada N; Alshahid, Maie M; Meyer, Brian F BF; Dzimiri, Nduna N
Publication Date: 2014

Variant appearance in text: rs2259816
PubMed Link: 25057215
Variant Present in the following documents:
  • Main text
View BVdb publication page



New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis.

Plos One
Vinayagamoorthy, Nadimuthu N; Hu, Hae-Jin HJ; Yim, Seon-Hee SH; Jung, Seung-Hyun SH; Jo, Jaeseong J; Jee, Sun Ha SH; Chung, Yeun-Jun YJ
Publication Date: 2014

Variant appearance in text: rs2259816
PubMed Link: 24763700
Variant Present in the following documents:
  • Main text
  • pone.0095866.pdf
View BVdb publication page



Association of genetic variants influencing lipid levels with coronary artery disease in Japanese individuals.

Plos One
Takeuchi, Fumihiko F; Isono, Masato M; Katsuya, Tomohiro T; Yokota, Mitsuhiro M; Yamamoto, Ken K; Nabika, Toru T; Shimokawa, Kazuro K; Nakashima, Eitaro E; Sugiyama, Takao T; Rakugi, Hiromi H; Yamaguchi, Shuhei S; Ogihara, Toshio T; Yamori, Yukio Y; Kato, Norihiro N
Publication Date: 2012

Variant appearance in text: rs2259816
PubMed Link: 23050023
Variant Present in the following documents:
  • Main text
  • pone.0046385.pdf
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Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.

American Journal Of Human Genetics
Reiner, Alex P AP; Beleza, Sandra S; Franceschini, Nora N; Auer, Paul L PL; Robinson, Jennifer G JG; Kooperberg, Charles C; Peters, Ulrike U; Tang, Hua H
Publication Date: 2012-09-07

Variant appearance in text: rs2259816
PubMed Link: 22939635
Variant Present in the following documents:
  • Main text
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Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischaemic stroke.

European Journal Of Neurology
Heckman, M G MG; Soto-Ortolaza, A I AI; Diehl, N N NN; Rayaprolu, S S; Brott, T G TG; Wszolek, Z K ZK; Meschia, J F JF; Ross, O A OA
Publication Date: 2013-02

Variant appearance in text: rs2259816
PubMed Link: 22882272
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  • Main text
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Genetic markers enhance coronary risk prediction in men: the MORGAM prospective cohorts.

Plos One
Hughes, Maria F MF; Saarela, Olli O; Stritzke, Jan J; Kee, Frank F; Silander, Kaisa K; Klopp, Norman N; Kontto, Jukka J; Karvanen, Juha J; Willenborg, Christina C; Salomaa, Veikko V; Virtamo, Jarmo J; Amouyel, Phillippe P; Arveiler, Dominique D; Ferrières, Jean J; Wiklund, Per-Gunner PG; Baumert, Jens J; Thorand, Barbara B; Diemert, Patrick P; Trégouët, David-Alexandre DA; Hengstenberg, Christian C; Peters, Annette A; Evans, Alun A; Koenig, Wolfgang W; Erdmann, Jeanette J; Samani, Nilesh J NJ; Kuulasmaa, Kari K; Schunkert, Heribert H
Publication Date: 2012

Variant appearance in text: rs2259816
PubMed Link: 22848412
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A genetic risk score based on direct associations with coronary heart disease improves coronary heart disease risk prediction in the Atherosclerosis Risk in Communities (ARIC), but not in the Rotterdam and Framingham Offspring, Studies.

Atherosclerosis
Brautbar, Ariel A; Pompeii, Lisa A LA; Dehghan, Abbas A; Ngwa, Julius S JS; Nambi, Vijay V; Virani, Salim S SS; Rivadeneira, Fernando F; Uitterlinden, André G AG; Hofman, Albert A; Witteman, Jacqueline C M JC; Pencina, Michael J MJ; Folsom, Aaron R AR; Cupples, L Adrienne LA; Ballantyne, Christie M CM; Boerwinkle, Eric E
Publication Date: 2012-08

Variant appearance in text: rs2259816
PubMed Link: 22789513
Variant Present in the following documents:
  • Main text
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Circulating, imaging, and genetic biomarkers in cardiovascular risk prediction.

Trends In Cardiovascular Medicine
Ge, Yin Y; Wang, Thomas J TJ
Publication Date: 2011-05

Variant appearance in text: rs2259816
PubMed Link: 22681965
Variant Present in the following documents:
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A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.

Plos Genetics
Naitza, Silvia S; Porcu, Eleonora E; Steri, Maristella M; Taub, Dennis D DD; Mulas, Antonella A; Xiao, Xiang X; Strait, James J; Dei, Mariano M; Lai, Sandra S; Busonero, Fabio F; Maschio, Andrea A; Usala, Gianluca G; Zoledziewska, Magdalena M; Sidore, Carlo C; Zara, Ilenia I; Pitzalis, Maristella M; Loi, Alessia A; Virdis, Francesca F; Piras, Roberta R; Deidda, Francesca F; Whalen, Michael B MB; Crisponi, Laura L; Concas, Antonio A; Podda, Carlo C; Uzzau, Sergio S; Scheet, Paul P; Longo, Dan L DL; Lakatta, Edward E; Abecasis, Gonçalo R GR; Cao, Antonio A; Schlessinger, David D; Uda, Manuela M; Sanna, Serena S; Cucca, Francesco F
Publication Date: 2012-01

Variant appearance in text: rs2259816
PubMed Link: 22291609
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Genetic susceptibility to coronary heart disease in type 2 diabetes: 3 independent studies.

Journal Of The American College Of Cardiology
Qi, Lu L; Parast, Layla L; Cai, Tianxi T; Powers, Christine C; Gervino, Ernest V EV; Hauser, Thomas H TH; Hu, Frank B FB; Doria, Alessandro A
Publication Date: 2011-12-13

Variant appearance in text: rs2259816
PubMed Link: 22152955
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Implications of discoveries from genome-wide association studies in current cardiovascular practice.

World Journal Of Cardiology
Jeemon, Panniyammakal P; Pettigrew, Kerry K; Sainsbury, Christopher C; Prabhakaran, Dorairaj D; Padmanabhan, Sandosh S
Publication Date: 2011-07-26

Variant appearance in text: rs2259816
PubMed Link: 21860704
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Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits.

Plos Genetics
Paul, Dirk S DS; Nisbet, James P JP; Yang, Tsun-Po TP; Meacham, Stuart S; Rendon, Augusto A; Hautaviita, Katta K; Tallila, Jonna J; White, Jacqui J; Tijssen, Marloes R MR; Sivapalaratnam, Suthesh S; Basart, Hanneke H; Trip, Mieke D MD; , ; , ; Göttgens, Berthold B; Soranzo, Nicole N; Ouwehand, Willem H WH; Deloukas, Panos P
Publication Date: 2011-06

Variant appearance in text: rs2259816
PubMed Link: 21738486
Variant Present in the following documents:
  • pgen.1002139.s016.pdf
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Genome-wide "pleiotropy scan" identifies HNF1A region as a novel pancreatic cancer susceptibility locus.

Cancer Research
Pierce, Brandon L BL; Ahsan, Habibul H
Publication Date: 2011-07-01

Variant appearance in text: rs2259816
PubMed Link: 21498636
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Genome-wide association studies in atherosclerosis.

Current Atherosclerosis Reports
Sivapalaratnam, S S; Motazacker, M M MM; Maiwald, S S; Hovingh, G K GK; Kastelein, J J P JJ; Levi, M M; Trip, M D MD; Dallinga-Thie, G M GM
Publication Date: 2011-06

Variant appearance in text: rs2259816
PubMed Link: 21369780
Variant Present in the following documents:
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The 1p13.3 LDL (C)-associated locus shows large effect sizes in young populations.

Pediatric Research
Devaney, Joseph M JM; Thompson, Paul D PD; Visich, Paul S PS; Saltarelli, William A WA; Gordon, Paul M PM; Orkunoglu-Suer, E Funda EF; Gordish-Dressman, Heather H; Harmon, Brennan T BT; Bradbury, Margaret K MK; Panchapakesan, Karuna K; Khianey, Rahul R; Hubal, Monica J MJ; Clarkson, Priscilla M PM; Pescatello, Linda S LS; Zoeller, Robert F RF; Moyna, Niall M NM; Angelopoulos, Theodore J TJ; Kraus, William E WE; Hoffman, Eric P EP
Publication Date: 2011-06

Variant appearance in text: rs2259816
PubMed Link: 21297524
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Genetic risk score and risk of myocardial infarction in Hispanics.

Circulation
Qi, Lu L; Ma, Jiantao J; Qi, Qibin Q; Hartiala, Jaana J; Allayee, Hooman H; Campos, Hannia H
Publication Date: 2011-02-01

Variant appearance in text: rs2259816
PubMed Link: 21242481
Variant Present in the following documents:
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Effect of the rs2259816 polymorphism in the HNF1A gene on circulating levels of c-reactive protein and coronary artery disease (the ludwigshafen risk and cardiovascular health study).

Bmc Medical Genetics
Kleber, Marcus E ME; Grammer, Tanja B TB; Renner, Wilfried W; März, Winfried W
Publication Date: 2010-11-09

Variant appearance in text: rs2259816
PubMed Link: 21062467
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Genetic causes of myocardial infarction: new insights from genome-wide association studies.

Deutsches Arzteblatt International
Erdmann, Jeanette J; Linsel-Nitschke, Patrick P; Schunkert, Heribert H
Publication Date: 2010-10

Variant appearance in text: rs2259816
PubMed Link: 21031128
Variant Present in the following documents:
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A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.

Lancet (London, England)
Ripatti, Samuli S; Tikkanen, Emmi E; Orho-Melander, Marju M; Havulinna, Aki S AS; Silander, Kaisa K; Sharma, Amitabh A; Guiducci, Candace C; Perola, Markus M; Jula, Antti A; Sinisalo, Juha J; Lokki, Marja-Liisa ML; Nieminen, Markku S MS; Melander, Olle O; Salomaa, Veikko V; Peltonen, Leena L; Kathiresan, Sekar S
Publication Date: 2010-10-23

Variant appearance in text: rs2259816
PubMed Link: 20971364
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
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Genetics of diabetes complications.

Current Diabetes Reports
Doria, Alessandro A
Publication Date: 2010-12

Variant appearance in text: rs2259816
PubMed Link: 20835900
Variant Present in the following documents:
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Improved prediction of cardiovascular disease based on a panel of single nucleotide polymorphisms identified through genome-wide association studies.

Circulation. Cardiovascular Genetics
Davies, Robert W RW; Dandona, Sonny S; Stewart, Alexandre F R AF; Chen, Li L; Ellis, Stephan G SG; Tang, W H Wilson WH; Hazen, Stanley L SL; Roberts, Robert R; McPherson, Ruth R; Wells, George A GA
Publication Date: 2010-10

Variant appearance in text: rs2259816
PubMed Link: 20729558
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PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease.

Hepatology (Baltimore, Md.)
Speliotes, Elizabeth K EK; Butler, Johannah L JL; Palmer, Cameron D CD; Voight, Benjamin F BF; , ; , ; , ; Hirschhorn, Joel N JN
Publication Date: 2010-09

Variant appearance in text: rs2259816
PubMed Link: 20648472
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Genetics of coronary artery disease: focus on genome-wide association studies.

American Journal Of Translational Research
Baudhuin, Linnea M LM
Publication Date: 2009-03-05

Variant appearance in text: rs2259816
PubMed Link: 19956433
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New susceptibility locus for coronary artery disease on chromosome 3q22.3.

Nature Genetics
Erdmann, Jeanette J; Grosshennig, Anika A; Braund, Peter S PS; König, Inke R IR; Hengstenberg, Christian C; Hall, Alistair S AS; Linsel-Nitschke, Patrick P; Kathiresan, Sekar S; Wright, Ben B; Trégouët, David-Alexandre DA; Cambien, Francois F; Bruse, Petra P; Aherrahrou, Zouhair Z; Wagner, Arnika K AK; Stark, Klaus K; Schwartz, Stephen M SM; Salomaa, Veikko V; Elosua, Roberto R; Melander, Olle O; Voight, Benjamin F BF; O'Donnell, Christopher J CJ; Peltonen, Leena L; Siscovick, David S DS; Altshuler, David D; Merlini, Piera Angelica PA; Peyvandi, Flora F; Bernardinelli, Luisa L; Ardissino, Diego D; Schillert, Arne A; Blankenberg, Stefan S; Zeller, Tanja T; Wild, Philipp P; Schwarz, Daniel F DF; Tiret, Laurence L; Perret, Claire C; Schreiber, Stefan S; El Mokhtari, Nour Eddine NE; Schäfer, Arne A; März, Winfried W; Renner, Wilfried W; Bugert, Peter P; Klüter, Harald H; Schrezenmeir, Jürgen J; Rubin, Diana D; Ball, Stephen G SG; Balmforth, Anthony J AJ; Wichmann, H-Erich HE; Meitinger, Thomas T; Fischer, Marcus M; Meisinger, Christa C; Baumert, Jens J; Peters, Annette A; Ouwehand, Willem H WH; , ; , ; , ; , ; Deloukas, Panos P; Thompson, John R JR; Ziegler, Andreas A; Samani, Nilesh J NJ; Schunkert, Heribert H
Publication Date: 2009-03

Variant appearance in text: rs2259816
PubMed Link: 19198612
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Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.

American Journal Of Human Genetics
Reiner, Alexander P AP; Barber, Mathew J MJ; Guan, Yongtao Y; Ridker, Paul M PM; Lange, Leslie A LA; Chasman, Daniel I DI; Walston, Jeremy D JD; Cooper, Gregory M GM; Jenny, Nancy S NS; Rieder, Mark J MJ; Durda, J Peter JP; Smith, Joshua D JD; Novembre, John J; Tracy, Russell P RP; Rotter, Jerome I JI; Stephens, Matthew M; Nickerson, Deborah A DA; Krauss, Ronald M RM
Publication Date: 2008-05

Variant appearance in text: rs2259816
PubMed Link: 18439552
Variant Present in the following documents:
  • Main text
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