GCK c.45+4787C>T

Variant ID: 7-44223721-G-A

NM_000162.3(GCK):c.45+4787C>T

This variant was identified in 22 publications

View GRCh38 version.




Publications:


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: rs730497
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Young-onset diabetes in Asian Indians is associated with lower measured and genetically determined beta cell function.

Diabetologia
Siddiqui, Moneeza K MK; Anjana, Ranjit Mohan RM; Dawed, Adem Y AY; Martoeau, Cyrielle C; Srinivasan, Sundararajan S; Saravanan, Jebarani J; Madanagopal, Sathish K SK; Taylor, Alasdair A; Bell, Samira S; Veluchamy, Abirami A; Pradeepa, Rajendra R; Sattar, Naveed N; Venkatesan, Radha R; Palmer, Colin N A CNA; Pearson, Ewan R ER; Mohan, Viswanathan V
Publication Date: 2022-06

Variant appearance in text: rs730497
PubMed Link: 35247066
Variant Present in the following documents:
  • 125_2022_5671_MOESM1_ESM.pdf
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Genetic Signatures of Glucose Homeostasis: Synergistic Interplay With Long-Term Exposure to Cigarette Smoking in Development of Primary Colorectal Cancer Among African American Women.

Clinical And Translational Gastroenterology
Jung, Su Yon SY
Publication Date: 2021-10-05

Variant appearance in text: rs730497
PubMed Link: 34608882
Variant Present in the following documents:
  • Main text
  • ct9-12-e00412.pdf
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Mitochondrial pathways in human health and aging.

Mitochondrion
Bornstein, Rebecca R; Gonzalez, Brenda B; Johnson, Simon C SC
Publication Date: 2020-09

Variant appearance in text: rs730497
PubMed Link: 32738358
Variant Present in the following documents:
  • Main text
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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: rs730497
PubMed Link: 29483669
Variant Present in the following documents:
  • Main text
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Genome-wide meta-analysis in Japanese populations identifies novel variants at the TMC6-TMC8 and SIX3-SIX2 loci associated with HbA1c.

Scientific Reports
Hachiya, Tsuyoshi T; Komaki, Shohei S; Hasegawa, Yutaka Y; Ohmomo, Hideki H; Tanno, Kozo K; Hozawa, Atsushi A; Tamiya, Gen G; Yamamoto, Masayuki M; Ogasawara, Kuniaki K; Nakamura, Motoyuki M; Hitomi, Jiro J; Ishigaki, Yasushi Y; Sasaki, Makoto M; Shimizu, Atsushi A
Publication Date: 2017-11-23

Variant appearance in text: rs730497
PubMed Link: 29170429
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_16493.pdf
  • 41598_2017_16493_MOESM1_ESM.pdf
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Transethnic insight into the genetics of glycaemic traits: fine-mapping results from the Population Architecture using Genomics and Epidemiology (PAGE) consortium.

Diabetologia
Bien, Stephanie A SA; Pankow, James S JS; Haessler, Jeffrey J; Lu, Yinchang Y; Pankratz, Nathan N; Rohde, Rebecca R RR; Tamuno, Alfred A; Carlson, Christopher S CS; Schumacher, Fredrick R FR; Bůžková, Petra P; Daviglus, Martha L ML; Lim, Unhee U; Fornage, Myriam M; Fernandez-Rhodes, Lindsay L; Avilés-Santa, Larissa L; Buyske, Steven S; Gross, Myron D MD; Graff, Mariaelisa M; Isasi, Carmen R CR; Kuller, Lewis H LH; Manson, JoAnn E JE; Matise, Tara C TC; Prentice, Ross L RL; Wilkens, Lynne R LR; Yoneyama, Sachiko S; Loos, Ruth J F RJF; Hindorff, Lucia A LA; Le Marchand, Loic L; North, Kari E KE; Haiman, Christopher A CA; Peters, Ulrike U; Kooperberg, Charles C
Publication Date: 2017-12

Variant appearance in text: rs730497
PubMed Link: 28905132
Variant Present in the following documents:
  • Main text
  • 125_2017_Article_4405.pdf
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Adiposity amplifies the genetic risk of fatty liver disease conferred by multiple loci.

Nature Genetics
Stender, Stefan S; Kozlitina, Julia J; Nordestgaard, Børge G BG; Tybjærg-Hansen, Anne A; Hobbs, Helen H HH; Cohen, Jonathan C JC
Publication Date: 2017-06

Variant appearance in text: rs730497
PubMed Link: 28436986
Variant Present in the following documents:
  • NIHMS864885-supplement-1.pdf
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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: rs730497
PubMed Link: 27111120
Variant Present in the following documents:
  • Main text
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Papillary renal cell carcinoma: a clinicopathological and whole-genome exon sequencing study.

International Journal Of Clinical And Experimental Pathology
Liu, Kunpeng K; Ren, Yuan Y; Pang, Lijuan L; Qi, Yan Y; Jia, Wei W; Tao, Lin L; Hu, Zhengyan Z; Zhao, Jin J; Zhang, Haijun H; Li, Li L; Yue, Haifeng H; Han, Juan J; Liang, Weihua W; Hu, Jianming J; Zou, Hong H; Yuan, Xianglin X; Li, Feng F
Publication Date: 2015

Variant appearance in text: rs730497
PubMed Link: 26339402
Variant Present in the following documents:
  • Main text
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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: rs730497
PubMed Link: 26300908
Variant Present in the following documents:
  • Main text
  • fgene-06-00251.pdf
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Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.

Diabetes
Hwang, Joo-Yeon JY; Sim, Xueling X; Wu, Ying Y; Liang, Jun J; Tabara, Yasuharu Y; Hu, Cheng C; Hara, Kazuo K; Tam, Claudia H T CH; Cai, Qiuyin Q; Zhao, Qi Q; Jee, Sunha S; Takeuchi, Fumihiko F; Go, Min Jin MJ; Ong, Rick Twee Hee RT; Ohkubo, Takayoshi T; Kim, Young Jin YJ; Zhang, Rong R; Yamauchi, Toshimasa T; So, Wing Yee WY; Long, Jirong J; Gu, Dongfeng D; Lee, Nanette R NR; Kim, Soriul S; Katsuya, Tomohiro T; Oh, Ji Hee JH; Liu, Jianjun J; Umemura, Satoshi S; Kim, Yeon-Jung YJ; Jiang, Feng F; Maeda, Shiro S; Chan, Juliana C N JC; Lu, Wei W; Hixson, James E JE; Adair, Linda S LS; Jung, Keum Ji KJ; Nabika, Toru T; Bae, Jae-Bum JB; Lee, Mi Hee MH; Seielstad, Mark M; Young, Terri L TL; Teo, Yik Ying YY; Kita, Yoshikuni Y; Takashima, Naoyuki N; Osawa, Haruhiko H; Lee, So-Hyun SH; Shin, Min-Ho MH; Shin, Dong Hoon DH; Choi, Bo Youl BY; Shi, Jiajun J; Gao, Yu-Tang YT; Xiang, Yong-Bing YB; Zheng, Wei W; Kato, Norihiro N; Yoon, Miwuk M; He, Jiang J; Shu, Xiao Ou XO; Ma, Ronald C W RC; Kadowaki, Takashi T; Jia, Weiping W; Miki, Tetsuro T; Qi, Lu L; Tai, E Shyong ES; Mohlke, Karen L KL; Han, Bok-Ghee BG; Cho, Yoon Shin YS; Kim, Bong-Jo BJ
Publication Date: 2015-01

Variant appearance in text: rs730497
PubMed Link: 25187374
Variant Present in the following documents:
  • Main text
  • 291.pdf
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Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.

Diabetes
Chen, Peng P; Takeuchi, Fumihiko F; Lee, Jong-Young JY; Li, Huaixing H; Wu, Jer-Yuarn JY; Liang, Jun J; Long, Jirong J; Tabara, Yasuharu Y; Goodarzi, Mark O MO; Pereira, Mark A MA; Kim, Young Jin YJ; Go, Min Jin MJ; Stram, Daniel O DO; Vithana, Eranga E; Khor, Chiea-Chuen CC; Liu, Jianjun J; Liao, Jiemin J; Ye, Xingwang X; Wang, Yiqin Y; Lu, Ling L; Young, Terri L TL; Lee, Jeannette J; Thai, Ah Chuan AC; Cheng, Ching-Yu CY; van Dam, Rob M RM; Friedlander, Yechiel Y; Heng, Chew-Kiat CK; Koh, Woon-Puay WP; Chen, Chien-Hsiun CH; Chang, Li-Ching LC; Pan, Wen-Harn WH; Qi, Qibin Q; Isono, Masato M; Zheng, Wei W; Cai, Qiuyin Q; Gao, Yutang Y; Yamamoto, Ken K; Ohnaka, Keizo K; Takayanagi, Ryoichi R; Kita, Yoshikuni Y; Ueshima, Hirotsugu H; Hsiung, Chao A CA; Cui, Jinrui J; Sheu, Wayne H-H WH; Rotter, Jerome I JI; Chen, Yii-Der I YD; Hsu, Chris C; Okada, Yukinori Y; Kubo, Michiaki M; Takahashi, Atsushi A; Tanaka, Toshihiro T; van Rooij, Frank J A FJ; Ganesh, Santhi K SK; Huang, Jinyan J; Huang, Tao T; Yuan, Jianmin J; Hwang, Joo-Yeon JY; , ; Gross, Myron D MD; Assimes, Themistocles L TL; Miki, Tetsuro T; Shu, Xiao-Ou XO; Qi, Lu L; Chen, Yuan-Tson YT; Lin, Xu X; Aung, Tin T; Wong, Tien-Yin TY; Teo, Yik-Ying YY; Kim, Bong-Jo BJ; Kato, Norihiro N; Tai, E-Shyong ES
Publication Date: 2014-07

Variant appearance in text: rs730497
PubMed Link: 24647736
Variant Present in the following documents:
  • Main text
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Genome-wide association study identifies common loci influencing circulating glycated hemoglobin (HbA1c) levels in non-diabetic subjects: the Long Life Family Study (LLFS).

Metabolism: Clinical And Experimental
An, Ping P; Miljkovic, Iva I; Thyagarajan, Bharat B; Kraja, Aldi T AT; Daw, E Warwick EW; Pankow, James S JS; Selvin, Elizabeth E; Kao, W H Linda WH; Maruthur, Nisa M NM; Nalls, Micahel A MA; Liu, Yongmei Y; Harris, Tamara B TB; Lee, Joseph H JH; Borecki, Ingrid B IB; Christensen, Kaare K; Eckfeldt, John H JH; Mayeux, Richard R; Perls, Thomas T TT; Newman, Anne B AB; Province, Michael A MA
Publication Date: 2014-04

Variant appearance in text: rs730497
PubMed Link: 24405752
Variant Present in the following documents:
  • Main text
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A study assessing the association of glycated hemoglobin A1C (HbA1C) associated variants with HbA1C, chronic kidney disease and diabetic retinopathy in populations of Asian ancestry.

Plos One
Chen, Peng P; Ong, Rick Twee-Hee RT; Tay, Wan-Ting WT; Sim, Xueling X; Ali, Mohammad M; Xu, Haiyan H; Suo, Chen C; Liu, Jianjun J; Chia, Kee-Seng KS; Vithana, Eranga E; Young, Terri L TL; Aung, Tin T; Lim, Wei-Yen WY; Khor, Chiea-Chuen CC; Cheng, Ching-Yu CY; Wong, Tien-Yin TY; Teo, Yik-Ying YY; Tai, E-Shyong ES
Publication Date: 2013

Variant appearance in text: rs730497
PubMed Link: 24244560
Variant Present in the following documents:
  • Main text
  • pone.0079767.pdf
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Large scale meta-analyses of fasting plasma glucose raising variants in GCK, GCKR, MTNR1B and G6PC2 and their impacts on type 2 diabetes mellitus risk.

Plos One
Wang, Haoran H; Liu, Lei L; Zhao, Jinzhao J; Cui, Guanglin G; Chen, Chen C; Ding, Hu H; Wang, Dao Wen DW
Publication Date: 2013

Variant appearance in text: rs730497
PubMed Link: 23840762
Variant Present in the following documents:
  • Main text
  • pone.0067665.pdf
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Genetic contribution and associated pathophysiology in end-stage renal disease.

The Application Of Clinical Genetics
Agrawal, Suraksha S; Agarwal, Ss S; Naik, Sita S
Publication Date: 2010

Variant appearance in text: rs730497
PubMed Link: 23776353
Variant Present in the following documents:
  • Main text
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Single nucleotide polymorphisms in JAZF1 and BCL11A gene are nominally associated with type 2 diabetes in African-American families from the GENNID study.

Journal Of Human Genetics
Langberg, Kurt A KA; Ma, Lijun L; Sharma, Neeraj K NK; Hanis, Craig L CL; Elbein, Steven C SC; Hasstedt, Sandra J SJ; Das, Swapan K SK; ,
Publication Date: 2012-01

Variant appearance in text: rs730497
PubMed Link: 22113416
Variant Present in the following documents:
  • Main text
  • nihms335765.pdf
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Association of new loci identified in European genome-wide association studies with susceptibility to type 2 diabetes in the Japanese.

Plos One
Ohshige, Toshihiko T; Iwata, Minoru M; Omori, Shintaro S; Tanaka, Yasushi Y; Hirose, Hiroshi H; Kaku, Kohei K; Maegawa, Hiroshi H; Watada, Hirotaka H; Kashiwagi, Atsunori A; Kawamori, Ryuzo R; Tobe, Kazuyuki K; Kadowaki, Takashi T; Nakamura, Yusuke Y; Maeda, Shiro S
Publication Date: 2011

Variant appearance in text: rs730497
PubMed Link: 22046406
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic determinants of variability in glycated hemoglobin (HbA(1c)) in humans: review of recent progress and prospects for use in diabetes care.

Current Diabetes Reports
Soranzo, Nicole N
Publication Date: 2011-12

Variant appearance in text: rs730497
PubMed Link: 21975967
Variant Present in the following documents:
  • Main text
View BVdb publication page



Chromosome 7p linkage and association study for diabetes related traits and type 2 diabetes in an African-American population enriched for nephropathy.

Bmc Medical Genetics
Leak, Tennille S TS; Langefeld, Carl D CD; Keene, Keith L KL; Gallagher, Carla J CJ; Lu, Lingyi L; Mychaleckyj, Josyf C JC; Rich, Stephen S SS; Freedman, Barry I BI; Bowden, Donald W DW; Sale, Michèle M MM
Publication Date: 2010-02-08

Variant appearance in text: rs730497
PubMed Link: 20144192
Variant Present in the following documents:
  • Main text
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Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.

Plos Genetics
Paré, Guillaume G; Chasman, Daniel I DI; Parker, Alexander N AN; Nathan, David M DM; Miletich, Joseph P JP; Zee, Robert Y RY; Ridker, Paul M PM
Publication Date: 2008-12

Variant appearance in text: rs730497
PubMed Link: 19096518
Variant Present in the following documents:
  • Main text
  • pgen.1000312.pdf
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