KCNQ1 c.1795-10702C>T

Variant ID: 11-2858295-C-T

NM_000218.2(KCNQ1):c.1795-10702C>T

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Generation of Isogenic hiPSCs with Targeted Edits at Multiple Intronic SNPs to Study the Effects of the Type 2 Diabetes Associated KCNQ1 Locus in American Indians.

Cells
Nair, Anup K AK; Traurig, Michael M; Sutherland, Jeff R JR; Muller, Yunhua L YL; Grellinger, Emma D ED; Saporito, Lucas L; Nelson, Robert G RG; Bogardus, Clifton C; Baier, Leslie J LJ
Publication Date: 2022-04-25

Variant appearance in text: rs2299620
PubMed Link: 35563754
Variant Present in the following documents:
  • Main text
  • cells-11-01446.pdf
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Celebrities in the heart, strangers in the pancreatic beta cell: Voltage-gated potassium channels Kv 7.1 and Kv 11.1 bridge long QT syndrome with hyperinsulinaemia as well as type 2 diabetes.

Acta Physiologica (Oxford, England)
Lubberding, Anniek F AF; Juhl, Christian R CR; Skovhøj, Emil Z EZ; Kanters, Jørgen K JK; Mandrup-Poulsen, Thomas T; Torekov, Signe S SS
Publication Date: 2022-03

Variant appearance in text: rs2299620
PubMed Link: 34990074
Variant Present in the following documents:
  • Main text
  • APHA-234-e13781.pdf
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Genetic Risk Score Increased Discriminant Efficiency of Predictive Models for Type 2 Diabetes Mellitus Using Machine Learning: Cohort Study.

Frontiers In Public Health
Wang, Yikang Y; Zhang, Liying L; Niu, Miaomiao M; Li, Ruiying R; Tu, Runqi R; Liu, Xiaotian X; Hou, Jian J; Mao, Zhenxing Z; Wang, Zhenfei Z; Wang, Chongjian C
Publication Date: 2021

Variant appearance in text: rs2299620
PubMed Link: 33681127
Variant Present in the following documents:
  • Main text
  • fpubh-09-606711.pdf
View BVdb publication page



Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics
Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA
Publication Date: 2021-02

Variant appearance in text: KCNQ1: 1795-10702C>T; rs2299620
PubMed Link: 33462484
Variant Present in the following documents:
  • NIHMS1651539-supplement-2.xlsx, sheet 21
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Roles of Epigenetic Modifications in the Differentiation and Function of Pancreatic β-Cells.

Frontiers In Cell And Developmental Biology
Xu, Fei F; Liu, Jing J; Na, Lixin L; Chen, Linjun L
Publication Date: 2020

Variant appearance in text: rs2299620
PubMed Link: 32984307
Variant Present in the following documents:
  • Main text
  • fcell-08-00748.pdf
View BVdb publication page



Birthweight and early-onset type 2 diabetes in American Indians: differential effects in adolescents and young adults and additive effects of genotype, BMI and maternal diabetes.

Diabetologia
Olaiya, Muideen T MT; Wedekind, Lauren E LE; Hanson, Robert L RL; Sinha, Madhumita M; Kobes, Sayuko S; Nelson, Robert G RG; Baier, Leslie J LJ; Knowler, William C WC
Publication Date: 2019-09

Variant appearance in text: rs2299620
PubMed Link: 31111170
Variant Present in the following documents:
  • Main text
View BVdb publication page



Trans-ethnic fine-mapping of genetic loci for body mass index in the diverse ancestral populations of the Population Architecture using Genomics and Epidemiology (PAGE) Study reveals evidence for multiple signals at established loci.

Human Genetics
Fernández-Rhodes, Lindsay L; Gong, Jian J; Haessler, Jeffrey J; Franceschini, Nora N; Graff, Mariaelisa M; Nishimura, Katherine K KK; Wang, Yujie Y; Highland, Heather M HM; Yoneyama, Sachiko S; Bush, William S WS; Goodloe, Robert R; Ritchie, Marylyn D MD; Crawford, Dana D; Gross, Myron M; Fornage, Myriam M; Buzkova, Petra P; Tao, Ran R; Isasi, Carmen C; Avilés-Santa, Larissa L; Daviglus, Martha M; Mackey, Rachel H RH; Houston, Denise D; Gu, C Charles CC; Ehret, Georg G; Nguyen, Khanh-Dung H KH; Lewis, Cora E CE; Leppert, Mark M; Irvin, Marguerite R MR; Lim, Unhee U; Haiman, Christopher A CA; Le Marchand, Loic L; Schumacher, Fredrick F; Wilkens, Lynne L; Lu, Yingchang Y; Bottinger, Erwin P EP; Loos, Ruth J L RJL; Sheu, Wayne H-H WH; Guo, Xiuqing X; Lee, Wen-Jane WJ; Hai, Yang Y; Hung, Yi-Jen YJ; Absher, Devin D; Wu, I-Chien IC; Taylor, Kent D KD; Lee, I-Te IT; Liu, Yeheng Y; Wang, Tzung-Dau TD; Quertermous, Thomas T; Juang, Jyh-Ming J JJ; Rotter, Jerome I JI; Assimes, Themistocles T; Hsiung, Chao A CA; Chen, Yii-Der Ida YI; Prentice, Ross R; Kuller, Lewis H LH; Manson, JoAnn E JE; Kooperberg, Charles C; Smokowski, Paul P; Robinson, Whitney R WR; Gordon-Larsen, Penny P; Li, Rongling R; Hindorff, Lucia L; Buyske, Steven S; Matise, Tara C TC; Peters, Ulrike U; North, Kari E KE
Publication Date: 2017-06

Variant appearance in text: rs2299620
PubMed Link: 28391526
Variant Present in the following documents:
  • Main text
View BVdb publication page



THE DIABETES EPIDEMIC IN CHINA: AN INTEGRATED REVIEW OF NATIONAL SURVEYS.

Endocrine Practice : Official Journal Of The American College Of Endocrinology And The American Association Of Clinical Endocrinologists
Shen, Xiuhua X; Vaidya, Anand A; Wu, Shoulin S; Gao, Xiang X
Publication Date: 2016-09

Variant appearance in text: rs2299620
PubMed Link: 27295015
Variant Present in the following documents:
  • Main text
View BVdb publication page



Complex Genetics of Type 2 Diabetes and Effect Size: What have We Learned from Isolated Populations?

The Review Of Diabetic Studies : Rds
Nair, Anup K AK; Baier, Leslie J LJ
Publication Date: 2015

Variant appearance in text: rs2299620
PubMed Link: 27111117
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of Type 2 Diabetes: It Matters From Which Parent We Inherit the Risk.

The Review Of Diabetic Studies : Rds
Lyssenko, Valeriya V; Groop, Leif L; Prasad, Rashmi B RB
Publication Date: 2015

Variant appearance in text: rs2299620
PubMed Link: 27111116
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dissecting diabetes/metabolic disease mechanisms using pluripotent stem cells and genome editing tools.

Molecular Metabolism
Teo, Adrian Kee Keong AK; Gupta, Manoj K MK; Doria, Alessandro A; Kulkarni, Rohit N RN
Publication Date: 2015-09

Variant appearance in text: rs2299620
PubMed Link: 26413465
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Variants associated with type 2 diabetes identified by the transethnic meta-analysis study: assessment in American Indians and evidence for a new signal in LPP.

Diabetologia
Nair, Anup K AK; Muller, Yunhua Li YL; McLean, Nellie A NA; Abdussamad, Maryam M; Piaggi, Paolo P; Kobes, Sayuko S; Weil, E Jennifer EJ; Curtis, Jeffrey M JM; Nelson, Robert G RG; Knowler, William C WC; Hanson, Robert L RL; Baier, Leslie J LJ
Publication Date: 2014-11

Variant appearance in text: rs2299620
PubMed Link: 25112377
Variant Present in the following documents:
  • Main text
  • 125_2014_Article_3351.pdf
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Strong parent-of-origin effects in the association of KCNQ1 variants with type 2 diabetes in American Indians.

Diabetes
Hanson, Robert L RL; Guo, Tingwei T; Muller, Yunhua L YL; Fleming, Jamie J; Knowler, William C WC; Kobes, Sayuko S; Bogardus, Clifton C; Baier, Leslie J LJ
Publication Date: 2013-08

Variant appearance in text: rs2299620
PubMed Link: 23630301
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.

Diabetes
Li, Huaixing H; Gan, Wei W; Lu, Ling L; Dong, Xiao X; Han, Xueyao X; Hu, Cheng C; Yang, Zhen Z; Sun, Liang L; Bao, Wei W; Li, Pengtao P; He, Meian M; Sun, Liangdan L; Wang, Yiqin Y; Zhu, Jingwen J; Ning, Qianqian Q; Tang, Yong Y; Zhang, Rong R; Wen, Jie J; Wang, Di D; Zhu, Xilin X; Guo, Kunquan K; Zuo, Xianbo X; Guo, Xiaohui X; Yang, Handong H; Zhou, Xianghai X; , ; , ; Zhang, Xuejun X; Qi, Lu L; Loos, Ruth J F RJ; Hu, Frank B FB; Wu, Tangchun T; Liu, Ying Y; Liu, Liegang L; Yang, Ze Z; Hu, Renming R; Jia, Weiping W; Ji, Linong L; Li, Yixue Y; Lin, Xu X
Publication Date: 2013-01

Variant appearance in text: rs2299620
PubMed Link: 22961080
Variant Present in the following documents:
  • 291.pdf
View BVdb publication page



A single nucleotide polymorphism in KCNQ1 is associated with susceptibility to diabetic nephropathy in japanese subjects with type 2 diabetes.

Diabetes Care
Ohshige, Toshihiko T; Tanaka, Yasushi Y; Araki, Shin-ichi S; Babazono, Tetsuya T; Toyoda, Masao M; Umezono, Tomoya T; Watada, Hirotaka H; Suzuki, Daisuke D; Iwamoto, Yasuhiko Y; Kawamori, Ryuzo R; Nakamura, Yusuke Y; Maeda, Shiro S
Publication Date: 2010-04

Variant appearance in text: rs2299620
PubMed Link: 20056949
Variant Present in the following documents:
  • Main text
  • zdc842.pdf
View BVdb publication page