SPTA1 c.6601-222G>A

Variant ID: 1-158585415-C-T

NM_003126.2(SPTA1):c.6601-222G>A

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control.

Diabetologia
Tremblay, Johanne J; Haloui, Mounsif M; Attaoua, Redha R; Tahir, Ramzan R; Hishmih, Camil C; Harvey, François F; Marois-Blanchet, François-Christophe FC; Long, Carole C; Simon, Paul P; Santucci, Lara L; Hizel, Candan C; Chalmers, John J; Marre, Michel M; Harrap, Stephen S; Cífková, Renata R; Krajčoviechová, Alena A; Matthews, David R DR; Williams, Bryan B; Poulter, Neil N; Zoungas, Sophia S; Colagiuri, Stephen S; Mancia, Giuseppe G; Grobbee, Diederick E DE; Rodgers, Anthony A; Liu, Liusheng L; Agbessi, Mawussé M; Bruat, Vanessa V; Favé, Marie-Julie MJ; Harwood, Michelle P MP; Awadalla, Philip P; Woodward, Mark M; Hussin, Julie G JG; Hamet, Pavel P
Publication Date: 2021-09

Variant appearance in text: rs2779116
PubMed Link: 34226943
Variant Present in the following documents:
  • 125_2021_5491_MOESM1_ESM.pdf
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Mendelian Randomization Analysis Support Causal Associations of HbA1c with Circulating Triglyceride, Total and Low-density Lipoprotein Cholesterol in a Chinese Population.

Scientific Reports
Jia, Xu X; Hou, Yanan Y; Xu, Min M; Zhao, Zhiyun Z; Xuan, Liping L; Wang, Tiange T; Li, Mian M; Xu, Yu Y; Lu, Jieli J; Bi, Yufang Y; Wang, Weiqing W; Chen, Yuhong Y
Publication Date: 2019-04-02

Variant appearance in text: rs2779116
PubMed Link: 30940890
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_41076.pdf
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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: SPTA1: 6601-222G>A; rs2779116
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
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Genome-Wide Association Study of Serum Fructosamine and Glycated Albumin in Adults Without Diagnosed Diabetes: Results From the Atherosclerosis Risk in Communities Study.

Diabetes
Loomis, Stephanie J SJ; Li, Man M; Maruthur, Nisa M NM; Baldridge, Abigail S AS; North, Kari E KE; Mei, Hao H; Morrison, Alanna A; Carson, April P AP; Pankow, James S JS; Boerwinkle, Eric E; Scharpf, Robert R; Rasmussen-Torvik, Laura J LJ; Coresh, Josef J; Duggal, Priya P; Köttgen, Anna A; Selvin, Elizabeth E
Publication Date: 2018-08

Variant appearance in text: rs2779116
PubMed Link: 29844224
Variant Present in the following documents:
  • Main text
  • db171362.pdf
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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: rs2779116
PubMed Link: 29483669
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs2779116
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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Genetic aetiology of glycaemic traits: approaches and insights.

Human Molecular Genetics
Wheeler, Eleanor E; Marenne, Gaëlle G; Barroso, Inês I
Publication Date: 2017-10-01

Variant appearance in text: rs2779116
PubMed Link: 28977447
Variant Present in the following documents:
  • Main text
  • ddx293.pdf
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Genome-wide association study of 1,5-anhydroglucitol identifies novel genetic loci linked to glucose metabolism.

Scientific Reports
Li, Man M; Maruthur, Nisa M NM; Loomis, Stephanie J SJ; Pietzner, Maik M; North, Kari E KE; Mei, Hao H; Morrison, Alanna C AC; Friedrich, Nele N; Pankow, James S JS; Nauck, Matthias M; Boerwinkle, Eric E; Teumer, Alexander A; Selvin, Elizabeth E; Köttgen, Anna A
Publication Date: 2017-06-06

Variant appearance in text: rs2779116
PubMed Link: 28588231
Variant Present in the following documents:
  • 41598_2017_2287_MOESM1_ESM.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: rs2779116
PubMed Link: 27111120
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recent advances in understanding the genetic architecture of type 2 diabetes.

Human Molecular Genetics
Mohlke, Karen L KL; Boehnke, Michael M
Publication Date: 2015-10-15

Variant appearance in text: rs2779116
PubMed Link: 26160912
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs2779116
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: rs2779116
PubMed Link: 24244560
Variant Present in the following documents:
  • Main text
  • pone.0079767.pdf
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From genotype to human β cell phenotype and beyond.

Islets
Marchetti, Piero P; Syed, Farooq F; Suleiman, Mara M; Bugliani, Marco M; Marselli, Lorella L
Publication Date: 2012

Variant appearance in text: rs2779116
PubMed Link: 23073174
Variant Present in the following documents:
  • Main text
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Race-ethnic differences in the association of genetic loci with HbA1c levels and mortality in U.S. adults: the third National Health and Nutrition Examination Survey (NHANES III).

Bmc Medical Genetics
Grimsby, Jonna L JL; Porneala, Bianca C BC; Vassy, Jason L JL; Yang, Quanhe Q; Florez, José C JC; Dupuis, Josée J; Liu, Tiebin T; Yesupriya, Ajay A; Chang, Man-Huei MH; Ned, Renee M RM; Dowling, Nicole F NF; Khoury, Muin J MJ; Meigs, James B JB; ,
Publication Date: 2012-04-27

Variant appearance in text: rs2779116
PubMed Link: 22540250
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: rs2779116
PubMed Link: 21975967
Variant Present in the following documents:
  • Main text
  • 11892_2011_Article_232.pdf
View BVdb publication page



Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.

Diabetes
Soranzo, Nicole N; Sanna, Serena S; Wheeler, Eleanor E; Gieger, Christian C; Radke, Dörte D; Dupuis, Josée J; Bouatia-Naji, Nabila N; Langenberg, Claudia C; Prokopenko, Inga I; Stolerman, Elliot E; Sandhu, Manjinder S MS; Heeney, Matthew M MM; Devaney, Joseph M JM; Reilly, Muredach P MP; Ricketts, Sally L SL; Stewart, Alexandre F R AF; Voight, Benjamin F BF; Willenborg, Christina C; Wright, Benjamin B; Altshuler, David D; Arking, Dan D; Balkau, Beverley B; Barnes, Daniel D; Boerwinkle, Eric E; Böhm, Bernhard B; Bonnefond, Amélie A; Bonnycastle, Lori L LL; Boomsma, Dorret I DI; Bornstein, Stefan R SR; Böttcher, Yvonne Y; Bumpstead, Suzannah S; Burnett-Miller, Mary Susan MS; Campbell, Harry H; Cao, Antonio A; Chambers, John J; Clark, Robert R; Collins, Francis S FS; Coresh, Josef J; de Geus, Eco J C EJ; Dei, Mariano M; Deloukas, Panos P; Döring, Angela A; Egan, Josephine M JM; Elosua, Roberto R; Ferrucci, Luigi L; Forouhi, Nita N; Fox, Caroline S CS; Franklin, Christopher C; Franzosi, Maria Grazia MG; Gallina, Sophie S; Goel, Anuj A; Graessler, Jürgen J; Grallert, Harald H; Greinacher, Andreas A; Hadley, David D; Hall, Alistair A; Hamsten, Anders A; Hayward, Caroline C; Heath, Simon S; Herder, Christian C; Homuth, Georg G; Hottenga, Jouke-Jan JJ; Hunter-Merrill, Rachel R; Illig, Thomas T; Jackson, Anne U AU; Jula, Antti A; Kleber, Marcus M; Knouff, Christopher W CW; Kong, Augustine A; Kooner, Jaspal J; Köttgen, Anna A; Kovacs, Peter P; Krohn, Knut K; Kühnel, Brigitte B; Kuusisto, Johanna J; Laakso, Markku M; Lathrop, Mark M; Lecoeur, Cécile C; Li, Man M; Li, Mingyao M; Loos, Ruth J F RJ; Luan, Jian'an J; Lyssenko, Valeriya V; Mägi, Reedik R; Magnusson, Patrik K E PK; Mälarstig, Anders A; Mangino, Massimo M; Martínez-Larrad, María Teresa MT; März, Winfried W; McArdle, Wendy L WL; McPherson, Ruth R; Meisinger, Christa C; Meitinger, Thomas T; Melander, Olle O; Mohlke, Karen L KL; Mooser, Vincent E VE; Morken, Mario A MA; Narisu, Narisu N; Nathan, David M DM; Nauck, Matthias M; O'Donnell, Chris C; Oexle, Konrad K; Olla, Nazario N; Pankow, James S JS; Payne, Felicity F; Peden, John F JF; Pedersen, Nancy L NL; Peltonen, Leena L; Perola, Markus M; Polasek, Ozren O; Porcu, Eleonora E; Rader, Daniel J DJ; Rathmann, Wolfgang W; Ripatti, Samuli S; Rocheleau, Ghislain G; Roden, Michael M; Rudan, Igor I; Salomaa, Veikko V; Saxena, Richa R; Schlessinger, David D; Schunkert, Heribert H; Schwarz, Peter P; Seedorf, Udo U; Selvin, Elizabeth E; Serrano-Ríos, Manuel M; Shrader, Peter P; Silveira, Angela A; Siscovick, David D; Song, Kjioung K; Spector, Timothy D TD; Stefansson, Kari K; Steinthorsdottir, Valgerdur V; Strachan, David P DP; Strawbridge, Rona R; Stumvoll, Michael M; Surakka, Ida I; Swift, Amy J AJ; Tanaka, Toshiko T; Teumer, Alexander A; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Tönjes, Anke A; Usala, Gianluca G; Vitart, Veronique V; Völzke, Henry H; Wallaschofski, Henri H; Waterworth, Dawn M DM; Watkins, Hugh H; Wichmann, H-Erich HE; Wild, Sarah H SH; Willemsen, Gonneke G; Williams, Gordon H GH; Wilson, James F JF; Winkelmann, Juliane J; Wright, Alan F AF; , ; Zabena, Carina C; Zhao, Jing Hua JH; Epstein, Stephen E SE; Erdmann, Jeanette J; Hakonarson, Hakon H HH; Kathiresan, Sekar S; Khaw, Kay-Tee KT; Roberts, Robert R; Samani, Nilesh J NJ; Fleming, Mark D MD; Sladek, Robert R; Abecasis, Gonçalo G; Boehnke, Michael M; Froguel, Philippe P; Groop, Leif L; McCarthy, Mark I MI; Kao, W H Linda WH; Florez, Jose C JC; Uda, Manuela M; Wareham, Nicholas J NJ; Barroso, Inês I; Meigs, James B JB
Publication Date: 2010-12

Variant appearance in text: rs2779116
PubMed Link: 20858683
Variant Present in the following documents:
  • Main text
  • supp_db10-0502_db100502nlineappendix.pdf
  • zdb3229.pdf
View BVdb publication page