HNF1A c.1769-24T>C

Variant ID: 12-121438844-T-C

NM_000545.5(HNF1A):c.1769-24T>C

This variant was identified in 37 publications

View GRCh38 version.




Publications:


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: rs735396
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
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: rs735396
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: rs735396
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Genetic and Epigenetic Association of Hepatocyte Nuclear Factor-1α with Glycosylation in Post-Traumatic Stress Disorder.

Genes
Tudor, Lucija L; Konjevod, Marcela M; Nedic Erjavec, Gordana G; Nikolac Perkovic, Matea M; Uzun, Suzana S; Kozumplik, Oliver O; Zoldos, Vlatka V; Lauc, Gordan G; Svob Strac, Dubravka D; Pivac, Nela N
Publication Date: 2022-06-14

Variant appearance in text: rs735396
PubMed Link: 35741825
Variant Present in the following documents:
  • Main text
  • genes-13-01063.pdf
View BVdb publication page



Association of HNF1A gene variants and haplotypes with metabolic syndrome: a case-control study in the Tunisian population and a meta-analysis.

Diabetology & Metabolic Syndrome
Dallali, Hamza H; Hechmi, Meriem M; Morjane, Imane I; Elouej, Sahar S; Jmel, Haifa H; Ben Halima, Yosra Y; Abid, Abdelmajid A; Bahlous, Afef A; Barakat, Abdelhamid A; Jamoussi, Henda H; Abdelhak, Sonia S; Kefi, Rym R
Publication Date: 2022-02-02

Variant appearance in text: rs735396
PubMed Link: 35109885
Variant Present in the following documents:
  • Main text
  • 13098_2022_Article_794.pdf
View BVdb publication page



Association of HNF1A gene variants and haplotypes with metabolic syndrome: a case-control study in the Tunisian population and a meta-analysis.

Diabetology & Metabolic Syndrome
Dallali, Hamza H; Hechmi, Meriem M; Morjane, Imane I; Elouej, Sahar S; Jmel, Haifa H; Ben Halima, Yosra Y; Abid, Abdelmajid A; Bahlous, Afef A; Barakat, Abdelhamid A; Jamoussi, Henda H; Abdelhak, Sonia S; Kefi, Rym R
Publication Date: 2022-02-02

Variant appearance in text: rs735396
PubMed Link: 35109885
Variant Present in the following documents:
  • Main text
  • 13098_2022_Article_794.pdf
View BVdb publication page



Genetic Studies of Metabolic Syndrome in Arab Populations: A Systematic Review and Meta-Analysis.

Frontiers In Genetics
Al-Homedi, Zahrah Z; Afify, Nariman N; Memon, Mashal M; Alsafar, Habiba H; Tay, Guan G; Jelinek, Herbert F HF; Mousa, Mira M; Abu-Samra, Nadia N; Osman, Wael W
Publication Date: 2021

Variant appearance in text: rs735396
PubMed Link: 34868209
Variant Present in the following documents:
  • Table3.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: rs735396
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: rs735396
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: rs735396
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: 1769-24T>C; rs735396
PubMed Link: 32867815
Variant Present in the following documents:
  • 13256_2020_2451_MOESM1_ESM.xlsx, sheet 1
  • 13256_2020_2451_MOESM1_ESM.xlsx, sheet 3
  • 13256_2020_2451_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Metformin inhibits pancreatic cancer metastasis caused by SMAD4 deficiency and consequent HNF4G upregulation.

Protein & Cell
Wang, Chengcheng C; Zhang, Taiping T; Liao, Quan Q; Dai, Menghua M; Guo, Junchao J; Yang, Xinyu X; Tan, Wen W; Lin, Dongxin D; Wu, Chen C; Zhao, Yupei Y
Publication Date: 2021-02

Variant appearance in text: rs735396
PubMed Link: 32737864
Variant Present in the following documents:
  • 13238_2020_760_MOESM1_ESM.pdf
View BVdb publication page



Replication of 15 loci involved in human plasma protein N-glycosylation in 4802 samples from four cohorts.

Glycobiology
Sharapov, Sodbo Zh SZ; Shadrina, Alexandra S AS; Tsepilov, Yakov A YA; Elgaeva, Elizaveta E EE; Tiys, Evgeny S ES; Feoktistova, Sofya G SG; Zaytseva, Olga O OO; Vuckovic, Frano F; Cuadrat, Rafael R; Jäger, Susanne S; Wittenbecher, Clemens C; Karssen, Lennart C LC; Timofeeva, Maria M; Tillin, Therese T; Trbojević-Akmačić, Irena I; Štambuk, Tamara T; Rudman, Najda N; Krištić, Jasminka J; Šimunović, Jelena J; Momčilović, Ana A; Vilaj, Marija M; Jurić, Julija J; Slana, Anita A; Gudelj, Ivan I; Klarić, Thomas T; Puljak, Livia L; Skelin, Andrea A; Kadić, Antonia Jeličić AJ; Van Zundert, Jan J; Chaturvedi, Nishi N; Campbell, Harry H; Dunlop, Malcolm M; Farrington, Susan M SM; Doherty, Margaret M; Dagostino, Concetta C; Gieger, Christian C; Allegri, Massimo M; Williams, Frances F; Schulze, Matthias B MB; Lauc, Gordan G; Aulchenko, Yurii S YS
Publication Date: 2021-02-09

Variant appearance in text: rs735396
PubMed Link: 32521004
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: HNF1A: 1769-24T>C; rs735396
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs735396
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Defining the genetic control of human blood plasma N-glycome using genome-wide association study.

Human Molecular Genetics
Sharapov, Sodbo Zh SZ; Tsepilov, Yakov A YA; Klaric, Lucija L; Mangino, Massimo M; Thareja, Gaurav G; Shadrina, Alexandra S AS; Simurina, Mirna M; Dagostino, Concetta C; Dmitrieva, Julia J; Vilaj, Marija M; Vuckovic, Frano F; Pavic, Tamara T; Stambuk, Jerko J; Trbojevic-Akmacic, Irena I; Kristic, Jasminka J; Simunovic, Jelena J; Momcilovic, Ana A; Campbell, Harry H; Doherty, Margaret M; Dunlop, Malcolm G MG; Farrington, Susan M SM; Pucic-Bakovic, Maja M; Gieger, Christian C; Allegri, Massimo M; Louis, Edouard E; Georges, Michel M; Suhre, Karsten K; Spector, Tim T; Williams, Frances M K FMK; Lauc, Gordan G; Aulchenko, Yurii S YS
Publication Date: 2019-06-15

Variant appearance in text: rs735396
PubMed Link: 31163085
Variant Present in the following documents:
  • Main text
View BVdb publication page



Subset-Based Analysis Using Gene-Environment Interactions for Discovery of Genetic Associations across Multiple Studies or Phenotypes.

Human Heredity
Yu, Youfei Y; Xia, Lu L; Lee, Seunggeun S; Zhou, Xiang X; Stringham, Heather M HM; Boehnke, Michael M; Mukherjee, Bhramar B
Publication Date: 2018

Variant appearance in text: rs735396
PubMed Link: 31132756
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Determinants of Dyslipidemia in African-Based Populations: A Systematic Review.

Omics : A Journal Of Integrative Biology
Noubiap, Jean Jacques JJ; Mato, Edith Pascale M EPM; Guewo-Fokeng, Magellan M; Kaze, Arnaud D AD; Boulenouar, Houssam H; Wonkam, Ambroise A
Publication Date: 2018-12

Variant appearance in text: rs735396
PubMed Link: 30571611
Variant Present in the following documents:
  • Main text
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: 1769-24T>C; rs735396
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
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: rs735396
PubMed Link: 29066969
Variant Present in the following documents:
  • Main text
  • fphar-08-00712.pdf
  • Table_1.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: rs735396
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Association study of C-reactive protein associated gene HNF1A with ischemic stroke in Chinese population.

Bmc Medical Genetics
Shi, Haibin H; Leng, Song S; Liang, Hui H; Zheng, Yan Y; Chen, Lidian L
Publication Date: 2016-07-26

Variant appearance in text: rs735396
PubMed Link: 27460564
Variant Present in the following documents:
  • Main text
  • 12881_2016_Article_313.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: rs735396
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; a case-control study.

Bmc Research Notes
Potjer, Thomas P TP; van der Stoep, Nienke N; Houwing-Duistermaat, Jeanine J JJ; Konings, Ingrid C A W IC; Aalfs, Cora M CM; van den Akker, Peter C PC; Ausems, Margreet G MG; Dommering, Charlotte J CJ; van der Kolk, Lizet E LE; Maiburg, Merel C MC; Spruijt, Liesbeth L; Wagner, Anja A; Vasen, Hans F A HF; Hes, Frederik J FJ
Publication Date: 2015-06-26

Variant appearance in text: rs735396
PubMed Link: 26111702
Variant Present in the following documents:
  • Main text
View BVdb publication page



Testing for genetic associations in arbitrarily structured populations.

Nature Genetics
Song, Minsun M; Hao, Wei W; Storey, John D JD
Publication Date: 2015-05

Variant appearance in text: rs735396
PubMed Link: 25822090
Variant Present in the following documents:
  • NIHMS664591-supplement-1.pdf
View BVdb publication page



MGAS: a powerful tool for multivariate gene-based genome-wide association analysis.

Bioinformatics (Oxford, England)
Van der Sluis, Sophie S; Dolan, Conor V CV; Li, Jiang J; Song, Youqiang Y; Sham, Pak P; Posthuma, Danielle D; Li, Miao-Xin MX
Publication Date: 2015-04-01

Variant appearance in text: rs735396
PubMed Link: 25431328
Variant Present in the following documents:
  • Main text
  • btu783.pdf
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: rs735396
PubMed Link: 24763700
Variant Present in the following documents:
  • Main text
  • pone.0095866.pdf
View BVdb publication page



Efficient multivariate linear mixed model algorithms for genome-wide association studies.

Nature Methods
Zhou, Xiang X; Stephens, Matthew M
Publication Date: 2014-04

Variant appearance in text: rs735396
PubMed Link: 24531419
Variant Present in the following documents:
  • NIHMS560150-supplement-1.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: rs735396
PubMed Link: 23050023
Variant Present in the following documents:
  • Main text
View BVdb publication page



A mixed-model approach for genome-wide association studies of correlated traits in structured populations.

Nature Genetics
Korte, Arthur A; Vilhjálmsson, Bjarni J BJ; Segura, Vincent V; Platt, Alexander A; Long, Quan Q; Nordborg, Magnus M
Publication Date: 2012-09

Variant appearance in text: rs735396
PubMed Link: 22902788
Variant Present in the following documents:
  • NIHMS392993-supplement-1.pdf
View BVdb publication page



Pathway analysis of genome-wide association study data highlights pancreatic development genes as susceptibility factors for pancreatic cancer.

Carcinogenesis
Li, Donghui D; Duell, Eric J EJ; Yu, Kai K; Risch, Harvey A HA; Olson, Sara H SH; Kooperberg, Charles C; Wolpin, Brian M BM; Jiao, Li L; Dong, Xiaoqun X; Wheeler, Bill B; Arslan, Alan A AA; Bueno-de-Mesquita, H Bas HB; Fuchs, Charles S CS; Gallinger, Steven S; Gross, Myron M; Hartge, Patricia P; Hoover, Robert N RN; Holly, Elizabeth A EA; Jacobs, Eric J EJ; Klein, Alison P AP; LaCroix, Andrea A; Mandelson, Margaret T MT; Petersen, Gloria G; Zheng, Wei W; Agalliu, Ilir I; Albanes, Demetrius D; Boutron-Ruault, Marie-Christine MC; Bracci, Paige M PM; Buring, Julie E JE; Canzian, Federico F; Chang, Kenneth K; Chanock, Stephen J SJ; Cotterchio, Michelle M; Gaziano, J Michael JM; Giovannucci, Edward L EL; Goggins, Michael M; Hallmans, Göran G; Hankinson, Susan E SE; Hoffman Bolton, Judith A JA; Hunter, David J DJ; Hutchinson, Amy A; Jacobs, Kevin B KB; Jenab, Mazda M; Khaw, Kay-Tee KT; Kraft, Peter P; Krogh, Vittorio V; Kurtz, Robert C RC; McWilliams, Robert R RR; Mendelsohn, Julie B JB; Patel, Alpa V AV; Rabe, Kari G KG; Riboli, Elio E; Shu, Xiao-Ou XO; Tjønneland, Anne A; Tobias, Geoffrey S GS; Trichopoulos, Dimitrios D; Virtamo, Jarmo J; Visvanathan, Kala K; Watters, Joanne J; Yu, Herbert H; Zeleniuch-Jacquotte, Anne A; Amundadottir, Laufey L; Stolzenberg-Solomon, Rachael Z RZ
Publication Date: 2012-07

Variant appearance in text: rs735396
PubMed Link: 22523087
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathway-Targeted Pharmacogenomics of CYP1A2 in Human Liver.

Frontiers In Pharmacology
Klein, Kathrin K; Winter, Stefan S; Turpeinen, Miia M; Schwab, Matthias M; Zanger, Ulrich M UM
Publication Date: 2010

Variant appearance in text: rs735396
PubMed Link: 21918647
Variant Present in the following documents:
  • Main text
  • fphar-01-00129.pdf
View BVdb publication page



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: rs735396
PubMed Link: 21498636
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1α as a master regulator of plasma protein fucosylation.

Plos Genetics
Lauc, Gordan G; Essafi, Abdelkader A; Huffman, Jennifer E JE; Hayward, Caroline C; Knežević, Ana A; Kattla, Jayesh J JJ; Polašek, Ozren O; Gornik, Olga O; Vitart, Veronique V; Abrahams, Jodie L JL; Pučić, Maja M; Novokmet, Mislav M; Redžić, Irma I; Campbell, Susan S; Wild, Sarah H SH; Borovečki, Fran F; Wang, Wei W; Kolčić, Ivana I; Zgaga, Lina L; Gyllensten, Ulf U; Wilson, James F JF; Wright, Alan F AF; Hastie, Nicholas D ND; Campbell, Harry H; Rudd, Pauline M PM; Rudan, Igor I
Publication Date: 2010-12-23

Variant appearance in text: rs735396
PubMed Link: 21203500
Variant Present in the following documents:
  • Main text
  • pgen.1001256.pdf
View BVdb publication page



Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes.

Plos One
Jafar-Mohammadi, Bahram B; Groves, Christopher J CJ; Owen, Katharine R KR; Frayling, Timothy M TM; Hattersley, Andrew T AT; McCarthy, Mark I MI; Gloyn, Anna L AL
Publication Date: 2009-08-12

Variant appearance in text: rs735396
PubMed Link: 19672314
Variant Present in the following documents:
  • Main text
  • pone.0006615.pdf
View BVdb publication page



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: rs735396
PubMed Link: 18439552
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.

American Journal Of Human Genetics
Ridker, Paul M PM; Pare, Guillaume G; Parker, Alex A; Zee, Robert Y L RY; Danik, Jacqueline S JS; Buring, Julie E JE; Kwiatkowski, David D; Cook, Nancy R NR; Miletich, Joseph P JP; Chasman, Daniel I DI
Publication Date: 2008-05

Variant appearance in text: rs735396
PubMed Link: 18439548
Variant Present in the following documents:
  • Main text
View BVdb publication page