GCKR c.1337T>C ;(p.L446P)

Variant ID: 2-27730940-T-C

NM_001486.3(GCKR):c.1337T>C;(p.L446P)

This variant was identified in 687 publications

View GRCh38 version.




Publications:


Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.

Nature Genetics
Schlosser, Pascal P; Scherer, Nora N; Grundner-Culemann, Franziska F; Monteiro-Martins, Sara S; Haug, Stefan S; Steinbrenner, Inga I; Uluvar, Burulça B; Wuttke, Matthias M; Cheng, Yurong Y; Ekici, Arif B AB; Gyimesi, Gergely G; Karoly, Edward D ED; Kotsis, Fruzsina F; Mielke, Johanna J; Gomez, Maria F MF; Yu, Bing B; Grams, Morgan E ME; Coresh, Josef J; Boerwinkle, Eric E; Köttgen, Michael M; Kronenberg, Florian F; Meiselbach, Heike H; Mohney, Robert P RP; Akilesh, Shreeram S; , ; Schmidts, Miriam M; Hediger, Matthias A MA; Schultheiss, Ulla T UT; Eckardt, Kai-Uwe KU; Oefner, Peter J PJ; Sekula, Peggy P; Li, Yong Y; Köttgen, Anna A
Publication Date: 2023-06-05

Variant appearance in text: rs1260326
PubMed Link: 37277652
Variant Present in the following documents:
  • 41588_2023_1409_MOESM4_ESM.pdf
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Precision Medicine in Fatty Liver Disease/Non-Alcoholic Fatty Liver Disease.

Journal Of Personalized Medicine
Valenzuela-Vallejo, Laura L; Sanoudou, Despina D; Mantzoros, Christos S CS
Publication Date: 2023-05-14

Variant appearance in text: rs1260326
PubMed Link: 37241000
Variant Present in the following documents:
  • Main text
  • jpm-13-00830.pdf
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Genetic variants in HFE are associated with non-alcoholic fatty liver disease in lean individuals.

Jhep Reports : Innovation In Hepatology
Sun, Zewen Z; Pan, Xingchen X; Tian, Aowen A; Surakka, Ida I; Wang, Tao T; Jiao, Xu X; He, Shanshan S; Song, Jinfang J; Tian, Xin X; Tong, Dan D; Wen, Jianping J; Zhang, Yonggang Y; Liu, Wanqing W; Chen, Peng P
Publication Date: 2023-07

Variant appearance in text: rs1260326
PubMed Link: 37235137
Variant Present in the following documents:
  • mmc4.pdf
  • mmc1.pdf
View BVdb publication page



Organoids: The current status and biomedical applications.

Medcomm
Yang, Siqi S; Hu, Haijie H; Kung, Hengchung H; Zou, Ruiqi R; Dai, Yushi Y; Hu, Yafei Y; Wang, Tiantian T; Lv, Tianrun T; Yu, Jun J; Li, Fuyu F
Publication Date: 2023-06

Variant appearance in text: rs1260326
PubMed Link: 37215622
Variant Present in the following documents:
  • Main text
  • MCO2-4-e274.pdf
View BVdb publication page



The Values and Perspectives of Organoids in the Field of Metabolic Syndrome.

International Journal Of Molecular Sciences
Tan, Chen C; Ding, Min M; Zheng, Yun-Wen YW
Publication Date: 2023-05-01

Variant appearance in text: rs1260326
PubMed Link: 37175830
Variant Present in the following documents:
  • Main text
  • ijms-24-08125.pdf
View BVdb publication page



Cohort profile update: Tehran cardiometabolic genetic study.

European Journal Of Epidemiology
Daneshpour, Maryam S MS; Akbarzadeh, Mahdi M; Lanjanian, Hossein H; Sedaghati-Khayat, Bahar B; Guity, Kamran K; Masjoudi, Sajedeh S; Zahedi, Asiyeh Sadat AS; Moazzam-Jazi, Maryam M; Bonab, Leila Najd Hassan LNH; Shalbafan, Bita B; Asgarian, Sara S; Farhood, Goodarz Koli GK; Javanrooh, Niloofar N; Zarkesh, Maryam M; Riahi, Parisa P; Moghaddas, Mohammad Reza MR; Dehkordi, Parvaneh Arbab PA; Ahmadi, Azar Delbarpour AD; Hosseini, Firoozeh F; Farahani, Sara Jalali SJ; Hadaegh, Farzad F; Mirmiran, Parvin P; Tehrani, Fahimeh Ramezani FR; Ghanbarian, Arash A; Pasand, Mohammad Sadegh Fallah Mahboob MSFM; Amiri, Parisa P; Valizadeh, Majid M; Hosseipanah, Farhad F; Tohidi, Maryam M; Ghasemi, Asghar A; Zadeh-Vakili, Azita A; Piryaei, Mohammad M; Alamdari, Shahram S; Khalili, Davood D; Momenan, Amirabbas A; Barzin, Maryam M; Zeinali, Sirous S; Hedayati, Mehdi M; Azizi, Fereidoun F
Publication Date: 2023-05-12

Variant appearance in text: rs1260326
PubMed Link: 37169991
Variant Present in the following documents:
  • Main text
  • 10654_2023_Article_1008.pdf
View BVdb publication page



Multi-trait genome-wide association analyses leveraging alcohol use disorder findings identify novel loci for smoking behaviors in the Million Veteran Program.

Translational Psychiatry
Cheng, Youshu Y; Dao, Cecilia C; Zhou, Hang H; Li, Boyang B; Kember, Rachel L RL; Toikumo, Sylvanus S; Zhao, Hongyu H; Gelernter, Joel J; Kranzler, Henry R HR; Justice, Amy C AC; Xu, Ke K
Publication Date: 2023-05-05

Variant appearance in text: rs1260326
PubMed Link: 37147289
Variant Present in the following documents:
  • Main text
  • 41398_2023_Article_2409.pdf
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From Non-Alcoholic Fatty Liver to Hepatocellular Carcinoma: A Story of (Mal)Adapted Mitochondria.

Biology
Amorim, Ricardo R; Magalhães, Carina C CC; Borges, Fernanda F; Oliveira, Paulo J PJ; Teixeira, José J
Publication Date: 2023-04-14

Variant appearance in text: rs1260326
PubMed Link: 37106795
Variant Present in the following documents:
  • Main text
  • biology-12-00595.pdf
View BVdb publication page



Association of Circulating Branched-Chain Amino Acids with Cardiovascular Diseases: A Mendelian Randomization Study.

Nutrients
Xu, Huan H; Wang, Xuanyang X; Geng, Guannan G; Xu, Xiaoqing X; Liu, Lin L; Zhang, Yuntao Y; Wang, Ziqi Z; Wang, Lulu L; Li, Ying Y
Publication Date: 2023-03-24

Variant appearance in text: rs1260326
PubMed Link: 37049421
Variant Present in the following documents:
  • Main text
  • nutrients-15-01580.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: GCKR: L446P; rs1260326
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Non-Alcoholic Fatty Liver Disease and Vitamin D in the UK Biobank: A Two-Sample Bidirectional Mendelian Randomisation Study.

Nutrients
Zhang, Zixuan Z; Burrows, Kimberley K; Fuller, Harriett H; Speliotes, Elizabeth K EK; Abeysekera, Kushala W M KWM; Thorne, James L JL; Lewis, Sarah J SJ; Zulyniak, Michael A MA; Moore, J Bernadette JB
Publication Date: 2023-03-16

Variant appearance in text: rs1260326
PubMed Link: 36986172
Variant Present in the following documents:
  • Main text
  • nutrients-15-01442.pdf
View BVdb publication page



A bi-directional Mendelian randomization study of sarcopenia-related traits and type 2 diabetes mellitus.

Frontiers In Endocrinology
Chen, Simin S; Yan, Shikang S; Aiheti, Nuerbiyamu N; Kuribanjiang, Kaidiriyan K; Yao, Xuemei X; Wang, Qian Q; Zhou, Tao T; Yang, Lei L
Publication Date: 2023

Variant appearance in text: rs1260326
PubMed Link: 36967750
Variant Present in the following documents:
  • Main text
  • fendo-14-1109800.pdf
View BVdb publication page



Genomic analysis of lean individuals with NAFLD identifies monogenic disorders in a prospective cohort study.

Jhep Reports : Innovation In Hepatology
Zheng, Melanie M; Huang, Daniel Q DQ; Konkwo, Chigoziri C; Agrawal, Saaket S; Khera, Amit V AV; Loomba, Rohit R; Vilarinho, Sílvia S; Ajmera, Veeral V
Publication Date: 2023-04

Variant appearance in text: rs1260326
PubMed Link: 36937991
Variant Present in the following documents:
  • Main text
  • mmc4.pdf
  • mmc1.pdf
  • main.pdf
View BVdb publication page



LAVAA: a lightweight association viewer across ailments.

Bioinformatics Advances
Fauman, Eric B EB; Keppo, Stella S; Cerioli, Nicola N; Vyas, Rupesh R; Kurki, Mitja M; Daly, Mark M; Reeve, Mary Pat MP
Publication Date: 2023

Variant appearance in text: rs1260326
PubMed Link: 36908397
Variant Present in the following documents:
  • Main text
  • vbad018.pdf
View BVdb publication page



The utility of a type 2 diabetes polygenic score in addition to clinical variables for prediction of type 2 diabetes incidence in birth, youth and adult cohorts in an Indigenous study population.

Diabetologia
Wedekind, Lauren E LE; Mahajan, Anubha A; Hsueh, Wen-Chi WC; Chen, Peng P; Olaiya, Muideen T MT; Kobes, Sayuko S; Sinha, Madhumita M; Baier, Leslie J LJ; Knowler, William C WC; McCarthy, Mark I MI; Hanson, Robert L RL
Publication Date: 2023-03-02

Variant appearance in text: rs1260326
PubMed Link: 36862161
Variant Present in the following documents:
  • 125_2023_5870_MOESM1_ESM.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: GCKR: 1337T>C; Leu446Pro
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Decoding type 2 diabetes mellitus genetic risk variants in Pakistani Pashtun ethnic population using the nascent whole exome sequencing and MassARRAY genotyping: A case-control association study.

Plos One
Jan, Asif A; Zakiullah, ; Ali, Sajid S; Muhammad, Basir B; Arshad, Amina A; Shah, Yasar Y; Bahadur, Haji H; Khan, Hamayun H; Khuda, Fazli F; Akbar, Rani R; Ijaz, Kiran K
Publication Date: 2023

Variant appearance in text: GCKR: 1337T>C; Leu446Pro; rs1260326
PubMed Link: 36730981
Variant Present in the following documents:
  • pone.0281070.s002.xlsx, sheet 1
View BVdb publication page



Genetic variation in TBC1 domain family member 1 gene associates with the risk of lean NAFLD via high-density lipoprotein.

Frontiers In Genetics
Wu, Na N; Zhai, Xiangyu X; Yuan, Fan F; Li, Jie J; Li, Dong D; Wang, Jianying J; Zhang, Lei L; Shi, Yi Y; Ji, Guang G; He, Guang G; Liu, Baocheng B
Publication Date: 2022

Variant appearance in text: rs1260326
PubMed Link: 36712867
Variant Present in the following documents:
  • Main text
  • fgene-13-1026725.pdf
View BVdb publication page



Causal effects of maternal circulating amino acids on offspring birthweight: a Mendelian randomisation study.

Ebiomedicine
Zhao, Jian J; Stewart, Isobel D ID; Baird, Denis D; Mason, Dan D; Wright, John J; Zheng, Jie J; Gaunt, Tom R TR; Evans, David M DM; Freathy, Rachel M RM; Langenberg, Claudia C; Warrington, Nicole M NM; Lawlor, Deborah A DA; Borges, Maria Carolina MC; ,
Publication Date: 2023-01-23

Variant appearance in text: rs1260326
PubMed Link: 36696816
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genetic Polymorphisms and Diversity in Nonalcoholic Fatty Liver Disease (NAFLD): A Mini Review.

Biomedicines
Sulaiman, Siti Aishah SA; Dorairaj, Vicneswarry V; Adrus, Muhammad Nafiz Haidi MNH
Publication Date: 2022-12-30

Variant appearance in text: rs1260326
PubMed Link: 36672614
Variant Present in the following documents:
  • Main text
  • biomedicines-11-00106.pdf
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: GCKR: L446P; rs1260326
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Unique genetic variants of lean nonalcoholic fatty liver disease: a retrospective cohort study.

Bmc Endocrine Disorders
Li, Jie J; Wu, Na N; Yang, Yukun Y; Zhai, Xiangyu X; Yuan, Fan F; Zhang, Fengwei F; Yu, Ning N; Li, Dong D; Wang, Ruirui R; Wang, Jianying J; Zhang, Lei L; Shi, Yi Y; He, Guang G; Liu, Baocheng B
Publication Date: 2023-01-10

Variant appearance in text: rs1260326
PubMed Link: 36627697
Variant Present in the following documents:
  • Main text
  • 12902_2022_Article_1234.pdf
View BVdb publication page



Investigating sex-specific associations of lipid traits with type 2 diabetes, glycemic traits and sex hormones using Mendelian randomization.

Cardiovascular Diabetology
Yang, Guoyi G; Schooling, C Mary CM
Publication Date: 2023-01-09

Variant appearance in text: rs1260326
PubMed Link: 36624450
Variant Present in the following documents:
  • Main text
  • 12933_2022_Article_1714.pdf
View BVdb publication page



Low vitamin D concentrations and BMI are causal factors for primary biliary cholangitis: A mendelian randomization study.

Frontiers In Immunology
Xu, Honglin H; Wu, Ziyan Z; Feng, Futai F; Li, Yongzhe Y; Zhang, Shulan S
Publication Date: 2022

Variant appearance in text: rs1260326
PubMed Link: 36605198
Variant Present in the following documents:
  • Main text
  • fimmu-13-1055953.pdf
View BVdb publication page



Pathological Connections between Nonalcoholic Fatty Liver Disease and Chronic Kidney Disease.

Kidney Diseases (Basel, Switzerland)
Liu, Huixia H; Zhang, Chun C; Xiong, Jing J
Publication Date: 2022-12

Variant appearance in text: rs1260326
PubMed Link: 36590682
Variant Present in the following documents:
  • Main text
  • kdd-0008-0458.pdf
View BVdb publication page



Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs1260326
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Association of Inherited Genetic Factors With Drug-Induced Hepatic Damage Among Children With Acute Lymphoblastic Leukemia.

Jama Network Open
Yang, Wenjian W; Karol, Seth E SE; Hoshitsuki, Keito K; Lee, Shawn S; Larsen, Eric C EC; Winick, Naomi N; Carroll, William L WL; Loh, Mignon L ML; Raetz, Elizabeth A EA; Hunger, Stephen P SP; Winter, Stuart S SS; Dunsmore, Kimberly P KP; Devidas, Meenakshi M; Relling, Mary V MV; Yang, Jun J JJ
Publication Date: 2022-12-01

Variant appearance in text: rs1260326
PubMed Link: 36580335
Variant Present in the following documents:
  • jamanetwopen-e2248803-s001.pdf
View BVdb publication page



A case of NASH with genetic predisposition successfully treated with an SGLT2 inhibitor: a possible involvement of mitochondrial dysfunction.

Endocrinology, Diabetes & Metabolism Case Reports
Nakajima, Rikako R; Sekiya, Motohiro M; Furuta, Yasuhisa Y; Miyamoto, Takafumi T; Sato, Masashi M; Fukuda, Kuniaki K; Hattori, Keiichiro K; Suehara, Yasuhito Y; Sakata-Yanagimoto, Mamiko M; Chiba, Shigeru S; Okajima, Yuka Y; Matsuzaka, Takashi T; Takase, Satoru S; Takanashi, Mikio M; Okazaki, Hiroaki H; Takashima, Yusuke Y; Yuhara, Mikiko M; Mitani, Yuta Y; Matsumoto, Nako N; Murayama, Yuki Y; Ohyama Osawa, Mariko M; Ohuchi, Nami N; Yamazaki, Daichi D; Mori, Sayuri S; Sugano, Yoko Y; Osaki, Yoshinori Y; Iwasaki, Hitoshi H; Suzuki, Hiroaki H; Shimano, Hitoshi H
Publication Date: 2022-12-01

Variant appearance in text: GCKR: L446P; rs1260326
PubMed Link: 36571472
Variant Present in the following documents:
  • Main text
  • EDM22-0368.pdf
View BVdb publication page



Aggregation of Genome-Wide Association Data from FinnGen and UK Biobank Replicates Multiple Risk Loci for Pregnancy Complications.

Genes
Changalidis, Anton I AI; Maksiutenko, Evgeniia M EM; Barbitoff, Yury A YA; Tkachenko, Alexander A AA; Vashukova, Elena S ES; Pachuliia, Olga V OV; Nasykhova, Yulia A YA; Glotov, Andrey S AS
Publication Date: 2022-11-30

Variant appearance in text: rs1260326
PubMed Link: 36553520
Variant Present in the following documents:
  • Main text
  • genes-13-02255.pdf
View BVdb publication page



Current insights in molecular characterization of non-alcoholic fatty liver disease and treatment.

Frontiers In Endocrinology
Che, Wensheng W; Zhao, Ming M; Li, Xiaoqing X; Li, Chunlong C; Cho, William C WC; Yu, Shan S
Publication Date: 2022

Variant appearance in text: rs1260326
PubMed Link: 36523601
Variant Present in the following documents:
  • Main text
  • fendo-13-1002916.pdf
View BVdb publication page



Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank.

Cell Reports. Medicine
Park, Joseph J; MacLean, Matthew T MT; Lucas, Anastasia M AM; Torigian, Drew A DA; Schneider, Carolin V CV; Cherlin, Tess T; Xiao, Brenda B; Miller, Jason E JE; Bradford, Yuki Y; Judy, Renae L RL; , ; Verma, Anurag A; Damrauer, Scott M SM; Ritchie, Marylyn D MD; Witschey, Walter R WR; Rader, Daniel J DJ
Publication Date: 2022-12-06

Variant appearance in text: GCKR: L446P
PubMed Link: 36513072
Variant Present in the following documents:
  • Main text
  • mmc3.xlsx, sheet 2
  • main.pdf
  • mmc8.pdf
View BVdb publication page



A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma.

Nature Communications
Seviiri, Mathias M; Law, Matthew H MH; Ong, Jue-Sheng JS; Gharahkhani, Puya P; Fontanillas, Pierre P; , ; Olsen, Catherine M CM; Whiteman, David C DC; MacGregor, Stuart S
Publication Date: 2022-12-10

Variant appearance in text: rs1260326
PubMed Link: 36496446
Variant Present in the following documents:
  • Main text
  • 41467_2022_35345_MOESM1_ESM.pdf
  • 41467_2022_Article_35345.pdf
View BVdb publication page



Polymorphisms, diet and nutrigenomics.

Journal Of Preventive Medicine And Hygiene
Kiani, Aysha Karim AK; Bonetti, Gabriele G; Donato, Kevin K; Kaftalli, Jurgen J; Herbst, Karen L KL; Stuppia, Liborio L; Fioretti, Francesco F; Nodari, Savina S; Perrone, Marco M; Chiurazzi, Pietro P; Bellinato, Francesco F; Gisondi, Paolo P; Bertelli, Matteo M
Publication Date: 2022-06

Variant appearance in text: rs1260326
PubMed Link: 36479483
Variant Present in the following documents:
  • Main text
  • jpmh-2022-02-e125.pdf
View BVdb publication page



Genetics in non-alcoholic fatty liver disease: The role of risk alleles through the lens of immune response.

Clinical And Molecular Hepatology
Sookoian, Silvia S; Pirola, Carlos J CJ
Publication Date: 2022-12-05

Variant appearance in text: rs1260326
PubMed Link: 36472053
Variant Present in the following documents:
  • cmh-2022-0318.pdf
View BVdb publication page