UGT1A1 c.865-2371C>T

Variant ID: 2-234673309-C-T

NM_000463.2(UGT1A1):c.865-2371C>T

This variant was identified in 24 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: rs4148325
PubMed Link: 37277652
Variant Present in the following documents:
  • 41588_2023_1409_MOESM4_ESM.pdf
  • 41588_2023_1409_MOESM5_ESM.pdf
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Chemotherapy-related hyperbilirubinemia in pediatric acute lymphoblastic leukemia: a genome-wide association study from the AIEOP-BFM ALL study group.

Journal Of Experimental & Clinical Cancer Research : Cr
Junk, Stefanie V SV; Schaeffeler, Elke E; Zimmermann, Martin M; Möricke, Anja A; Beier, Rita R; Schütte, Peter P; Fedders, Birthe B; Alten, Julia J; Hinze, Laura L; Klein, Norman N; Kulozik, Andreas A; Muckenthaler, Martina U MU; Koehler, Rolf R; Borkhardt, Arndt A; Vijayakrishnan, Jayaram J; Ellinghaus, David D; Forster, Michael M; Franke, Andre A; Wintering, Astrid A; Kratz, Christian P CP; Schrappe, Martin M; Schwab, Matthias M; Houlston, Richard S RS; Cario, Gunnar G; Stanulla, Martin M
Publication Date: 2023-01-13

Variant appearance in text: rs4148325
PubMed Link: 36639636
Variant Present in the following documents:
  • 13046_2022_2585_MOESM1_ESM.pdf
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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: rs4148325
PubMed Link: 36580335
Variant Present in the following documents:
  • jamanetwopen-e2248803-s001.pdf
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Genotyping of UGT1A1*80 as an Alternative to UGT1A1*28 Genotyping in Spain.

Pharmaceutics
Bravo-Gómez, Adrián A; Salvador-Martín, Sara S; Zapata-Cobo, Paula P; Sanjurjo-Sáez, María M; López-Fernández, Luis Andrés LA
Publication Date: 2022-09-29

Variant appearance in text: rs4148325
PubMed Link: 36297516
Variant Present in the following documents:
  • pharmaceutics-14-02082.pdf
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Crosstalk between Host Genome and Metabolome among People with HIV in South Africa.

Metabolites
Liu, Chang C; Wang, Zicheng Z; Hui, Qin Q; Chiang, Yiyun Y; Chen, Junyu J; Brijkumar, Jaysingh J; Edwards, Johnathan A JA; Ordonez, Claudia E CE; Dudgeon, Mathew R MR; Sunpath, Henry H; Pillay, Selvan S; Moodley, Pravi P; Kuritzkes, Daniel R DR; Moosa, Mohamed Y S MYS; Jones, Dean P DP; Marconi, Vincent C VC; Sun, Yan V YV
Publication Date: 2022-07-06

Variant appearance in text: rs4148325
PubMed Link: 35888748
Variant Present in the following documents:
  • metabolites-12-00624.pdf
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Pharmacogenetics of Dolutegravir Plasma Exposure Among Southern Africans With Human Immunodeficiency Virus.

The Journal Of Infectious Diseases
Cindi, Zinhle Z; Kawuma, Aida N AN; Maartens, Gary G; Bradford, Yuki Y; Venter, Francois F; Sokhela, Simiso S; Chandiwana, Nomathemba N; Wasmann, Roeland E RE; Denti, Paolo P; Wiesner, Lubbe L; Ritchie, Marylyn D MD; Haas, David W DW; Sinxadi, Phumla P
Publication Date: 2022-11-01

Variant appearance in text: rs4148325
PubMed Link: 35512135
Variant Present in the following documents:
  • EMS145648.pdf
  • EMS145648-supplement-Supplementary_file.pdf
View BVdb publication page



UGT1A1 genetic variants are associated with increases in bilirubin levels in rheumatoid arthritis patients treated with sarilumab.

The Pharmacogenomics Journal
Lin, Nan N; Damask, Amy A; Boyapati, Anita A; Hamilton, Jennifer D JD; Hamon, Sara S; Ternes, Nils N; Nivens, Michael C MC; Penn, John J; Lopez, Alexander A; Reid, Jeffrey G JG; Overton, John J; Shuldiner, Alan R AR; Abecasis, Goncalo G; Baras, Aris A; Paulding, Charles C
Publication Date: 2022-05

Variant appearance in text: rs4148325
PubMed Link: 35149777
Variant Present in the following documents:
  • Main text
  • 41397_2022_Article_269.pdf
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A genome-wide association study on liver enzymes in Korean population.

Plos One
Seo, Ji Yeon JY; Lee, Jong-Eun JE; Chung, Goh Eun GE; Shin, Eunsoon E; Kwak, Min-Sun MS; Yang, Jong In JI; Yim, Jeong Yoon JY
Publication Date: 2020

Variant appearance in text: rs4148325
PubMed Link: 32084209
Variant Present in the following documents:
  • Main text
  • pone.0229374.pdf
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Genome-Wide Association Study (GWAS) on Bilirubin Concentrations in Subjects with Metabolic Syndrome: Sex-Specific GWAS Analysis and Gene-Diet Interactions in a Mediterranean Population.

Nutrients
Coltell, Oscar O; Asensio, Eva M EM; Sorlí, José V JV; Barragán, Rocio R; Fernández-Carrión, Rebeca R; Portolés, Olga O; Ortega-Azorín, Carolina C; Martínez-LaCruz, Raul R; González, José I JI; Zanón-Moreno, Vicente V; Gimenez-Alba, Ignacio I; Fitó, Montserrat M; Ros, Emilio E; Ordovas, Jose M JM; Corella, Dolores D
Publication Date: 2019-01-04

Variant appearance in text: rs4148325
PubMed Link: 30621171
Variant Present in the following documents:
  • Main text
  • nutrients-11-00090.pdf
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs4148325
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Serum bilirubin concentration is modified by UGT1A1 haplotypes and influences risk of type-2 diabetes in the Norfolk Island genetic isolate.

Bmc Genetics
Benton, M C MC; Lea, R A RA; Macartney-Coxson, D D; Bellis, C C; Carless, M A MA; Curran, J E JE; Hanna, M M; Eccles, D D; Chambers, G K GK; Blangero, J J; Griffiths, L R LR
Publication Date: 2015-12-02

Variant appearance in text: rs4148325
PubMed Link: 26628212
Variant Present in the following documents:
  • Main text
  • 12863_2015_Article_291.pdf
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A GWAS Study on Liver Function Test Using eMERGE Network Participants.

Plos One
Namjou, Bahram B; Marsolo, Keith K; Lingren, Todd T; Ritchie, Marylyn D MD; Verma, Shefali S SS; Cobb, Beth L BL; Perry, Cassandra C; Kitchner, Terrie E TE; Brilliant, Murray H MH; Peissig, Peggy L PL; Borthwick, Kenneth M KM; Williams, Marc S MS; Grafton, Jane J; Jarvik, Gail P GP; Holm, Ingrid A IA; Harley, John B JB
Publication Date: 2015

Variant appearance in text: rs4148325
PubMed Link: 26413716
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome-Wide Association Study Identifies New Low-Frequency and Rare UGT1A1 Coding Variants and UGT1A6 Coding Variants Influencing Serum Bilirubin in Elderly Subjects: A Strobe Compliant Article.

Medicine
Oussalah, Abderrahim A; Bosco, Paolo P; Anello, Guido G; Spada, Rosario R; Guéant-Rodriguez, Rosa-Maria RM; Chery, Céline C; Rouyer, Pierre P; Josse, Thomas T; Romano, Antonino A; Elia, Maurizzio M; Bronowicki, Jean-Pierre JP; Guéant, Jean-Louis JL
Publication Date: 2015-06

Variant appearance in text: rs4148325
PubMed Link: 26039129
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phenome-wide Association Study Relating Pretreatment Laboratory Parameters With Human Genetic Variants in AIDS Clinical Trials Group Protocols.

Open Forum Infectious Diseases
Moore, Carrie B CB; Verma, Anurag A; Pendergrass, Sarah S; Verma, Shefali S SS; Johnson, Daniel H DH; Daar, Eric S ES; Gulick, Roy M RM; Haubrich, Richard R; Robbins, Gregory K GK; Ritchie, Marylyn D MD; Haas, David W DW
Publication Date: 2015-01

Variant appearance in text: rs4148325
PubMed Link: 25884002
Variant Present in the following documents:
  • Main text
  • ofu113.pdf
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Genome-wide analysis of hepatic lipid content in extreme obesity.

Acta Diabetologica
DiStefano, Johanna K JK; Kingsley, Christopher C; Craig Wood, G G; Chu, Xin X; Argyropoulos, George G; Still, Christopher D CD; Doné, Stefania Cotta SC; Legendre, Christophe C; Tembe, Waibhav W; Gerhard, Glenn S GS
Publication Date: 2015-04

Variant appearance in text: rs4148325
PubMed Link: 25246029
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide association study of the human metabolome in a community-based cohort.

Cell Metabolism
Rhee, Eugene P EP; Ho, Jennifer E JE; Chen, Ming-Huei MH; Shen, Dongxiao D; Cheng, Susan S; Larson, Martin G MG; Ghorbani, Anahita A; Shi, Xu X; Helenius, Iiro T IT; O'Donnell, Christopher J CJ; Souza, Amanda L AL; Deik, Amy A; Pierce, Kerry A KA; Bullock, Kevin K; Walford, Geoffrey A GA; Vasan, Ramachandran S RS; Florez, Jose C JC; Clish, Clary C; Yeh, J-R Joanna JR; Wang, Thomas J TJ; Gerszten, Robert E RE
Publication Date: 2013-07-02

Variant appearance in text: rs4148325
PubMed Link: 23823483
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of SNPs in the UGT1A gene cluster with total bilirubin and mortality in the Diabetes Heart Study.

Atherosclerosis
Cox, Amanda J AJ; Ng, Maggie C-Y MC; Xu, Jianzhao J; Langefeld, Carl D CD; Koch, Kenneth L KL; Dawson, Paul A PA; Carr, J Jeffrey JJ; Freedman, Barry I BI; Hsu, Fang-Chi FC; Bowden, Donald W DW
Publication Date: 2013-07

Variant appearance in text: rs4148325
PubMed Link: 23642732
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia.

Plos One
Milton, Jacqueline N JN; Sebastiani, Paola P; Solovieff, Nadia N; Hartley, Stephen W SW; Bhatnagar, Pallav P; Arking, Dan E DE; Dworkis, Daniel A DA; Casella, James F JF; Barron-Casella, Emily E; Bean, Christopher J CJ; Hooper, W Craig WC; DeBaun, Michael R MR; Garrett, Melanie E ME; Soldano, Karen K; Telen, Marilyn J MJ; Ashley-Koch, Allison A; Gladwin, Mark T MT; Baldwin, Clinton T CT; Steinberg, Martin H MH; Klings, Elizabeth S ES
Publication Date: 2012

Variant appearance in text: rs4148325
PubMed Link: 22558097
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide association study identifies UGT1A1 as a regulator of serum cell-free DNA in young adults: The Cardiovascular Risk in Young Finns Study.

Plos One
Jylhävä, Juulia J; Lyytikäinen, Leo-Pekka LP; Kähönen, Mika M; Hutri-Kähönen, Nina N; Kettunen, Johannes J; Viikari, Jorma J; Raitakari, Olli T OT; Lehtimäki, Terho T; Hurme, Mikko M
Publication Date: 2012

Variant appearance in text: rs4148325
PubMed Link: 22511988
Variant Present in the following documents:
  • Main text
  • pone.0035426.pdf
View BVdb publication page



Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels.

Mayo Clinic Proceedings
Bielinski, Suzette J SJ; Chai, High Seng HS; Pathak, Jyotishman J; Talwalkar, Jayant A JA; Limburg, Paul J PJ; Gullerud, Rachel E RE; Sicotte, Hugues H; Klee, Eric W EW; Ross, Jason L JL; Kocher, Jean-Pierre A JP; Kullo, Iftikhar J IJ; Heit, John A JA; Petersen, Gloria M GM; de Andrade, Mariza M; Chute, Christopher G CG
Publication Date: 2011-07

Variant appearance in text: rs4148325
PubMed Link: 21646302
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association meta-analysis for total serum bilirubin levels.

Human Molecular Genetics
Johnson, Andrew D AD; Kavousi, Maryam M; Smith, Albert V AV; Chen, Ming-Huei MH; Dehghan, Abbas A; Aspelund, Thor T; Lin, Jing-Ping JP; van Duijn, Cornelia M CM; Harris, Tamara B TB; Cupples, L Adrienne LA; Uitterlinden, Andre G AG; Launer, Lenore L; Hofman, Albert A; Rivadeneira, Fernando F; Stricker, Bruno B; Yang, Qiong Q; O'Donnell, Christopher J CJ; Gudnason, Vilmundur V; Witteman, Jacqueline C JC
Publication Date: 2009-07-15

Variant appearance in text: rs4148325
PubMed Link: 19414484
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms in uridine diphospho-glucuronosyltransferase 1A1 and breast cancer risk in Africans.

Breast Cancer Research And Treatment
Huo, Dezheng D; Kim, Hee-Jin HJ; Adebamowo, Clement A CA; Ogundiran, Temidayo O TO; Akang, Effiong E EE; Campbell, Oladapo O; Adenipekun, Adeniyi A; Niu, Qun Q; Sveen, Lise L; Fackenthal, James D JD; Fackenthal, Donna Lee DL; Das, Soma S; Cox, Nancy N; Di Rienzo, Anna A; Olopade, Olufunmilayo I OI
Publication Date: 2008-07

Variant appearance in text: rs4148325
PubMed Link: 17909964
Variant Present in the following documents:
  • Main text
View BVdb publication page