UGT1A6 c.862-8098A>C

Variant ID: 2-234667582-A-C

NM_001072.3(UGT1A6):c.862-8098A>C

This variant was identified in 37 publications

View GRCh38 version.




Publications:


Genetic polymorphisms influencing deferasirox pharmacokinetics, efficacy, and adverse drug reactions: a systematic review and meta-analysis.

Frontiers In Pharmacology
Yampayon, Kittika K; Anantachoti, Puree P; Chongmelaxme, Bunchai B; Yodsurang, Varalee V
Publication Date: 2023

Variant appearance in text: rs3755319
PubMed Link: 37261288
Variant Present in the following documents:
  • DataSheet1.pdf
View BVdb publication page



Infant Exposure to Antituberculosis Drugs via Breast Milk and Assessment of Potential Adverse Effects in Breastfed Infants: Critical Review of Data.

Pharmaceutics
Algharably, Engi Abdelhady EA; Kreutz, Reinhold R; Gundert-Remy, Ursula U
Publication Date: 2023-04-13

Variant appearance in text: rs3755319
PubMed Link: 37111713
Variant Present in the following documents:
  • Main text
  • pharmaceutics-15-01228.pdf
View BVdb publication page



Therapeutic and Toxic Effects of Valproic Acid Metabolites.

Metabolites
Shnayder, Natalia A NA; Grechkina, Violetta V VV; Khasanova, Aiperi K AK; Bochanova, Elena N EN; Dontceva, Evgenia A EA; Petrova, Marina M MM; Asadullin, Azat R AR; Shipulin, German A GA; Altynbekov, Kuanysh S KS; Al-Zamil, Mustafa M; Nasyrova, Regina F RF
Publication Date: 2023-01-16

Variant appearance in text: rs3755319
PubMed Link: 36677060
Variant Present in the following documents:
  • Main text
  • metabolites-13-00134.pdf
View BVdb publication page



Transporter and metabolizer gene polymorphisms affect fluoroquinolone pharmacokinetic parameters.

Frontiers In Pharmacology
Annisa, Nurul N; Barliana, Melisa I MI; Santoso, Prayudi P; Ruslami, Rovina R
Publication Date: 2022

Variant appearance in text: rs3755319
PubMed Link: 36588725
Variant Present in the following documents:
  • Main text
  • fphar-13-1063413.pdf
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: rs3755319
PubMed Link: 36580335
Variant Present in the following documents:
  • jamanetwopen-e2248803-s001.pdf
View BVdb publication page



Population Pharmacokinetics of Levofloxacin and Moxifloxacin, and the Probability of Target Attainment in Ethiopian Patients with Multidrug-Resistant Tuberculosis.

Infection And Drug Resistance
Sidamo, Temesgen T; Rao, Prakruti S PS; Aklillu, Eleni E; Shibeshi, Workineh W; Park, Yumi Y; Cho, Yong-Soon YS; Shin, Jae-Gook JG; Heysell, Scott K SK; Mpagama, Stellah G SG; Engidawork, Ephrem E
Publication Date: 2022

Variant appearance in text: rs3755319
PubMed Link: 36465811
Variant Present in the following documents:
  • Main text
  • idr-15-6839.pdf
View BVdb publication page



The Mutation Hotspots at UGT1A Locus May Be Associated with Gilbert's Syndrome Affecting the Taiwanese Population.

International Journal Of Molecular Sciences
Hsu, Paul Wei-Che PW; Liao, Po-Cheng PC; Kao, Yu-Hsiang YH; Lin, Xin-Yu XY; Chien, Rong-Nan RN; Yeh, Chau-Ting CT; Lai, Chi-Chun CC; Shyu, Yu-Chiau YC; Lin, Chih-Lang CL
Publication Date: 2022-10-21

Variant appearance in text: rs3755319
PubMed Link: 36293566
Variant Present in the following documents:
  • ijms-23-12709.pdf
View BVdb publication page



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: rs3755319
PubMed Link: 35512135
Variant Present in the following documents:
  • EMS145648-supplement-Supplementary_file.pdf
View BVdb publication page



Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology
Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J
Publication Date: 2021-09

Variant appearance in text: rs3755319
PubMed Link: 34621706
Variant Present in the following documents:
  • Main text
  • tcp-29-135-s001.xls, sheet 1
  • tcp-29-135.pdf
View BVdb publication page



The effects of genetic polymorphisms on benzene-exposed workers: A systematic review.

Health Science Reports
Ramírez-Lopera, Verónica V; Uribe-Castro, Daniel D; Bautista-Amorocho, Henry H; Silva-Sayago, Jorge Alexander JA; Mateus-Sánchez, Enrique E; Ardila-Barbosa, Wilman Yesid WY; Pérez-Cala, Tania Liseth TL
Publication Date: 2021-09

Variant appearance in text: rs3755319
PubMed Link: 34295994
Variant Present in the following documents:
  • Main text
  • HSR2-4-e327.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: rs3755319
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: rs3755319
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Pharmacogenomics of Antibiotics.

International Journal Of Molecular Sciences
Stocco, Gabriele G; Lucafò, Marianna M; Decorti, Giuliana G
Publication Date: 2020-08-19

Variant appearance in text: rs3755319
PubMed Link: 32825180
Variant Present in the following documents:
  • Main text
  • ijms-21-05975.pdf
View BVdb publication page



Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics
Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR
Publication Date: 2021-01

Variant appearance in text: rs3755319
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays.

Frontiers In Genetics
Gailite, Linda L; Valenzuela-Palomo, Alberto A; Sanoguera-Miralles, Lara L; Rots, Dmitrijs D; Kreile, Madara M; Velasco, Eladio A EA
Publication Date: 2020

Variant appearance in text: rs3755319
PubMed Link: 32211025
Variant Present in the following documents:
  • Main text
  • fgene-11-00169.pdf
View BVdb publication page



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: rs3755319
PubMed Link: 32084209
Variant Present in the following documents:
  • Main text
  • pone.0229374.pdf
View BVdb publication page



Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports
AlSafar, Habiba S HS; Al-Ali, Mariam M; Elbait, Gihan Daw GD; Al-Maini, Mustafa H MH; Ruta, Dymitr D; Peramo, Braulio B; Henschel, Andreas A; Tay, Guan K GK
Publication Date: 2019-10-11

Variant appearance in text: rs3755319
PubMed Link: 31604968
Variant Present in the following documents:
  • 41598_2019_50876_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Effects of genetic variability on rifampicin and isoniazid pharmacokinetics in South African patients with recurrent tuberculosis.

Pharmacogenomics
Naidoo, Anushka A; Chirehwa, Maxwell M; Ramsuran, Veron V; McIlleron, Helen H; Naidoo, Kogieleum K; Yende-Zuma, Nonhlanhla N; Singh, Ravesh R; Ncgapu, Sinaye S; Adamson, John J; Govender, Katya K; Denti, Paolo P; Padayatchi, Nesri N
Publication Date: 2019-03

Variant appearance in text: rs3755319
PubMed Link: 30767706
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs3755319
PubMed Link: 30621171
Variant Present in the following documents:
  • Main text
View BVdb publication page



Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine.

Bmc Medical Genomics
,
Publication Date: 2018-11-27

Variant appearance in text: rs3755319
PubMed Link: 30482208
Variant Present in the following documents:
  • 12920_2018_423_MOESM1_ESM.pdf
View BVdb publication page



Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome.

Bmc Pediatrics
Gailite, Linda L; Rots, Dmitrijs D; Pukite, Ieva I; Cernevska, Gunta G; Kreile, Madara M
Publication Date: 2018-10-03

Variant appearance in text: rs3755319
PubMed Link: 30285761
Variant Present in the following documents:
  • Main text
  • 12887_2018_Article_1285.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: rs3755319
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Effect of genetic variation in UGT1A and ABCB1 on moxifloxacin pharmacokinetics in South African patients with tuberculosis.

Pharmacogenomics
Naidoo, Anushka A; Ramsuran, Veron V; Chirehwa, Maxwell M; Denti, Paolo P; McIlleron, Helen H; Naidoo, Kogieleum K; Yende-Zuma, Nonhlanhla N; Singh, Ravesh R; Ngcapu, Sinaye S; Chaudhry, Mamoonah M; Pepper, Michael S MS; Padayatchi, Nesri N
Publication Date: 2018-01

Variant appearance in text: rs3755319
PubMed Link: 29210323
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics
Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR
Publication Date: 2017-03

Variant appearance in text: rs3755319
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



Inherited variation in OATP1B1 is associated with treatment outcome in acute myeloid leukemia.

Clinical Pharmacology And Therapeutics
Drenberg, C D CD; Paugh, S W SW; Pounds, S B SB; Shi, L L; Orwick, S J SJ; Li, L L; Hu, S S; Gibson, A A AA; Ribeiro, R C RC; Rubnitz, J E JE; Evans, W E WE; Sparreboom, A A; Baker, S D SD
Publication Date: 2016-06

Variant appearance in text: rs3755319
PubMed Link: 26663398
Variant Present in the following documents:
  • Main text
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: rs3755319
PubMed Link: 26628212
Variant Present in the following documents:
  • Main text
  • 12863_2015_Article_291.pdf
View BVdb publication page



The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
Publication Date: 2015

Variant appearance in text: rs3755319
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page



Genetic variation in the UGT1A locus is associated with simvastatin efficacy in a clinical practice setting.

Pharmacogenomics
Iwuchukwu, Otito F OF; Feng, QiPing Q; Wei, Wei-Qi WQ; Jiang, Lan L; Jiang, Min M; Xu, Hua H; Denny, Joshua C JC; Wilke, Russell A RA; Krauss, Ronald M RM; Roden, Dan M DM; Stein, C Michael CM
Publication Date: 2014-11

Variant appearance in text: rs3755319
PubMed Link: 25493567
Variant Present in the following documents:
  • Main text
View BVdb publication page



The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports
Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK
Publication Date: 2014

Variant appearance in text: rs3755319
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports
Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD
Publication Date: 2014-07

Variant appearance in text: rs3755319
PubMed Link: 24944790
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive variant screening of the UGT gene family.

Yonsei Medical Journal
Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Byung Lae BL; Kim, Lyoung Hyo LH; Namgoong, Suhg S; Kim, Ji On JO; Kim, Hae Deun HD; Kim, Young Hoon YH; Chung, Myeon Woo MW; Han, Soon Young SY; Shin, Hyoung Doo HD
Publication Date: 2014-01

Variant appearance in text: rs3755319
PubMed Link: 24339312
Variant Present in the following documents:
  • ymj-55-232.pdf
View BVdb publication page



Preclinical discovery of candidate genes to guide pharmacogenetics during phase I development: the example of the novel anticancer agent ABT-751.

Pharmacogenetics And Genomics
Innocenti, Federico F; Ramírez, Jacqueline J; Obel, Jennifer J; Xiong, Julia J; Mirkov, Snezana S; Chiu, Yi-Lin YL; Katz, David A DA; Carr, Robert A RA; Zhang, Wei W; Das, Soma S; Adjei, Araba A; Moyer, Ann M AM; Chen, Pei Xian PX; Krivoshik, Andrew A; Medina, Diane D; Gordon, Gary B GB; Ratain, Mark J MJ; Sahelijo, Leonardo L; Weinshilboum, Richard M RM; Fleming, Gini F GF; Bhathena, Anahita A
Publication Date: 2013-07

Variant appearance in text: rs3755319
PubMed Link: 23670235
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: rs3755319
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: rs3755319
PubMed Link: 22558097
Variant Present in the following documents:
  • Main text
  • pone.0034741.pdf
View BVdb publication page



Analysis of pharmacogenetic traits in two distinct South African populations.

Human Genomics
Ikediobi, Ogechi O; Aouizerat, Bradley B; Xiao, Yuanyuan Y; Gandhi, Monica M; Gebhardt, Stefan S; Warnich, Louise L
Publication Date: 2011-05

Variant appearance in text: rs3755319
PubMed Link: 21712189
Variant Present in the following documents:
  • Main text
View BVdb publication page



Serum bilirubin levels on ICU admission are associated with ARDS development and mortality in sepsis.

Thorax
Zhai, R R; Sheu, C C CC; Su, L L; Gong, M N MN; Tejera, P P; Chen, F F; Wang, Z Z; Convery, M P MP; Thompson, B T BT; Christiani, D C DC
Publication Date: 2009-09

Variant appearance in text: rs3755319
PubMed Link: 19482841
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: rs3755319
PubMed Link: 17909964
Variant Present in the following documents:
  • Main text
View BVdb publication page