CYP2A6 c.1093G>A ;(p.V365M)

Variant ID: 19-41351267-C-T

NM_000762.5(CYP2A6):c.1093G>A;(p.V365M)

This variant was identified in 65 publications

View GRCh38 version.




Publications:


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: rs28399454
PubMed Link: 36677060
Variant Present in the following documents:
  • Main text
  • metabolites-13-00134.pdf
View BVdb publication page



Pharmacogenetics of CYP2A6, CYP2B6, and UGT2B7 in the Context of HIV Treatments in African Populations.

Journal Of Personalized Medicine
Ford, Graeme R GR; Niehaus, Antoinette A; Joubert, Fourie F; Pepper, Michael S MS
Publication Date: 2022-12-05

Variant appearance in text: rs28399454
PubMed Link: 36556234
Variant Present in the following documents:
  • Main text
  • jpm-12-02013.pdf
View BVdb publication page



Prevalence of exposure to pharmacogenetic drugs by the Saudis treated at the health care centers of the Ministry of National Guard.

Saudi Pharmaceutical Journal : Spj : The Official Publication Of The Saudi Pharmaceutical Society
Alshabeeb, Mohammad A MA; Alyabsi, Mesnad M; Paras, Bien B
Publication Date: 2022-08

Variant appearance in text: rs28399454
PubMed Link: 36164570
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



The genetic landscape of major drug metabolizing cytochrome P450 genes-an updated analysis of population-scale sequencing data.

The Pharmacogenomics Journal
Zhou, Yitian Y; Lauschke, Volker M VM
Publication Date: 2022-12

Variant appearance in text: CYP2A6: V365M; rs28399454
PubMed Link: 36068297
Variant Present in the following documents:
  • Main text
  • 41397_2022_Article_288.pdf
View BVdb publication page



Pharmacogenetics of Breast Cancer Treatments: A Sub-Saharan Africa Perspective.

Pharmacogenomics And Personalized Medicine
Nthontho, Keneuoe Cecilia KC; Ndlovu, Andrew Khulekani AK; Sharma, Kirthana K; Kasvosve, Ishmael I; Hertz, Daniel Louis DL; Paganotti, Giacomo Maria GM
Publication Date: 2022

Variant appearance in text: CYP2A6: V365M; rs28399454
PubMed Link: 35761855
Variant Present in the following documents:
  • Main text
  • pgpm-15-613.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: CYP2A6: V365M; rs28399454
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Analyses of nicotine metabolism biomarker genetics stratified by sex in African and European Americans.

Scientific Reports
Chenoweth, Meghan J MJ; Cox, Lisa Sanderson LS; Nollen, Nikki L NL; Ahluwalia, Jasjit S JS; Benowitz, Neal L NL; Lerman, Caryn C; Knight, Jo J; Tyndale, Rachel F RF
Publication Date: 2021-10-01

Variant appearance in text: CYP2A6: V365M; rs28399454
PubMed Link: 34599228
Variant Present in the following documents:
  • Main text
View BVdb publication page



Deciphering Structural Alterations Associated with Activity Reductions of Genetic Polymorphisms in Cytochrome P450 2A6 Using Molecular Dynamics Simulations.

International Journal Of Molecular Sciences
Kato, Koichi K; Nakayoshi, Tomoki T; Nokura, Rika R; Hosono, Hiroki H; Hiratsuka, Masahiro M; Ishikawa, Yoshinobu Y; Kurimoto, Eiji E; Oda, Akifumi A
Publication Date: 2021-09-19

Variant appearance in text: CYP2A6: V365M
PubMed Link: 34576282
Variant Present in the following documents:
  • Main text
  • ijms-22-10119.pdf
View BVdb publication page



Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes.

Clinical And Translational Science
El-Boraie, Ahmed A; Tanner, Julie-Anne JA; Zhu, Andy Z X AZX; Claw, Katrina G KG; Prasad, Bhagwat B; Schuetz, Erin G EG; Thummel, Kenneth E KE; Fukunaga, Koya K; Mushiroda, Taisei T; Kubo, Michiaki M; Benowitz, Neal L NL; Lerman, Caryn C; Tyndale, Rachel F RF
Publication Date: 2021-09-03

Variant appearance in text: CYP2A6: V365M
PubMed Link: 34476898
Variant Present in the following documents:
  • Main text
  • CTS-15-204.pdf
View BVdb publication page



Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes.

Clinical And Translational Science
El-Boraie, Ahmed A; Tanner, Julie-Anne JA; Zhu, Andy Z X AZX; Claw, Katrina G KG; Prasad, Bhagwat B; Schuetz, Erin G EG; Thummel, Kenneth E KE; Fukunaga, Koya K; Mushiroda, Taisei T; Kubo, Michiaki M; Benowitz, Neal L NL; Lerman, Caryn C; Tyndale, Rachel F RF
Publication Date: 2022-01

Variant appearance in text: CYP2A6: V365M
PubMed Link: 34476898
Variant Present in the following documents:
  • Main text
  • CTS-15-204.pdf
View BVdb publication page



Pharmacogenetics of tenofovir and emtricitabine penetration into cerebrospinal fluid.

Southern African Journal Of Hiv Medicine
Decloedt, Eric H EH; Sinxadi, Phumla Z PZ; Wiesner, Lubbe L; Joska, John A JA; Haas, David W DW; Maartens, Gary G
Publication Date: 2021

Variant appearance in text: rs28399454
PubMed Link: 34007475
Variant Present in the following documents:
  • Main text
View BVdb publication page



Biochemistry of nicotine metabolism and its relevance to lung cancer.

The Journal Of Biological Chemistry
Murphy, Sharon E SE
Publication Date: 2021

Variant appearance in text: CYP2A6: V365M; rs28399454
PubMed Link: 33932402
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment.

Antimicrobial Agents And Chemotherapy
Pernaute-Lau, Leyre L; Adegnika, Ayola Akim AA; Zhou, Yitian Y; Zinsou, Jeannot F JF; Gil, Jose Pedro JP; Krishna, Sanjeev S; Kremsner, Peter G PG; Lauschke, Volker M VM; Velavan, Thirumalaisamy P TP
Publication Date: 2021-06-17

Variant appearance in text: CYP2A6: V365M; rs28399454
PubMed Link: 33875422
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of Comprehensive Pharmacogenomic Profiling of VIP Variants Among the Genetically Isolated Chechen Subpopulation from Jordan.

Pharmacogenomics And Personalized Medicine
Al-Eitan, Laith N LN; Rababa'h, Doaa M DM; Hakooz, Nancy M NM; Alghamdi, Mansour A MA; Dajani, Rana B RB
Publication Date: 2020

Variant appearance in text: rs28399454
PubMed Link: 32765042
Variant Present in the following documents:
  • Main text
  • pgpm-13-199.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: CYP2A6: V365M; rs28399454
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A review of clinical pharmacogenetics Studies in African populations.

Personalized Medicine
Radouani, Fouzia F; Zass, Lyndon L; Hamdi, Yosr Y; Rocha, Jorge da JD; Sallam, Reem R; Abdelhak, Sonia S; Ahmed, Samah S; Azzouzi, Maryame M; Benamri, Ichrak I; Benkahla, Alia A; Bouhaouala-Zahar, Balkiss B; Chaouch, Melek M; Jmel, Haifa H; Kefi, Rym R; Ksouri, Ayoub A; Kumuthini, Judit J; Masilela, Phumlani P; Masimirembwa, Collen C; Othman, Houcemeddine H; Panji, Sumir S; Romdhane, Lilia L; Samtal, Chaimae C; Sibira, Rania R; Ghedira, Kais K; Fadlelmola, Faisal F; Kassim, Samar Kamal SK; Mulder, Nicola N
Publication Date: 2020-03

Variant appearance in text: rs28399454
PubMed Link: 32125935
Variant Present in the following documents:
  • NIHMS1694746-supplement-Supplementary_file.xlsx, sheet 9
View BVdb publication page



Genetic Polymorphisms of Pharmacogenes among the Genetically Isolated Circassian Subpopulation from Jordan.

Journal Of Personalized Medicine
Al-Eitan, Laith N LN; Rababa'h, Doaa M DM; Hakooz, Nancy M NM; Alghamdi, Mansour A MA; Dajani, Rana B RB
Publication Date: 2020-01-06

Variant appearance in text: rs28399454
PubMed Link: 31935801
Variant Present in the following documents:
  • Main text
  • jpm-10-00002.pdf
View BVdb publication page



Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China.

Molecular Genetics & Genomic Medicine
Zhang, Chan C; Guo, Weiwei W; Cheng, Yujing Y; Li, Qi Q; Yang, Xin X; Dai, Run R; Zhu, Linhao L; Chen, Wanlu W
Publication Date: 2019-05

Variant appearance in text: CYP2A6: Val365Met; rs28399454
PubMed Link: 30955239
Variant Present in the following documents:
  • Main text
  • MGG3-7-e574.pdf
View BVdb publication page



Genetic polymorphisms of pharmacogenomic VIP variants in the Lisu population of southwestern China: A cohort study.

Medicine
Li, Bin B; Wang, Li L; Lei, Lingyu L; Zhang, Mingxiang M; Niu, Fanglin F; Chen, Peng P; Jin, Tianbo T
Publication Date: 2018-09

Variant appearance in text: CYP2A6: Val365Met; rs28399454
PubMed Link: 30235667
Variant Present in the following documents:
  • medi-97-e12231.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: rs28399454
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

The Pharmacogenomics Journal
Zhou, Yitian Y; Mkrtchian, Souren S; Kumondai, Masaki M; Hiratsuka, Masahiro M; Lauschke, Volker M VM
Publication Date: 2019-04

Variant appearance in text: CYP2A6: V365M; rs28399454
PubMed Link: 30206299
Variant Present in the following documents:
  • 41397_2018_44_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic polymorphisms in very important pharmacogenomic variants in the Zhuang ethnic group of Southwestern China: A cohort study in the Zhuang population.

Medicine
Li, Jing J; Guo, Chenghao C; Yan, Mengdan M; Niu, Fanglin F; Chen, Peng P; Li, Bin B; Jin, Tianbo T
Publication Date: 2018-04

Variant appearance in text: CYP2A6: Val365Met; rs28399454
PubMed Link: 29703042
Variant Present in the following documents:
  • medi-97-e0559.pdf
View BVdb publication page



Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida.

American Journal Of Medical Genetics. Part A
Padula, Amy M AM; Yang, Wei W; Schultz, Kathleen K; Lurmann, Fred F; Hammond, S Katharine SK; Shaw, Gary M GM
Publication Date: 2018-05

Variant appearance in text: rs28399454
PubMed Link: 29681089
Variant Present in the following documents:
  • Main text
View BVdb publication page



P450 Pharmacogenetics in Indigenous North American Populations.

Journal Of Personalized Medicine
Henderson, Lindsay M LM; Claw, Katrina G KG; Woodahl, Erica L EL; Robinson, Renee F RF; Boyer, Bert B BB; Burke, Wylie W; Thummel, Kenneth E KE
Publication Date: 2018-02-01

Variant appearance in text: rs28399454
PubMed Link: 29389890
Variant Present in the following documents:
  • Main text
  • jpm-08-00009.pdf
View BVdb publication page



Variation in CYP2A6 Activity and Personalized Medicine.

Journal Of Personalized Medicine
Tanner, Julie-Anne JA; Tyndale, Rachel F RF
Publication Date: 2017-12-01

Variant appearance in text: CYP2A6: V365M; rs28399454
PubMed Link: 29194389
Variant Present in the following documents:
  • Main text
  • jpm-07-00018.pdf
View BVdb publication page



Genome-wide association study of a nicotine metabolism biomarker in African American smokers: impact of chromosome 19 genetic influences.

Addiction (Abingdon, England)
Chenoweth, Meghan J MJ; Ware, Jennifer J JJ; Zhu, Andy Z X AZX; Cole, Christopher B CB; Cox, Lisa Sanderson LS; Nollen, Nikki N; Ahluwalia, Jasjit S JS; Benowitz, Neal L NL; Schnoll, Robert A RA; Hawk, Larry W LW; Cinciripini, Paul M PM; George, Tony P TP; Lerman, Caryn C; Knight, Joanne J; Tyndale, Rachel F RF; ,
Publication Date: 2018-03

Variant appearance in text: rs28399454
PubMed Link: 28921760
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distribution of polymorphic variants of CYP2A6 and their involvement in nicotine addiction.

Excli Journal
López-Flores, Luis A LA; Pérez-Rubio, Gloria G; Falfán-Valencia, Ramcés R
Publication Date: 2017

Variant appearance in text: CYP2A6: Val365Met
PubMed Link: 28507465
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phenome-wide association study for CYP2A6 alleles: rs113288603 is associated with hearing loss symptoms in elderly smokers.

Scientific Reports
Polimanti, Renato R; Jensen, Kevin P KP; Gelernter, Joel J
Publication Date: 2017-04-21

Variant appearance in text: rs28399454
PubMed Link: 28432340
Variant Present in the following documents:
  • 41598_2017_1098_MOESM1_ESM.pdf
View BVdb publication page



Worldwide Distribution of Cytochrome P450 Alleles: A Meta-analysis of Population-scale Sequencing Projects.

Clinical Pharmacology And Therapeutics
Zhou, Y Y; Ingelman-Sundberg, M M; Lauschke, V M VM
Publication Date: 2017-10

Variant appearance in text: CYP2A6: V365M; rs28399454
PubMed Link: 28378927
Variant Present in the following documents:
  • Main text
  • CPT-102-688.pdf
View BVdb publication page



African Genetic Diversity: Implications for Cytochrome P450-mediated Drug Metabolism and Drug Development.

Ebiomedicine
Rajman, Iris I; Knapp, Laura L; Morgan, Thomas T; Masimirembwa, Collen C
Publication Date: 2017-03

Variant appearance in text: CYP2A6: V365M
PubMed Link: 28237373
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
View BVdb publication page



Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04

Variant appearance in text: CYP2A6: 1093G>A; Val365Met
PubMed Link: 28050010
Variant Present in the following documents:
  • srep37984-s2.xls, sheet 1
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: rs28399454
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
  • fpc-27-089-s004.xlsx, sheet 2
View BVdb publication page



Roles of Human CYP2A6 and Monkey CYP2A24 and 2A26 Cytochrome P450 Enzymes in the Oxidation of 2,5,2',5'-Tetrachlorobiphenyl.

Drug Metabolism And Disposition: The Biological Fate Of Chemicals
Shimada, Tsutomu T; Kakimoto, Kensaku K; Takenaka, Shigeo S; Koga, Nobuyuki N; Uehara, Shotaro S; Murayama, Norie N; Yamazaki, Hiroshi H; Kim, Donghak D; Guengerich, F Peter FP; Komori, Masayuki M
Publication Date: 2016-12

Variant appearance in text: CYP2A6: V365M
PubMed Link: 27625140
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel Association of Genetic Markers Affecting CYP2A6 Activity and Lung Cancer Risk.

Cancer Research
Patel, Yesha M YM; Park, Sunghim L SL; Han, Younghun Y; Wilkens, Lynne R LR; Bickeböller, Heike H; Rosenberger, Albert A; Caporaso, Neil N; Landi, Maria Teresa MT; Brüske, Irene I; Risch, Angela A; Wei, Yongyue Y; Christiani, David C DC; Brennan, Paul P; Houlston, Richard R; McKay, James J; McLaughlin, John J; Hung, Rayjean R; Murphy, Sharon S; Stram, Daniel O DO; Amos, Christopher C; Le Marchand, Loïc L
Publication Date: 2016-10-01

Variant appearance in text: rs28399454
PubMed Link: 27488534
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evidence for extensive pleiotropy among pharmacogenes.

Pharmacogenomics
Oetjens, Matthew T MT; Bush, William S WS; Denny, Joshua C JC; Birdwell, Kelly K; Kodaman, Nuri N; Verma, Anurag A; Dilks, Holli H HH; Pendergrass, Sarah A SA; Ritchie, Marylyn D MD; Crawford, Dana C DC
Publication Date: 2016-06

Variant appearance in text: rs28399454
PubMed Link: 27249515
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China.

Bmc Genetics
Jin, Tianbo T; Shi, Xugang X; Wang, Li L; Wang, Huijuan H; Feng, Tian T; Kang, Longli L
Publication Date: 2016-05-28

Variant appearance in text: rs28399454
PubMed Link: 27233804
Variant Present in the following documents:
  • Main text
  • 12863_2016_Article_379.pdf
View BVdb publication page



Genetic determinants of CYP2A6 activity across racial/ethnic groups with different risks of lung cancer and effect on their smoking intensity.

Carcinogenesis
Park, Sungshim L SL; Tiirikainen, Maarit I MI; Patel, Yesha M YM; Wilkens, Lynne R LR; Stram, Daniel O DO; Le Marchand, Loic L; Murphy, Sharon E SE
Publication Date: 2016-03

Variant appearance in text: rs28399454
PubMed Link: 26818358
Variant Present in the following documents:
  • Main text
View BVdb publication page



An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3'-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients.

Frontiers In Genetics
Swart, Marelize M; Evans, Jonathan J; Skelton, Michelle M; Castel, Sandra S; Wiesner, Lubbe L; Smith, Peter J PJ; Dandara, Collet C
Publication Date: 2015

Variant appearance in text: CYP2A6: 1093G>A; rs28399454
PubMed Link: 26779253
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms of pharmacogenomic VIP variants in the lhoba population of southwest China.

International Journal Of Clinical And Experimental Pathology
He, Yongjun Y; Yang, Hua H; Geng, Tingting T; Feng, Tian T; Yuan, Dongya D; Kang, Longli L; Luo, Manling M; Jin, Tianbo T
Publication Date: 2015

Variant appearance in text: rs28399454
PubMed Link: 26722533
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive Pharmacokinetic, Pharmacodynamic and Pharmacogenetic Evaluation of Once-Daily Efavirenz 400 and 600 mg in Treatment-Naïve HIV-Infected Patients at 96 Weeks: Results of the ENCORE1 Study.

Clinical Pharmacokinetics
Dickinson, Laura L; Amin, Janaki J; Else, Laura L; Boffito, Marta M; Egan, Deirdre D; Owen, Andrew A; Khoo, Saye S; Back, David D; Orrell, Catherine C; Clarke, Amanda A; Losso, Marcelo M; Phanuphak, Praphan P; Carey, Dianne D; Cooper, David A DA; Emery, Sean S; Puls, Rebekah R
Publication Date: 2016-07

Variant appearance in text: rs28399454
PubMed Link: 26715213
Variant Present in the following documents:
  • Main text
View BVdb publication page



CYP2A6 genotyping methods and strategies using real-time and end point PCR platforms.

Pharmacogenomics
Wassenaar, Catherine A CA; Zhou, Qian Q; Tyndale, Rachel F RF
Publication Date: 2016

Variant appearance in text: rs28399454
PubMed Link: 26670214
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs28399454
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Genetic Polymorphisms Analysis of Pharmacogenomic VIP Variants in Miao Ethnic Group of Southwest China.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Jin, Tianbo T; Aikemu, Ainiwaer A; Zhang, Mingxi M; Geng, Tingting T; Feng, Tian T; Kang, Longli L; Luo, Man Lin ML
Publication Date: 2015-12-03

Variant appearance in text: CYP2A6: Val365Met; rs28399454
PubMed Link: 26632549
Variant Present in the following documents:
  • Main text
  • medscimonit-21-3769.pdf
View BVdb publication page



Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China.

Bmc Genetics
Wang, Li L; Aikemu, Ainiwaer A; Yibulayin, Ayiguli A; Du, Shuli S; Geng, Tingting T; Wang, Bo B; Zhang, Yuan Y; Jin, Tianbo T; Yang, Jie J
Publication Date: 2015-06-20

Variant appearance in text: CYP2A6: Val365Met; rs28399454
PubMed Link: 26091847
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacokinetic and Pharmacodynamic Comparison of Once-Daily Efavirenz (400 mg vs. 600 mg) in Treatment-Naïve HIV-Infected Patients: Results of the ENCORE1 Study.

Clinical Pharmacology And Therapeutics
Dickinson, L L; Amin, J J; Else, L L; Boffito, M M; Egan, D D; Owen, A A; Khoo, S S; Back, D D; Orrell, C C; Clarke, A A; Losso, M M; Phanuphak, P P; Carey, D D; Cooper, D A DA; Emery, S S; Puls, R R; ,
Publication Date: 2015-10

Variant appearance in text: rs28399454
PubMed Link: 26044067
Variant Present in the following documents:
  • Main text
View BVdb publication page



PharmGKB summary: Efavirenz pathway, pharmacokinetics.

Pharmacogenetics And Genomics
McDonagh, Ellen M EM; Lau, Johnathan L JL; Alvarellos, Maria L ML; Altman, Russ B RB; Klein, Teri E TE
Publication Date: 2015-07

Variant appearance in text: CYP2A6: 1093G>A; Val365Met; rs28399454
PubMed Link: 25966836
Variant Present in the following documents:
  • Main text
View BVdb publication page



CYP2B6*6, CYP2B6*18, Body weight and sex are predictors of efavirenz pharmacokinetics and treatment response: population pharmacokinetic modeling in an HIV/AIDS and TB cohort in Zimbabwe.

Bmc Pharmacology & Toxicology
Dhoro, Milcah M; Zvada, Simbarashe S; Ngara, Bernard B; Nhachi, Charles C; Kadzirange, Gerald G; Chonzi, Prosper P; Masimirembwa, Collen C
Publication Date: 2015-03-27

Variant appearance in text: rs28399454
PubMed Link: 25889207
Variant Present in the following documents:
  • Main text
  • 40360_2015_Article_4.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: rs28399454
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page



Pharmacogenomics of antimicrobial agents.

Pharmacogenomics
Aung, Ar Kar AK; Haas, David W DW; Hulgan, Todd T; Phillips, Elizabeth J EJ
Publication Date: 2014

Variant appearance in text: rs28399454
PubMed Link: 25495412
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: CYP2A6: V365M; rs28399454
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
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Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China.

Bmc Genetics
Zhang, Jiayi J; Jin, Tianbo T; Yunus, Zulfiya Z; Li, Xiaolan X; Geng, Tingting T; Wang, Hong H; Cui, Yali Y; Chen, Chao C
Publication Date: 2014-09-30

Variant appearance in text: rs28399454
PubMed Link: 25266489
Variant Present in the following documents:
  • Main text
  • 12863_2014_Article_102.pdf
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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: rs28399454
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
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Secondary metabolism pathway polymorphisms and plasma efavirenz concentrations in HIV-infected adults with CYP2B6 slow metabolizer genotypes.

The Journal Of Antimicrobial Chemotherapy
Haas, David W DW; Kwara, Awewura A; Richardson, Danielle M DM; Baker, Paxton P; Papageorgiou, Ioannis I; Acosta, Edward P EP; Morse, Gene D GD; Court, Michael H MH
Publication Date: 2014-08

Variant appearance in text: rs28399454
PubMed Link: 24729586
Variant Present in the following documents:
  • Main text
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Inhibitory potency of 8-methoxypsoralen on cytochrome P450 2A6 (CYP2A6) allelic variants CYP2A6 15, CYP2A6 16, CYP2A6 21 and CYP2A6 22: differential susceptibility due to different sequence locations of the mutations.

Plos One
Tiong, Kai Hung KH; Mohammed Yunus, Nafees Ahemad NA; Yiap, Beow Chin BC; Tan, Eng Lai EL; Ismail, Rusli R; Ong, Chin Eng CE
Publication Date: 2014

Variant appearance in text: CYP2A6: V365M
PubMed Link: 24475091
Variant Present in the following documents:
  • pone.0086230.pdf
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Clinical and genetic determinants of plasma nevirapine exposure following an intrapartum dose to prevent mother-to-child HIV transmission.

The Journal Of Infectious Diseases
Vardhanabhuti, Saran S; Acosta, Edward P EP; Ribaudo, Heather J HJ; Severe, Patrice P; Lalloo, Umesh U; Kumarasamy, Nagalingeshwaran N; Taulo, Frank F; Kabanda, Joseph J; Oneko, Olola O; Ive, Prudence P; Sambarey, Pradeep P; Chan, Ellen S ES; Hitti, Jane J; Hong, Francis F; McMahon, Deborah D; Haas, David W DW; ,
Publication Date: 2013-08-15

Variant appearance in text: rs28399454
PubMed Link: 23687222
Variant Present in the following documents:
  • Main text
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Multiple genetic variants predict steady-state nevirapine clearance in HIV-infected Cambodians.

Pharmacogenetics And Genomics
Bertrand, Julie J; Chou, Monidarin M; Richardson, Danielle M DM; Verstuyft, Céline C; Leger, Paul D PD; Mentré, France F; Taburet, Anne-Marie AM; Haas, David W DW; ,
Publication Date: 2012-12

Variant appearance in text: rs28399454
PubMed Link: 23104099
Variant Present in the following documents:
  • Main text
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Genome-wide association study of plasma efavirenz pharmacokinetics in AIDS Clinical Trials Group protocols implicates several CYP2B6 variants.

Pharmacogenetics And Genomics
Holzinger, Emily R ER; Grady, Benjamin B; Ritchie, Marylyn D MD; Ribaudo, Heather J HJ; Acosta, Edward P EP; Morse, Gene D GD; Gulick, Roy M RM; Robbins, Gregory K GK; Clifford, David B DB; Daar, Eric S ES; McLaren, Paul P; Haas, David W DW
Publication Date: 2012-12

Variant appearance in text: rs28399454
PubMed Link: 23080225
Variant Present in the following documents:
  • Main text
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PharmGKB summary: very important pharmacogene information for cytochrome P-450, family 2, subfamily A, polypeptide 6.

Pharmacogenetics And Genomics
McDonagh, Ellen M EM; Wassenaar, Catherine C; David, Sean P SP; Tyndale, Rachel F RF; Altman, Russ B RB; Whirl-Carrillo, Michelle M; Klein, Teri E TE
Publication Date: 2012-09

Variant appearance in text: CYP2A6: V365M; rs28399454
PubMed Link: 22547082
Variant Present in the following documents:
  • Main text
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Use of a predictive model derived from in vivo endophenotype measurements to demonstrate associations with a complex locus, CYP2A6.

Human Molecular Genetics
Bloom, A Joseph AJ; Harari, Oscar O; Martinez, Maribel M; Madden, Pamela A F PA; Martin, Nicholas G NG; Montgomery, Grant W GW; Rice, John P JP; Murphy, Sharon E SE; Bierut, Laura J LJ; Goate, Alison A
Publication Date: 2012-07-01

Variant appearance in text: rs28399454
PubMed Link: 22451501
Variant Present in the following documents:
  • Main text
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