American Lung Association. Lung Cancer Fact Sheet | American Lung Association [Internet]. Chicago, IL: American Lung Association; 2022 [updated 2022 November 17; cited 2023 February 22]. Available from: https://www.lung.org/lung-health-diseases/lung-disease-lookup/lung-cancer/resource-library/lung-cancer-fact-sheet.
McDonagh EM, Wassenaar C, David SP, Tyndale RF, Altman RB, Whirl-Carrillo M, et al. PharmGKB summary: very important pharmacogene information for cytochrome P-450, family 2, subfamily A, polypeptide 6. Pharmacogenet Genomics. 2012;22:695–708.
Article CAS PubMed PubMed Central Google Scholar
Benowitz NL. Clinical pharmacology of nicotine: implications for understanding, preventing, and treating tobacco addiction. Clin Pharm Ther. 2008;83:531–41.
Dempsey D, Tutka P, Jacob P, Allen F, Schoedel K, Tyndale RF, et al. Nicotine metabolite ratio as an index of cytochrome P450 2A6 metabolic activity. Clin Pharm Ther. 2004;76:64–72.
Lerman C, Tyndale R, Patterson F, Wileyto EP, Shields PG, Pinto A, et al. Nicotine metabolite ratio predicts efficacy of transdermal nicotine for smoking cessation. Clin Pharm Ther. 2006;79:600–8.
Benowitz NL, Pomerleau OF, Pomerleau CS, Jacob P. Nicotine metabolite ratio as a predictor of cigarette consumption. Nicotine Tob Res. 2003;5:621–4.
Article CAS PubMed Google Scholar
Wassenaar CA, Ye Y, Cai Q, Aldrich MC, Knight J, Spitz MR, et al. CYP2A6 reduced activity gene variants confer reduction in lung cancer risk in African American smokers-findings from two independent populations. Carcinogenesis. 2015;36:99–103.
Article CAS PubMed Google Scholar
Byun J, Han Y, Li Y, Xia J, Long E, Choi J, et al. Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer. Nat Genet. 2022;54:1167–77.
Article CAS PubMed PubMed Central Google Scholar
Liu T, David SP, Tyndale RF, Wang H, Zhou Q, Ding P, et al. Associations of CYP2A6 genotype with smoking behaviors in southern China. Addiction. 2011;106:985–94.
Article PubMed PubMed Central Google Scholar
Wassenaar CA, Dong Q, Wei Q, Amos CI, Spitz MR, Tyndale RF. Relationship between CYP2A6 and CHRNA5-CHRNA3-CHRNB4 variation and smoking behaviors and lung cancer risk. J Natl Cancer Inst. 2011;103:1342–6.
Article CAS PubMed PubMed Central Google Scholar
El-Boraie A, Taghavi T, Chenoweth MJ, Fukunaga K, Mushiroda T, Kubo M, et al. Evaluation of a weighted genetic risk score for the prediction of biomarkers of CYP2A6 activity. Addict Biol. 2020;25:e12741.
El-Boraie A, Chenoweth MJ, Pouget JG, Benowitz NL, Fukunaga K, Mushiroda T, et al. Transferability of ancestry-specific and cross-ancestry CYP2A6 activity genetic risk scores in African and European populations. Clin Pharmacol Ther. 2021;110:975–85.
Nunoya K, Yokoi T, Kimura K, Inoue K, Kodama T, Funayama M, et al. A new deleted allele in the human cytochrome P450 2A6 (CYP2A6) gene found in individuals showing poor metabolic capacity to coumarin and (+)-cis-3,5-dimethyl-2-(3-pyridyl)thiazolidin-4-one hydrochloride (SM-12502). Pharmacogenetics. 1998;8:239–49.
Article CAS PubMed Google Scholar
Oscarson M, McLellan RA, Asp V, Ledesma M, Bernal Ruiz ML, Sinues B, et al. Characterization of a novel CYP2A7/CYP2A6 hybrid allele (CYP2A6*12) that causes reduced CYP2A6 activity. Hum Mutat. 2002;20:275–83.
Article CAS PubMed Google Scholar
Rao Y, Hoffmann E, Zia M, Bodin L, Zeman M, Sellers EM, et al. Duplications and defects in the CYP2A6 gene: identification, genotyping, and in vivo effects on smoking. Mol Pharm. 2000;58:747–55.
di Iulio J, Fayet A, Arab-Alameddine M, Rotger M, Lubomirov R, Cavassini M, et al. In vivo analysis of efavirenz metabolism in individuals with impaired CYP2A6 function. Pharmacogenet Genomics. 2009;19:300–9.
Pharmacogene Variation Consortium. CYP2A6 [Internet]. Kansas City, MO: Pharmacogene Variation Consortium; 2022 [updated 2022 October 11; cited 2023 February 22]. Available from: https://www.pharmvar.org/gene/CYP2A6.
Chen LS, Hartz SM, Baker TB, Ma Y, Saccone L, Bierut N, et al. Use of polygenic risk scores of nicotine metabolism in predicting smoking behaviors. Pharmacogenomics. 2018;19:1383–94.
Article CAS PubMed PubMed Central Google Scholar
Wassenaar CA, Zhou Q, Tyndale RF. CYP2A6 genotyping methods and strategies using real-time and end point PCR platforms. Pharmacogenomics. 2016;17:147–62.
Article CAS PubMed Google Scholar
Langlois AWR, El-Boraie A, Fukunaga K, Mushiroda T, Kubo M, Lerman C, et al. Accuracy and applications of sequencing and genotyping approaches for CYP2A6 and homologous genes. Pharmacogenet Genomics. 2022;32:159–72.
Article CAS PubMed Google Scholar
Cox LS, Faseru B, Mayo MS, Krebill R, Snow TS, Bronars CA, et al. Design, baseline characteristics, and retention of African American light smokers into a randomized trial involving biological data. Trials. 2011;12:22.
Article PubMed PubMed Central Google Scholar
Nollen NL, Cox LS, Yu Q, Ellerbeck EF, Scheuermann TS, Benowitz NL, et al. A clinical trial to examine disparities in quitting between African-American and White adult smokers: design, accrual, and baseline characteristics. Contemp Clin Trials. 2016;47:12–21.
Sekar A, Bialas AR, de Rivera H, Davis A, Hammond TR, Kamitaki N, et al. Schizophrenia risk from complex variation of complement component 4. Nature. 2016;530:177–83.
Article CAS PubMed PubMed Central Google Scholar
Leffler EM, Band G, Busby GBJ, Kivinen K, Le QS, Clarke GM, et al. Resistance to malaria through structural variation of red blood cell invasion receptors. Science. 2017;356:eaam6393.
Häkkinen K, Kiiski JI, Lähteenvuo M, Jukuri T, Suokas K, Niemi-Pynttäri J, et al. Implementation of CYP2D6 copy-number imputation panel and frequency of key pharmacogenetic variants in Finnish individuals with a psychotic disorder. Pharmacogenomics J. 2022;22:166–72.
Article PubMed PubMed Central Google Scholar
Boettger LM, Salem RM, Handsaker RE, Peloso GM, Kathiresan S, Hirschhorn JN, et al. Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels. Nat Genet. 2016;48:359–66.
Article CAS PubMed PubMed Central Google Scholar
Lerman C, Schnoll RA, Hawk LW, Cinciripini P, George TP, Wileyto EP, et al. Use of the nicotine metabolite ratio as a genetically informed biomarker of response to nicotine patch or varenicline for smoking cessation: a randomised, double-blind placebo-controlled trial. Lancet Respir Med. 2015;3:131–8.
Article CAS PubMed PubMed Central Google Scholar
Cox LS, Nollen NL, Mayo MS, Choi WS, Faseru B, Benowitz NL, et al. Bupropion for smoking cessation in African American light smokers: a randomized controlled trial. J Natl Cancer Inst. 2012;104:290–8.
Article CAS PubMed PubMed Central Google Scholar
Chenoweth MJ, Ware JJ, Zhu AZX, Cole CB, Cox LS, Nollen N, et al. Genome-wide association study of a nicotine metabolism biomarker in African American smokers: impact of chromosome 19 genetic influences. Addiction. 2018;113:509–23.
Johansson LF, van Dijk F, de Boer EN, van Dijk-Bos KK, Jongbloed JD, van der Hout AH, et al. CoNVaDING: single exon variation detection in targeted NGS data. Hum Mutat. 2016;37:457–64.
Article CAS PubMed Google Scholar
Gaedigk A, Casey ST, Whirl-Carrillo M, Miller NA, Klein TE. Pharmacogene Variation Consortium: a global resource and repository for pharmacogene variation. Clin Pharm Ther. 2021;110:542–5.
Zhao S, Jing W, Samuels DC, Sheng Q, Shyr Y, Guo Y. Strategies for processing and quality control of Illumina genotyping arrays. Brief Bioinform. 2018;19:765–75.
Article CAS PubMed Google Scholar
Browning SR, Browning BL. Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. Am J Hum Genet. 2007;81:1084–97.
Article CAS PubMed PubMed Central Google Scholar
Sicko RJ, Romitti PA, Browne ML, Brody LC, Stevens CF, Mills JL, et al. Rare variants in RPPH1 real-time quantitative PCR control assay binding sites result in incorrect copy number calls. J Mol Diagn. 2022;24:33–40.
Article CAS PubMed PubMed Central Google Scholar
Nakano M, Fukushima Y, Yokota S, Fukami T, Takamiya M, Aoki Y, et al. CYP2A7 pseudogene transcript affects CYP2A6 expression in human liver by acting as a decoy for miR-126. Drug Metab Dispos. 2015;43:703–12.
Article CAS PubMed Google Scholar
Nofziger C, Turner AJ, Sangkuhl K, Whirl-Carrillo M, Agúndez JAG, Black JL, et al. PharmVar GeneFocus: CYP2D6. Clin Pharm Ther. 2020;107:154–70.
Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, et al. Origins and functional impact of copy number variation in the human genome. Nature. 2010;464:704–12.
Article CAS PubMed Google Scholar
Reid BM, Permuth JB, Chen YA, Fridley BL, Iversen ES, Chen Z, et al. Genome-wide analysis of common copy number variation and epithelial ovarian cancer risk. Cancer Epidemiol Biomark Prev. 2019;28:1117–26.
Walker LC, Marquart L, Pearson JF, Wiggins GA, O’Mara TA, Parsons MT, et al. Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers. Eur J Hum Genet. 2017;25:432–8.
留言 (0)