Resequencing CYP2D6 Gene in Indian Population: CYP2D6*41 Identified as the Major Reduced Function Allele

References

• Eichelbaum M , Ingelman-SundbergM , EvansWE. Pharmacogenomics and individualized drug therapy. Annu. Rev. Med.57, 119–137 (2006).
   PubMed Web of Science ®Google Scholar
• Owen RP , SangkuhlK , KleinTE , AltmanRB. Cytochrome P450 2D6. Pharmacogenet. Genomics19(7), 559–562 (2009).
   PubMed Web of Science ®Google Scholar
• Teh LK , BertilssonL. Pharmacogenomics of CYP2D6: molecular genetics, interethnic differences and clinical importance. Drug Metab. Pharmacokinet.27(1), 55–67 (2012).
   PubMed Web of Science ®Google Scholar
• Panserat S , MuraC , GérardNet al. An unequal cross-over event within the CYP2D gene cluster generates a chimeric CYP2D7/CYP2D6 gene which is associated with the poor metabolizer phenotype. Br. J. Clin. Pharmacol.40(4), 361–367 (1995).
   PubMed Web of Science ®Google Scholar
• Ingelman-Sundberg M . Genetic polymorphisms of cytochrome P450 2D6 (CYP2D6): clinical consequences, evolutionary aspects and functional diversity. Pharmacogenomics J.5(1), 6–13 (2005).
   PubMed Web of Science ®Google Scholar
• Zanger UM , RaimundoS , EichelbaumM. Cytochrome P450 2D6: overview and update on pharmacology, genetics, biochemistry. Naunyn. Schmiedebergs Arch. Pharmacol.369(1), 23–37 (2004).
   PubMed Web of Science ®Google Scholar
• Sakuyama K , SasakiT , UjiieSet al. Functional characterization of 17 CYP2D6 allelic variants (CYP2D6.2, 10, 14A-B, 18, 27, 36, 39, 47-51, 53-55, and 57). Drug Metab. Dispos. Biol. Fate Chem.36(12), 2460–2467 (2008).
   PubMed Web of Science ®Google Scholar
• Henn BM , Cavalli-SforzaLL , FeldmanMW. The great human expansion. Proc. Natl Acad. Sci. USA109(44), 17758–17764 (2012).
   PubMed Web of Science ®Google Scholar
• Bradford LD . CYP2D6 allele frequency in European Caucasians, Asians, Africans and their descendants . Pharmacogenomics3(2), 229–243 (2002).
   PubMed Web of Science ®Google Scholar
• Qin S , ShenL , ZhangAet al. Systematic polymorphism analysis of the CYP2D6 gene in four different geographical Han populations in mainland China. Genomics92(3), 152–158 (2008).
   PubMed Web of Science ®Google Scholar
• Masimirembwa C , PerssonI , BertilssonL , HaslerJ , Ingelman-SundbergM. A novel mutant variant of the CYP2D6 gene (CYP2D6*17) common in a black African population: association with diminished debrisoquine hydroxylase activity. Br. J. Clin. Pharmacol.42(6), 713–719 (1996).
   PubMed Web of Science ®Google Scholar
• Aklillu E , PerssonI , BertilssonL , JohanssonI , RodriguesF , Ingelman-SundbergM. Frequent distribution of ultrarapid metabolizers of debrisoquine in an ethiopian population carrying duplicated and multiduplicated functional CYP2D6 alleles. J. Pharmacol. Exp. Ther.278(1), 441–446 (1996).
   PubMed Web of Science ®Google Scholar
• McLellan RA , OscarsonM , SeidegårdJ , EvansDA , Ingelman-SundbergM. Frequent occurrence of CYP2D6 gene duplication in Saudi Arabians. Pharmacogenetics7(3), 187–191 (1997).
   PubMedGoogle Scholar
• Khlifi R , ChakrounA , Hamza-ChaffaiA , RebaiA. Association of CYP1A1 and CYP2D6 gene polymorphisms with head and neck cancer in Tunisian patients. Mol. Biol. Rep.41(4), 2591–2600 (2014).
   PubMed Web of Science ®Google Scholar
• Lu Y , QinX , LiSet al. Quantitative assessment of CYP2D6 polymorphisms and risk of Alzheimer’s disease: a meta-analysis. J. Neurol. Sci.343(1–2), 15–22 (2014).
   PubMed Web of Science ®Google Scholar
• Singh M , KhannaVK , ShuklaR , ParmarD. Association of polymorphism in cytochrome P450 2D6 and N-acetyltransferase-2 with Parkinson’s disease. Dis. Markers28(2), 87–93 (2010).
   PubMed Web of Science ®Google Scholar
• Peñas-Lledó EM , DoradoP , AgüeraZet al. CYP2D6 polymorphism in patients with eating disorders . Pharmacogenomics J.12(2), 173–175 (2012).
   PubMed Web of Science ®Google Scholar
• Blasco-Fontecilla H , Peñas-LledóE , Vaquero-LorenzoCet al. CYP2D6 polymorphism and mental and personality disorders in suicide attempters . J. Personal. Disord.28(6), 873–883 (2014).
   PubMed Web of Science ®Google Scholar
• Damodaran SE , PradhanSC , UmamaheswaranG , KadambariD , ReddyKS , AdithanC. Genetic polymorphisms of CYP2D6 increase the risk for recurrence of breast cancer in patients receiving tamoxifen as an adjuvant therapy. Cancer Chemother. Pharmacol.70(1), 75–81 (2012).
   PubMed Web of Science ®Google Scholar
• Steen VM , AndreassenOA , DalyAKet al. Detection of the poor metabolizer-associated CYP2D6(D) gene deletion allele by long-PCR technology. Pharmacogenetics5(4), 215–223 (1995).
   PubMedGoogle Scholar
• Stephens M , SmithNJ , DonnellyP. A new statistical method for haplotype reconstruction from population data. Am. J. Hum. Genet.68(4), 978–989 (2001).
   PubMed Web of Science ®Google Scholar
• Barrett JC . Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics.21(2), 263–265 (2005).
   PubMed Web of Science ®Google Scholar
• Gaedigk A , SimonS , PearceR , BradfordL , KennedyM , LeederJ. The CYP2D6 activity score: translating genotype information into a qualitative measure of phenotype. Clin. Pharmacol. Ther.83(2), 234–242 (2008).
   PubMed Web of Science ®Google Scholar
• Gaedigk A , SangkuhlK , Whirl-CarrilloM , KleinT , LeederJS. Prediction of CYP2D6 phenotype from genotype across world populations. Genet. Med.19(1), 69–76 (2017).
   PubMed Web of Science ®Google Scholar
• Ng PC , HenikoffS. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res.31(13), 3812–3814 (2003).
   PubMed Web of Science ®Google Scholar
• Adzhubei IA , SchmidtSPeshkinLet al. A method and server for predicting damaging missense mutations. Nat Methods7(4), 248–249 (2010).
   PubMed Web of Science ®Google Scholar
• Faber K , GlattingK-H , MuellerPJ , RischA , Hotz-WagenblattA. Genome-wide prediction of splice-modifying SNPs in human genes using a new analysis pipeline called AAS sites. BMC Bioinformatics12(Suppl. 4), S2 (2011).
   PubMedGoogle Scholar
• Ravindranath PA , SannerMF. AutoSite: an automated approach for pseudo-ligands prediction-from ligand-binding sites identification to predicting key ligand atoms. Bioinforma. Oxf. Engl.32(20), 3142–3149 (2016).
   PubMed Web of Science ®Google Scholar
• Sistonen J , SajantilaA , LaoO , CoranderJ , BarbujaniG , FuselliS. CYP2D6 worldwide genetic variation shows high frequency of altered activity variants and no continental structure . Pharmacogenet. Genomics17(2), 93–101 (2007).
   PubMed Web of Science ®Google Scholar
• Lee S-Y , SohnKM , RyuJY , YoonYR , ShinJG , KimJ-W. Sequence-based CYP2D6 genotyping in the Korean population. Ther. Drug Monit.28(3), 382–387 (2006).
   PubMed Web of Science ®Google Scholar
• Wang D , PoiMJ , SunX , GaedigkA , LeederJS , SadeeW. Common CYP2D6 polymorphisms affecting alternative splicing and transcription: long-range haplotypes with two regulatory variants modulate CYP2D6 activity. Hum. Mol. Genet.23(1), 268–278 (2014).
   PubMed Web of Science ®Google Scholar
• Montané Jaime LK , LallaA , SteimerW , GaedigkA. Characterization of the CYP2D6 gene locus and metabolic activity in Indo- and Afro-Trinidadians: discovery of novel allelic variants. Pharmacogenomics14(3), 261–276 (2013).
   PubMed Web of Science ®Google Scholar
• Kubota T , YamauraY , OhkawaN , HaraH , ChibaK. Frequencies of CYP2D6 mutant alleles in a normal Japanese population and metabolic activity of dextromethorphan O-demethylation in different CYP2D6 genotypes. Br. J. Clin. Pharmacol.50(1), 31–34 (2000).
   PubMed Web of Science ®Google Scholar
• Zhou Q , YuXM , LinHBet al. Genetic polymorphism, linkage disequilibrium, haplotype structure and novel allele analysis of CYP2C19 and CYP2D6 in Han Chinese. Pharmacogenomics J.9(6), 380–394 (2009).
   PubMed Web of Science ®Google Scholar
• Reich D , ThangarajK , PattersonN , PriceAL , SinghL. Reconstructing Indian population history. Nature461(7263), 489–494 (2009).
   PubMed Web of Science ®Google Scholar
• Al-Dosari MS , Al-JenoobiFI , AlkharfyKMet al. High prevalence of CYP2D6*41 (G2988A) allele in Saudi Arabians. Environ. Toxicol. Pharmacol.36(3), 1063–1067 (2013).
   PubMed Web of Science ®Google Scholar
• Naveen AT , AdithanC , SoyaSS , GerardN , KrishnamoorthyR. CYP2D6 genetic polymorphism in south Indian populations . Biol. Pharm. Bull.29(8), 1655–1658 (2006).
   PubMed Web of Science ®Google Scholar
• Contreras AV , Monge-CazaresT , Alfaro-RuizLet al. Resequencing, haplotype construction and identification of novel variants of CYP2D6 in Mexican Mestizos. Pharmacogenomics12(5), 745–756 (2011).
   PubMed Web of Science ®Google Scholar
• Garcia-Barceló M , ChowLY , ChiuHFet al. Genetic analysis of the CYP2D6 locus in a Hong Kong Chinese population. Clin. Chem.46(1), 18–23 (2000).
   PubMed Web of Science ®Google Scholar
• LLerena A , NaranjoMEG , Rodrigues-SoaresF , Penas-LLedóEM , FariñasH , Tarazona-SantosE. Interethnic variability of CYP2D6 alleles and of predicted and measured metabolic phenotypes across world populations. Expert Opin. Drug Metab. Toxicol.10(11), 1569–1583 (2014).
   PubMed Web of Science ®Google Scholar
• Rowland P , BlaneyFE , SmythMGet al. Crystal structure of human cytochrome P450 2D6. J. Biol. Chem.281(11), 7614–7622 (2006).
   PubMed Web of Science ®Google Scholar
• Oezguen N , KumarS. Analysis of cytochrome P450 conserved sequence motifs between helices E and H: prediction of critical motifs and residues in enzyme functions. J. Drug Metab. Toxicol.2, 110 (2011).
   Google Scholar