140
Views
0
CrossRef citations to date
0
Altmetric
Research Article

Functional Diversity of the Glutathione Peroxidase Gene Family Among Human Populations: Implications for Genetic Predisposition to Disease and Drug Response

, , &
Pages 1037-1045 | Published online: 09 Jul 2013

References

  • Polimanti R , PiacentiniS, FuciarelliM. HapMap-based study of human soluble glutathione S-transferase enzymes: the role of natural selection in shaping the single nucleotide polymorphism diversity of xenobiotic-metabolizing genes. Pharmacogenet. Genomics21(10) , 665–672 (2011).
  • Polimanti R , PiacentiniS, ManfellottoD, FuciarelliM. Human genetic variation of CYP450 superfamily: analysis of functional diversity in worldwide populations. Pharmacogenomics13(16) , 1951–1960 (2012).
  • International Hapmap 3 Consortium, Altshuler DM, Gibbs RA et al. Integrating common and rare genetic variation in diverse human populations. Nature467(7311) , 52–58 (2010).
  • Li JZ , AbsherDM, TangH et al. Worldwide human relationships inferred from genome-wide patterns of variation. Science 319(5866) , 1100–1104 (2008).
  • 1000 Genomes Project Consortium, Abecasis GR, Altshuler D et al. A map of human genome variation from population-scale sequencing. Nature467(7319) , 1061–1073 (2010).
  • Doss CG . In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B. J. Biomed. Sci.19 , 30 (2012).
  • Thomas JH . Rapid birth-death evolution specific to xenobiotic cytochrome P450 genes in vertebrates. PLoS Genet.3(5) , e67 (2007).
  • Fuselli S , de Filippo C, Mona S et al. Evolution of detoxifying systems: the role of environment and population history in shaping genetic diversity at human CYP2D6 locus. Pharmacogenet. Genomics20(8) , 485–499 (2010).
  • Tomalik-Scharte D , LazarA, FuhrU, KirchheinerJ. The clinical role of genetic polymorphisms in drug-metabolizing enzymes. Pharmacogenomics J.8(1) , 4–15 (2008).
  • Bolt HM , HengstlerJG. A new series of review articles on drug metabolizing enzymes: nomenclature of isoenzyme families, genetic organization, polymorphisms, substrate specificities, clinical relevance and role in carcinogenesis. Arch. Toxicol.82(7) , 413–414 (2008).
  • Brigelius-Flohe R , MaiorinoM. Glutathione peroxidases. Biochim. Biophys. Acta1830(5) , 3289–3303 (2012).
  • Lubos E , LoscalzoJ, HandyDE. Glutathione peroxidase-1 in health and disease: from molecular mechanisms to therapeutic opportunities. Antioxid. Redox Signal.15(7) , 1957–1997 (2011).
  • Yuzhalin AE , KutikhinAG. Inherited variations in the SOD and GPX gene families and cancer risk. Free Radic. Res.46(5) , 581–599 (2012).
  • Ferguson LR , KarunasingheN, ZhuS, WangAH. Selenium and its‘ role in the maintenance of genomic stability. Mutat. Res.733(1–2) , 100–110 (2012).
  • Iida R , TsubotaE, YuasaI, TakeshitaH, YasudaT. Simultaneous genotyping of 11 non-synonymous SNPs in the 4 glutathione peroxidase genes using the multiplex single base extension method. Clin. Chim. Acta402(1–2) , 79–82 (2009).
  • Takata Y , KingIB, LampeJW et al. Genetic variation in GPX1 is associated with GPX1 activity in a comprehensive analysis of genetic variations in selenoenzyme genes and their activity and oxidative stress in humans. J. Nutr. 142(3) , 419–426 (2012).
  • Nowak-Gottl U , FiedlerB, HugeA et al. Plasma glutathione peroxidase in pediatric stroke families. J. Thromb. Haemost. 9(1) , 33–38 (2011).
  • Vieira SM , MonteiroMB, MarquesT et al. Association of genetic variants in the promoter region of genes encoding p22phox (CYBA) and glutamate cysteine ligase catalytic subunit (GCLC) and renal disease in patients with type 1 diabetes mellitus. BMC Med. Genet. 12 , 129 (2011).
  • Steinbrecher A , MeplanC, HeskethJ et al. Effects of selenium status and polymorphisms in selenoprotein genes on prostate cancer risk in a prospective study of European men. Cancer Epidemiol. Biomarkers Prev. 19(11) , 2958–2968 (2010).
  • Polonikov AV , VialykhEK, ChurnosovMI et al. The C718T polymorphism in the 3´-untranslated region of glutathione peroxidase-4 gene is a predictor of cerebral stroke in patients with essential hypertension. Hypertens. Res. 35(5) , 507–512 (2012).
  • Li Y , SunZ, CunninghamJM et al. Genetic variations in multiple drug action pathways and survival in advanced stage non-small cell lung cancer treated with chemotherapy. Clin. Cancer Res. 17(11) , 3830–3840 (2011).
  • Chowdhury S , HobbsCA, MacLeodSL et al. Associations between maternal genotypes and metabolites implicated in congenital heart defects. Mol. Genet. Metab. 107(3) , 596–604 (2012).
  • Kim JC , LeeHC, ChoDH et al. Genome-wide identification of possible methylation markers chemosensitive to targeted regimens in colorectal cancers. J. Cancer Res. Clin. Oncol. 137(10) , 1571–1580 (2011).
  • Maitland ML , GrimsleyC, Kuttab-BoulosH et al. Comparative genomics analysis of human sequence variation in the UGT1A gene cluster. Pharmacogenomics J. 6(1) , 52–62 (2006).
  • 1000 Genomes Project Consortium, Abecasis GR, Auton A et al. An integrated map of genetic variation from 1,092 human genomes. Nature491(7422) , 56–65 (2012).
  • Davydov EV , GoodeDL, SirotaM, CooperGM, SidowA, BatzoglouS. Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput. Biol.6(12) , e1001025 (2010).
  • Adzhubei IA , SchmidtS, PeshkinL et al. A method and server for predicting damaging missense mutations. Nat. Methods 7(4) , 248–249 (2010).
  • Kumar P , HenikoffS, NgPC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc.4(7) , 1073–1081 (2009).
  • Thomas PD , KejariwalA. Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects. Proc. Natl Acad. Sci. USA101(43) , 15398–15403 (2004).
  • Brunham LR , SingarajaRR, PapeTD, KejariwalA, ThomasPD, HaydenMR. Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene. PLoS Genet.1(6) , e83 (2005).
  • Grillo G , TuriA, LicciulliF et al. UTRdb and UTRsite (RELEASE 2010): a collection of sequences and regulatory motifs of the untranslated regions of eukaryotic mRNAs. Nucleic Acids Res. 38(Database issue) , D75–D80 (2010).
  • Excoffier L , LischerHE. Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows. Mol. Ecol. Resour.10(3) , 564–567 (2010).
  • Hofer T , RayN, WegmannD, ExcoffierL. Large allele frequency differences between human continental groups are more likely to have occurred by drift during range expansions than by selection. Ann. Hum. Genet.73(1) , 95–108 (2009).
  • Voight BF , KudaravalliS, WenX, PritchardJK. A map of recent positive selection in the human genome. PLoS Biol.4(3) , e72 (2006).
  • Matise TC , ChenF, ChenW et al. A second-generation combined linkage physical map of the human genome. Genome Res. 17(12) , 1783–1786 (2007).
  • Marian AJ . Molecular genetic studies of complex phenotypes. Transl. Res.159(2) , 64–79 (2012).
  • Squitti R , PolimantiR. Copper hypothesis in the missing hereditability of sporadic Alzheimer‘s disease: ATP7B gene as potential harbor of rare variants. J. Alzheimers Dis.29(3) , 493–501 (2012).
  • Nelson MR , WegmannD, EhmMG et al. An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science 337(6090) , 100–104 (2012).
  • Ingram CJ , RagaTO, TarekegnA et al. Multiple rare variants as a cause of a common phenotype: several different lactase persistence associated alleles in a single ethnic group. J. Mol. Evol. 69(6) , 579–588 (2009).
  • Lee Y , GamazonER, RebmanE et al. Variants affecting exon skipping contribute to complex traits. PLoS Genet. 8(10) , e1002998 (2012).
  • Foster CB , AswathK, ChanockSJ, McKayHF, PetersU. Polymorphism analysis of six selenoprotein genes: support for a selective sweep at the glutathione peroxidase 1 locus (3p21) in Asian populations. BMC Genet.7 , 56 (2006).
  • Suo C , XuH, KhorCC et al. Natural positive selection and north–south genetic diversity in east Asia. Eur. J. Human Genet. 20(1) , 102–110 (2012).
  • Najafi M , GhasemiH, RoustazadehA, AlipoorB. Phenotype and genotype relationship of glutathione peroxidase1 (GPx1) and rs 1800668 variant: the homozygote effect on kinetic parameters. Gene505(1) , 19–22 (2012).
  • Thorn CF , OshiroC, MarshS et al. Doxorubicin pathways: pharmacodynamics and adverse effects. Pharmacogenet. Genomics 21(7) , 440–446 (2011).
  • Chen B , RaoX, HouseMG, NephewKP, CullenKJ, GuoZ. GPx3 promoter hypermethylation is a frequent event in human cancer and is associated with tumorigenesis and chemotherapy response. Cancer Lett.309(1) , 37–45 (2011).
  • Takebe G , YarimizuJ, SaitoY et al. A comparative study on the hydroperoxide and thiol specificity of the glutathione peroxidase family and selenoprotein P. J. Biol. Chem. 277(43) , 41254–41258 (2002).
  • Maiorino M , UrsiniF, BoselloV et al. The thioredoxin specificity of Drosophila GPx: a paradigm for a peroxiredoxin-like mechanism of many glutathione peroxidases. J. Mol. Biol. 365(4) , 1033–1046 (2007).
  • Olson GE , WhitinJC, HillKE et al. Extracellular glutathione peroxidase (Gpx3) binds specifically to basement membranes of mouse renal cortex tubule cells. Am. J. Physiol. Renal. Physiol. 298(5) , F1244–F1253 (2010).
  • Jin RC , MahoneyCE, Coleman Anderson L et al. Glutathione peroxidase-3 deficiency promotes platelet-dependent thrombosis in vivo. Circulation123(18) , 1963–1973 (2011).

▪ Websites

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.