Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias

Journal of Human Genetics

Volumn 57, Issue 7, 2012, Pages 434-441

  Qin, Xian Yang ^a,b   Kojima, Yoshiyuki ^c   Mizuno, Kentaro ^c   Ueoka, Katsuhiko ^d   Massart, Francesco ^e   Spinelli, Claudio ^e   Zaha, Hiroko ^a   Okura, Masahiro ^a   Yoshinaga, Jun ^b   Yonemoto, Junzo ^a   Kohri, Kenjiro ^c   Hayashi, Yutaro ^c   Ogata, Tsutomu ^f,g   Sone, Hideko ^a  

^a NATIONAL INSTITUTE FOR ENVIRONMENTAL STUDIES   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

^d National Center for Child Health and Development   (Japan)

^e UNIVERSITY OF PISA   (Italy)

^f NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^g HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

cryptorchidism; cytochrome P450; endocrine disruptor; hypospadias; multifactor dimensionality reduction; nuclear receptor; SNP

Indexed keywords

ENDOCRINE DISRUPTOR;

ACCURACY; ADOLESCENT; AHR GENE; AHRR GENE; ALLELE; ARNT 2 GENE; ARNT GENE; ARTICLE; CHILD; CONTROLLED STUDY; CRYPTORCHISM; CYP 17A1 GENE; CYP 19A1 GENE; CYP 1A1 GENE; CYP 1A2 GENE; CYP 1B1 GENE; CYP 2B6 GENE; CYP 3A4 GENE; GENE; GENE FUNCTION; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HUMAN; HYPOSPADIAS; JAPANESE; MAJOR CLINICAL STUDY; MALE; NR1/2 GENE; NUCLEOTIDE SEQUENCE; PREDICTION; REPRODUCTIVE TOXICITY; RISK ASSESSMENT; RXRA DOG; RXRB GENE; RXRG GENE; SINGLE NUCLEOTIDE POLYMORPHISM; XENOBIOTIC METABOLISM;

ADOLESCENT; ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR; ASIAN CONTINENTAL ANCESTRY GROUP; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CRYPTORCHIDISM; CYTOCHROME P-450 CYP1A2; ENDOCRINE DISRUPTORS; ESTROGEN RECEPTOR ALPHA; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; GENE-ENVIRONMENT INTERACTION; GENETICS, POPULATION; HUMANS; HYPOSPADIAS; INFANT; ITALY; JAPAN; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; STEROID 17-ALPHA-HYDROXYLASE;

EID: 84864356271     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.48     Document Type: Article

References (43)

1. Vidaeff, A.C. & Sever, L.E. In utero exposure to environmental estrogens and male reproductive health: a systematic review of biological and epidemiologic evidence. Reprod. Toxicol. 20, 5-20 (2005). (Pubitemid 40459646)
2. Martin, O.V., Shialis, T., Lester, J.N., Scrimshaw, M.D., Boobis, A.R. & Voulvoulis, N. Testicular dysgenesis syndrome and the estrogen hypothesis: a quantitative metaanalysis. Environ. Health. Perspect. 116, 149-157 (2008). (Pubitemid 351356719)
3. Carbone, P., Giordano, F., Nori, F., Mantovani, A., Taruscio, D., Lauria, L. et al. The possible role of endocrine disrupting chemicals in the aetiology of cryptorchidism and hypospadias: a population-based case-control study in rural Sicily. Int. J. Androl. 30, 3-13 (2007). (Pubitemid 46161035)
4. Fernandez, M.F., Olmos, B., Granada, A., Lopez-Espinosa, M.J., Molina-Molina, J.M., Fernandez, J.M. et al. Human exposure to endocrine-disrupting chemicals and prenatal risk factors for cryptorchidism and hypospadias: a nested case-control study. Environ. Health. Perspect. 115(Suppl 1), 8-14 (2007).
5. Morales-Suarez-Varela, M.M., Toft, G.V., Jensen, M.S., Ramlau-Hansen, C., Kaerlev, L., Thulstrup, A.M. et al. Parental occupational exposure to endocrine disrupting chemicals and male genital malformations: a study in the danish national birth cohort study. Environ. Health 10, 3 (2011).
6. Sasaki, G., Ogata, T., Ishii, T., Kosaki, K., Sato, S., Homma, K. et al. Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients. J. Clin. Endocrinol. Metab. 88, 3431-3436 (2003). (Pubitemid 36877525)
7. Watanabe, M., Yoshida, R., Ueoka, K., Aoki, K., Sasagawa, I., Hasegawa, T. et al. Haplotype analysis of the estrogen receptor 1 gene in male genital and reproductive abnormalities. Hum. Reprod. 22, 1279-1284 (2007). (Pubitemid 47062796)
8. Willingham, E. & Baskin, L.S. Candidate genes and their response to environmental agents in the etiology of hypospadias. Nat. Clin. Pract. Urol. 4, 270-279 (2007). (Pubitemid 46745488)
9. Foresta, C., Zuccarello, D., Garolla, A. & Ferlin, A. Role of hormones, genes, and environment in human cryptorchidism. Endocr. Rev. 29, 560-580 (2008).
10. Kojima, Y., Mizuno, K., Kohri, K. & Hayashi, Y. Advances in molecular genetics of cryptorchidism. Urology 74, 571-578 (2009).
11. Kojima, Y., Kohri, K. & Hayashi, Y. Genetic pathway of external genitalia formation and molecular etiology of hypospadias. J. Pediatr. Urol. 6, 346-354 (2010).
12. van der Zanden, L.F., van Rooij, I.A., Feitz, W.F., Vermeulen, S.H., Kiemeney, L.A., Knoers, N.V. et al. Genetics of hypospadias: are single-nucleotide polymorphisms in SRD5A2, ESR1, ESR2, and ATF3 really associated with the malformation? J. Clin. Endocrinol. Metab. 95, 2384-2390 (2010).
13. Kurahashi, N., Sata, F., Kasai, S., Shibata, T., Moriya, K., Yamada, H. et al. Maternal genetic polymorphisms in CYP1A1, GSTM1 and GSTT1 and the risk of hypospadias. Mol. Hum. Reprod. 11, 93-98 (2005). (Pubitemid 40331289)
14. Johansson, I. & Ingelman-Sundberg, M. Genetic polymorphism and toxicology-with emphasis on cytochrome p450. Toxicol. Sci. 120, 1-13 (2011).
15. Ban, S., Sata, F., Kurahashi, N., Kasai, S., Moriya, K., Kakizaki, H. et al. Genetic polymorphisms of ESR1 and ESR2 that may influence estrogen activity and the risk of hypospadias. Hum. Reprod. 23, 1466-1471 (2008). (Pubitemid 351770580)
16. Waxman, D.J. P450 gene induction by structurally diverse xenochemicals: central role of nuclear receptors CAR, PXR, and PPAR. Arch. Biochem. Biophys. 369, 11-23 (1999). (Pubitemid 29434534)
17. Harper, P.A., Wong, J.Y., Lam, M.S. & Okey, A.B. Polymorphisms in the human AH receptor. Chem. Biol. Interact. 141, 161-187 (2002). (Pubitemid 35223210)
18. Sato, H., Ishida, S., Toda, K., Matsuda, R., Hayashi, Y., Shigetaka, M. et al. New approaches to mechanism analysis for drug discovery using DNA microarray data combined with KeyMolnet. Curr. Drug Discov. Technol. 2, 89-98 (2005). (Pubitemid 40943979)
19. Ritchie, M.D., Hahn, L.W., Roodi, N., Bailey, L.R., Dupont, W.D., Parl, F.F. et al. Multifactor-dimensionality reduction reveals high-order interactions among estrogenmetabolism genes in sporadic breast cancer. Am. J. Hum. Genet. 69, 138-147 (2001). (Pubitemid 32614026)
20. Lou, X.Y., Chen, G.B., Yan, L., Ma, J.Z., Zhu, J., Elston, R.C. et al. A generalized combinatorial approach for detecting gene-by-gene and gene-by-environment interactions with application to nicotine dependence. Am. J. Hum. Genet. 80, 1125-1137 (2007). (Pubitemid 47579348)
21. Binh, T.Q., Nakahori, Y., Hien, V.T., Khan, N.C., Lam, N.T., Mai le, B. et al. Correlations between genetic variance and adiposity measures, and gene-gene interactions for obesity in postmenopausal Vietnamese women. J. Genet. 90, 1-9 (2011).
22. Sanderson, J.T. The steroid hormone biosynthesis pathway as a target for endocrinedisrupting chemicals. Toxicol. Sci. 94, 3-21 (2006). (Pubitemid 44542325)
23. Hirose, K., Morita, M., Ema, M., Mimura, J., Hamada, H., Fujii, H. et al. cDNA cloning and tissue-specific expression of a novel basic helix-loop-helix/PAS factor (Arnt2) with close sequence similarity to the aryl hydrocarbon receptor nuclear translocator (Arnt). Mol. Cell. Biol. 16, 1706-1713 (1996).
24. Sekine, H., Mimura, J., Yamamoto, M. & Fujii-Kuriyama, Y. Unique and overlapping transcriptional roles of arylhydrocarbon receptor nuclear translocator (Arnt) and Arnt2 in xenobiotic and hypoxic responses. J. Biol. Chem. 281, 37507-37516 (2006). (Pubitemid 46042054)
25. Hankinson, O. Why does ARNT2 behave differently from ARNT? Toxicol. Sci. 103, 1-3 (2008).
26. Hill, A.J., Heiden, T.C., Heideman, W. & Peterson, R.E. Potential roles of Arnt2 in zebrafish larval development. Zebrafish 6, 79-91 (2009).
27. Barrow, L.L., Wines, M.E., Romitti, P.A., Holdener, B.C. & Murray, J.C. Aryl hydrocarbon receptor nuclear translocator 2 (ARNT2): structure, gene mapping, polymorphisms, and candidate evaluation for human orofacial clefts. Teratology 66, 85-90 (2002). (Pubitemid 34810624)
28. Skakkebaek, N.E., Rajpert-De Meyts, E. & Main, K.M. Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects. Hum. Reprod. 16, 972-978 (2001). (Pubitemid 32451837)
29. Jorgensen, N., Meyts, E.R., Main, K.M. & Skakkebaek, N.E. Testicular dysgenesis syndrome comprises some but not all cases of hypospadias and impaired spermatogenesis. Int. J. Androl. 33, 298-303 (2010).
30. Yoshimura, K., Hanaoka, T., Ohnami, S., Kohno, T., Liu, Y., Yoshida, T. et al. Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer: data from population-based Japanese random samples. J. Hum. Genet. 48, 654-658 (2003). (Pubitemid 38031310)
31. Ikeda, S., Sasazuki, S., Natsukawa, S., Shaura, K., Koizumi, Y., Kasuga, Y. et al. Screening of 214 single nucleotide polymorphisms in 44 candidate cancer susceptibility genes: a case-control study on gastric and colorectal cancers in the Japanese population. Am. J. Gastroenterol. 103, 1476-1487 (2008). (Pubitemid 351813910)
32. Sharp, L., Cardy, A.H., Cotton, S.C. & Little, J. CYP17 gene polymorphisms: prevalence and associations with hormone levels and related factors. a HuGE review. Am. J. Epidemiol. 160, 729-740 (2004). (Pubitemid 39362210)
33. Chen, Y., Gammon, M.D., Teitelbaum, S.L., Britton, J.A., Terry, M.B., Shantakumar, S. et al. Estrogen-biosynthesis gene CYP17 and its interactions with reproductive, hormonal and lifestyle factors in breast cancer risk: results from the Long Island Breast Cancer Study Project. Carcinogenesis 29, 766-771 (2008). (Pubitemid 351494164)
34. Wang, J.F. & Chou, K.C. Molecular modeling of cytochrome P450 and drug metabolism. Curr. Drug. Metab. 11, 342-346 (2010).
35. Wright, J.L., Kwon, E.M., Lin, D.W., Kolb, S., Koopmeiners, J.S., Feng, Z. et al. CYP17 polymorphisms and prostate cancer outcomes. Prostate 70, 1094-1101 (2010).
36. Holmes, N.M., Miller, W.L. & Baskin, L.S. Lack of defects in androgen production in children with hypospadias. J. Clin. Endocrinol. Metab. 89, 2811-2816 (2004). (Pubitemid 38766370)
37. Low, Y.L., Dunning, A.M., Dowsett, M., Folkerd, E., Doody, D., Taylor, J. et al. Phytoestrogen exposure is associated with circulating sex hormone levels in postmenopausal women and interact with ESR1 and NR1I2 gene variants. Cancer Epidemiol. Biomarkers Prev. 16, 1009-1016 (2007). (Pubitemid 46910105)
38. Long, J.R., Egan, K.M., Dunning, L., Shu, X.O., Cai, Q., Cai, H. et al. Population-based case-control study of AhR (aryl hydrocarbon receptor) and CYP1A2 polymorphisms and breast cancer risk. Pharmacogenet. Genomics 16, 237-243 (2006).
39. Wang, H., Yamamoto, J.F., Caberto, C., Saltzman, B., Decker, R., Vogt, T.M. et al. Genetic variation in the bioactivation pathway for polycyclic hydrocarbons and heterocyclic amines in relation to risk of colorectal neoplasia. Carcinogenesis 32, 203-209 (2011).
40. Clemons, M. & Goss, P. Estrogen and the risk of breast cancer. N. Engl. J. Med. 344, 276-285 (2001). (Pubitemid 32108534)
41. Syme, M.R., Paxton, J.W. & Keelan, J.A. Drug transfer and metabolism by the human placenta. Clin. Pharmacokinet. 43, 487-514 (2004). (Pubitemid 38858303)
42. Yoshida, R., Fukami, M., Sasagawa, I., Hasegawa, T., Kamatani, N. & Ogata, T. Association of cryptorchidism with a specific haplotype of the estrogen receptor alpha gene: implication for the susceptibility to estrogenic environmental endocrine disruptors. J. Clin. Endocrinol. Metab. 90, 4716-4721 (2005). (Pubitemid 41159363)
43. Galan, J.J., Guarducci, E., Nuti, F., Gonzalez, A., Ruiz, M., Ruiz, A. et al. Molecular analysis of estrogen receptor alpha gene AGATA haplotype and SNP12 in European populations: potential protective effect for cryptorchidism and lack of association with male infertility. Hum. Reprod. 22, 444-449 (2007).(Pubitemid 46152566)