Haplotype analysis of the estrogen receptor 1 gene in male genital and reproductive abnormalities

Human Reproduction

Volumn 22, Issue 5, 2007, Pages 1279-1284

  Watanabe, Masanori ^a,b   Yoshida, Rie ^a   Ueoka, Katsuhiko ^c   Aoki, Katsuya ^c   Sasagawa, Isoji ^d   Hasegawa, Tomonobu ^b   Sueoka, Kou ^b   Kamatani, Naoyuki ^e   Yoshimura, Yasunori ^b   Ogata, Tsutomu ^a  

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

^b KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^d YAMAGATA UNIVERSITY   (Japan)

^e TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

Environmental endocrine disruptors; Estrogen receptor 1; Haplotype analysis; Susceptibility; Undermasculinization

Indexed keywords

ENDOCRINE DISRUPTOR; ESTROGEN RECEPTOR ALPHA; ESR1 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONFIDENCE INTERVAL; CONTROLLED STUDY; CRYPTORCHISM; ENVIRONMENTAL FACTOR; ESTROGEN ACTIVITY; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HYPOSPADIAS; INFANT; JAPANESE; MAJOR CLINICAL STUDY; MALE; MALE GENITAL SYSTEM DISEASE; MICROPENIS; RECESSIVE GENE; RISK ASSESSMENT; SPERMATOZOON ABNORMALITY; ASIAN; AZOOSPERMIA; CONGENITAL MALFORMATION; GENETICS; JAPAN; MALE INFERTILITY; MIDDLE AGED; NEWBORN; OLIGOSPERMIA; PENIS; PRESCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SPERMATOGENESIS;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; AZOOSPERMIA; CHILD; CHILD, PRESCHOOL; ENDOCRINE DISRUPTORS; ESTROGEN RECEPTOR ALPHA; HAPLOTYPES; HUMANS; HYPOSPADIAS; INFANT; INFANT, NEWBORN; INFERTILITY, MALE; JAPAN; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; OLIGOSPERMIA; PENIS; POLYMORPHISM, SINGLE NUCLEOTIDE; SPERMATOGENESIS;

EID: 34447093955     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/del513     Document Type: Article

References (39)

1. Aschim EL, Giwercman A, Stahl O, Eberhard J, Cwikiel M, Nordenskjold A, Haugen TB, Grotmol T and Giwercman YL (2005) The Rsal polymorphism in the estrogen receptor-beta gene is associated with male infertility. J Clin Endocrinol Metab 90,5343-5348.
2. Beleza-Meireles A, Omrani D, Kockum I, Frisen L, Lagerstedt K and Nordenskjold A (2006) Polymorphisms of estrogen receptor β gene are associated with hypospadias. J Endocrinol Invest 29,5-10.
3. Davidson S (2000) Research suggests importance of haplotypes over SNPs. Nat Biotechnol 18,1134-1135.
4. De La Vega FM, Dailey D, Ziegle J, Williams J, Madden D and Gilbert DA (2002) New generation pharmacogenomic tools: A SNP linkage disequilibrium map, validated SNP assay resource, and high-throughput instrumentation system for large-scale genetic studies. Biotechniques 32,pS48-S54.
5. Dietrich W, Haitel A, Huber JC and Reiter WJ (2004) Expression of estrogen receptors in human corpus cavernosum and male urethra. J Histochem Cytochem 52,355-360.
6. Dowsing AT, Yong EL, Clark M, McLachlan RI, de Kretser DM and Trouson AO (1999) Linkage between male infertility and trinucleotide repeat expansion in the androgen-receptor gene. Lancet 354,640-643.
7. Excoffier L and Slatkin M (1995) Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol 12,921-927.
8. Fujieda K and Matsuura N (1987) Growth and maturation in the male genitalia from birth to adolescene II: Change of penile length. Acta Paediatr Jpn 29,220-223.
9. Grumbach MM, Hughes IA and Conte FA (2002) Disorders of sex differentiation. In Larsen PR, Kronenberg HM, Melmed S and Polonsky KS (eds) Williams Textbook of Endocrinology, 10th edn. , pp. 842-1002.
10. Hammer MF, Karafet TM, Park H, Omoto K, Harihara S, Stoneking M and Horai S (2006) Dual origins of the Japanese: Common ground for hunter-gatherer and farmer Y chromosomes. J Hum Genet 51,47-58.
11. Hutson JM, Hasthorpe S and Heyns CF (1997) Anatomical and functional aspects of testicular descent and cryptorchidism. Endocr Rev 18,259-280.
12. Ishii T, Sato S, Kosaki K, Sasaki G, Muroya K, Ogata T and Matsuo N (2001) Micropenis and the AR gene: Mutation and CAG repeat-length analysis. J Clin Endocrinol Metab 86,5372-5378.
13. Ito T, Inoue E and Kamatani N (2004) Association test algorithm between a qualitative phenotype and a haplotype or haplotype set using simultaneous estimation of haplotype frequencies, diplotype configurations, and diplotype-based penetrances. Genetics 168,2339-2348.
14. Itoh N, Kayama F, Tatsuki J and Tsukamoto T (2001) Have sperm counts deteriorated over the past 20 years in healthy, young Japanese men? Results from the Sapporo area. J Androl 22,40-44.
15. Itoh K, Sasagawa I, Suzuki Y, Ashida J, Nakada T and Ogata T (2002) Mutation screening for the 5α-reductase type 2 gene in Japanese men with idiopathic azoospermia. Fertil Steril 77,1079-1080.
16. Kamatani N, Sekine A, Kitamoto T, Iida A, Saito S, Kogame A, Inoue E, Kawamoto M, Harigai M and Nakamura Y (2004) Large scale single-nucleotide polymorphism (SNP) and haplotype analyses, using dense SNP maps, of 199 drug-related genes in 752 subjects: The analysis of the association between uncommon SNPs within haplotype blocks and the haplotypes constructed with haplotype-tagging SNPs. Am J Hum Genet 75,190-203.
17. Kim KS, Torres CR, Yusel S, Raimondo K, Cunha GR and Baskin LS (2004) Induction of hypospadias in a murine model by maternal exposure to synthetic estrogens. Environ Res 94,267-275.
18. Kishi R, Sata F and Saijo Y (2005) Exposure to endocrine disrupting chemicals and its adverse effects on human health: Current issues in epidemiological approaches. J Natl Inst Public Health 54,7-16 (in Japanese).
19. Kitamura Y, Moriguchi M, Kaneko H, Morisaki H, Morisaki T, Toyama K and Kamatani N (2002) Determination of probability distribution of diplotype configuration (diplotype distribution) for each subject from genotypic data using the EM algorithm. Ann Hum Genet 66,183-193.
20. Klip H, Verloop J, van Gool JD, Koster ME, Burger CW and van Leeuwen FE (2002) Hypospadias in sons of women exposed to diethylstilbestrol in utero: A cohort study. Lancet 359,1102-1107.
21. Kurzrock EA and Karpman E (2004) Hyposapadias: Pathophysiology and etiologic theories. Pediatr Endocrinot Rev 1,288-295.
22. Lim HN, Chen H, McBride S, Dunning AM, Nixon RM, Hughes IA and Hawkins JR (2000) Longer polyglutamine tracts in the androgen receptor are associated with moderate to severe undermasculinized genitalia in XY males. Hum Mol Genet 9,829-834.
23. Magnusdottir EV, Thorsteinsson T, Thorsteinsdottir S, Heimisdottir M and Olafsdottir K (2005) Persistent organochlorines, sedentary occupation, obesity and human male subfertility. Hum Reprod 20,208-215.
24. McLachlan JA (2001) Environmental signaling: What embryos and evolution teach us about endocrine disrupting chemicals. Endocr Rev 22,319-341.
25. Muroya K, Sasagawa I, Suzuki Y, Nakada T, Ishii T and Ogata T (2001) Hypospadias and the androgen receptor gene: Mutation screening and CAG repeat length analysis. Mol Hum Reprod 7,409-413.
26. Nef S, Shipman T and Parada LF (2000) A molecular basis for estrogen-induced cryptorchidism. Dev Biol 224,354-361.
27. O'Donnell L, Robertson KM, Jones ME and Simpson ER (2001) Estrogen and spermatogenesis. Endocr Rev 22,289-318.
28. Sasagawa I, Suzuki Y, Ashida J, Nakada T, Muroya K and Ogata T (2001) CAG repeat length analysis and mutation screening of the androgn receptor gene in Japanese men with idiopathic azoospermia. J Androl 22,804-808.
29. Sasaki G, Ogata T, Ishii T, Kosaki K, Sato S, Homma K, Takahashi T, Hasegawa T and Matsuo N (2003) Micropenis and the 5α-reductase-2 (SRD5A2) gene: Mutation and V89L polymorphism analysis in 81 Japanese patients. J Clin. Endocrinol Metab 88,3431-3436.
30. Shupnik MA (2002) Oestrogen receptors, receptor variants and oestrogen actions in the hypothalamic-pituitary axis. J Neuroendocrinol 14,85-94.
31. Skakkebaek NE, Rajpert-De Meyts E and Main KM (2001) Testicular dysgenesis syndrome: An increasingly common developmental disorder with environmental aspects. Hum Reprod 16,972-978.
32. Stillman RJ (1982) In utero exposure to diethylstilbestrol: Adverse effects on the reproductive tract and reproductive performance and male and female offspring. Am J Obstet Gynecol 142,905-921.
33. Tateno T, Sasagawa I, Ashida J, Nakada T and Ogata T (2000) Absence of Y chromosome microdeletions in patients with isolated hypospadias. Fertil Steril 74,399-400.
34. Terwilliger JD and Ott J (1994) Handbook of Human Genetic Linkage. Johns Hopkins University Press,.
35. Toppari J, Larsen JC, Christiansen P, Giwercman A, Grandjean P, Guillette LJ, Jegou B, Jensen TK, Jouannet P, Keiding N et al. (1996) Male reproductive health and environmental xenoestrogens. Environ Health Perspect 104 (Suppl 4),741-803.
36. Toppari J and Skakkebaek NE (1998) Sex differentiations and environmental endocrine disrupters. Bailliere's Clin Endocrinol Metab 12,143-156.
37. Wilcox AJ, Baird DD, Weinberg CR, Hornsby PP and Herbst AL (1995) Fertility in men exposed prenatally to diethylstilbestrol. N Engl J Med 332,1411-1416.
38. Yoshida R, Fukami M, Sasagawa I, Hasegawa T, Kamatani N and Ogata T (2005) 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.
39. Zhu X, Yan D, Cooper RS, Luke A, Ikeda MA, Chang YP, Weder A and Chakravarti A (2003) Unkage disequilibrium and haplotype diversity in the genes of the renin-angiotensin system: Findings from the family blood pressure program. Genome Res 13,173-181.