Analysis of five single nucleotide polymorphisms in the ESR1 gene in cryptorchidism

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 82, Issue 6, 2008, Pages 482-485

  Wang, Yanping ^a,c   Barthold, Julia ^b   Figueroa, Ernesto ^b   González, Ricardo ^b   Noh, Paul H ^b,d   Wang, Miao ^c   Manson, Jeanne ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Cryptorchidism; ESR1 gene; Haplotype; SNP

Indexed keywords

ESTROGEN RECEPTOR ALPHA;

ARTICLE; CONTROLLED STUDY; CRYPTORCHISM; ESR1 GENE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CRYPTORCHIDISM; ESTROGEN RECEPTOR ALPHA; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; SEVERITY OF ILLNESS INDEX;

EID: 46449087358     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.20458     Document Type: Article

References (10)

1. Emmen JM, McLuskey A, Adham IM, et al. 2000. Hormonal control of gubernaculum development during testis descent: gubernaculum out-growth in vitro requires both insulin-like factor and androgen. Endocrinology 141:4720-4727.
2. Galan JJ, Guarducci E, Nuti F, et al. 2007. 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.
3. Hutson JM, Hasthorpe S, Heyns CF. 1997. Anatomical and functional aspects of testicular descent and cryptorchidism. Endocr Rev 18:259-280.
4. McLachlan JA. 2001. Environmental signaling: what embryos and evolution teach us about endocrine disrupting chemicals. Endocr Rev 22:319-341.
5. O'Donnell L, Robertson KM, Jones ME, et al. 2001. Estrogen and spermatogenesis. Endocr Rev 22:289-318.
6. Purcell S, Neale B, Todd-Brown K, et al. 2007. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:559-575
7. Smith EP, Boyd J, Frank GR, et al. 1994. Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. N Engl J Med 331:1056-1061.
8. Thonneau PF, Gandia P, Mieusset R. 2003. Cryptorchidism: incidence, risk factors, and potential role of environment; an update. J Androl 24:155-162.
9. Vidaeff AC, Sever LE. 2005. In utero exposure to environmental estrogens and male reproductive health: a systematic review of biological and epidemiologic evidence. Reprod Toxicol 20:5-20.
10. Yoshida R, Fukami M, Sasagawa I, et al. 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.