title: Common Variation in the CYP17A1 and IFIT1 Genes on Chromosome 10 Does Not Contribute to the Risk of Endometriosis.
abstract: Endometriosis is a complex disease involving multiple susceptibility genes and environmental factors. Our previous studies on endometriosis identified a region of significant linkage on chromosome 10q. Two biological candidate genes (CYP17A1 and IFIT1) located on chromosome 10q, have previously been implicated in endometriosis and/or uterine function. We hypothesized that variation in CYP17A1 and/or IFIT1 could contribute to the risk of endometriosis and may account for some of the linkage signal on chromosome 10q. We genotyped 17 single nucleotide polymorphisms (SNPs) in the CYP17A1 and IFIT1 genes including SNP rs743572 previously associated with endometriosis in 768 endometriosis cases and 768 unrelated controls. We found no evidence for association between endometriosis and individual SNPs or SNP haplotypes in CYP17A1 and IFIT1. Common variation in these genes does not appear to be a major contributor to endometriosis susceptibility in our Australian sample.
authors.affiliation: Molecular Epidemiology, Queensland Institute of Medical Research, Brisbane, Queensland, Australia.
authors.forename: Zhen Zhen
authors.initials: ZZ
authors.lastname: Zhao
authors.forename: Dale R
authors.initials: DR
authors.lastname: Nyholt
authors.forename: Lien
authors.initials: L
authors.lastname: Le
authors.forename: Susan A
authors.initials: SA
authors.lastname: Treloar
authors.forename: Grant W
authors.initials: GW
authors.lastname: Montgomery
references.citation: Fertil Steril. 1997 Nov;68(5):941-2
references.pmid: 9389831
references.citation: Am J Epidemiol. 2007 Feb 1;165(3):235-45
references.pmid: 17110639
references.citation: Mol Cell Endocrinol. 1993 Nov;97(1-2):135-43
references.pmid: 8143896
references.citation: Ann Hum Genet. 2005 Sep;69(Pt 5):566-76
references.pmid: 16138915
references.citation: Biol Reprod. 2006 Feb;74(2):383-94
references.pmid: 16251498
references.citation: Hum Reprod. 2002 Mar;17(3):555-9
references.pmid: 11870102
references.citation: Mol Hum Reprod. 2007 Aug;13(8):587-94
references.pmid: 17563403
references.citation: J Endocrinol. 2004 Jan;180(1):135-44
references.pmid: 14709152
references.citation: Hum Reprod. 2008 Jul;23(7):1661-8
references.pmid: 18285324
references.citation: Hum Reprod. 2002 Apr;17(4):897-902
references.pmid: 11925378
references.citation: J Assist Reprod Genet. 1995 Jan;12(1):32-4
references.pmid: 7580007
references.citation: Bioinformatics. 2005 Jan 15;21(2):263-5
references.pmid: 15297300
references.citation: DNA. 1987 Oct;6(5):439-48
references.pmid: 3500022
references.citation: Cancer Res. 2001 May 15;61(10):3955-60
references.pmid: 11358812
references.citation: Fertil Steril. 1985 Mar;43(3):351-2
references.pmid: 3979573
references.citation: Hum Mol Genet. 1994 Oct;3(10):1873-6
references.pmid: 7849715
references.citation: Fertil Steril. 1999 Apr;71(4):701-10
references.pmid: 10202882
references.citation: J Genet. 2004 Aug;83(2):189-92
references.pmid: 15536258
references.citation: Gynecol Endocrinol. 2007 Jan;23(1):29-33
references.pmid: 17484509
references.citation: Science. 2002 Jun 21;296(5576):2225-9
references.pmid: 12029063
references.citation: Mol Hum Reprod. 2006 Nov;12(11):671-6
references.pmid: 16973828
references.citation: Nucleic Acids Res. 1988 Feb 11;16(3):1215
references.pmid: 3344216
references.citation: Gynecol Endocrinol. 2005 Feb;20(2):59-63
references.pmid: 15823822
references.citation: Am J Hum Genet. 2005 Sep;77(3):365-76
references.pmid: 16080113
references.citation: Obstet Gynecol Clin North Am. 1997 Jun;24(2):235-58
references.pmid: 9163765
references.citation: J Clin Endocrinol Metab. 1990 Apr;70(4):1041-5
references.pmid: 2180973
references.citation: Bioinformatics. 2003 Jan;19(1):149-50
references.pmid: 12499305
references.citation: Gynecol Obstet Invest. 2006;61(2):90-105
references.pmid: 16244490
references.citation: Endocrinology. 2003 Dec;144(12):5203-14
references.pmid: 12960022
references.citation: Fertil Steril. 2005 Mar;83(3):567-72
references.pmid: 15749482