Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
16126772
TITLE
Association between polymorphisms in the progesterone receptor gene and endometriosis.
ABSTRACT
The progesterone receptor (PR) is a candidate gene for the development of endometriosis, a complex disease with strong hormonal features, common in women of reproductive age. We typed the 306 base pair Alu insertion (AluIns) polymorphism in intron G of PR in 101 individuals, estimated linkage disequilibrium (LD) between five single-nucleotide polymorphisms (SNPs) across the PR locus in 980 Australian triads (endometriosis case and two parents) and used transmission disequilibrium testing (TDT) for association with endometriosis. The five SNPs showed strong pairwise LD, and the AluIns was highly correlated with proximal SNPs rs1042839 (delta2 = 0.877, D9 = 1.00, P < 0.0001) and rs500760 (delta2 = 0.438, D9 = 0.942, P < 0.0001). TDT showed weak evidence of allelic association between endometriosis and rs500760 (P = 0.027) but not in the expected direction. We identified a common susceptibility haplotype GGGCA across the five SNPs (P = 0.0167) in the whole sample, but likelihood ratio testing of haplotype transmission and non-transmission of the AluIns and flanking SNPs showed no significant pattern. Further, analysis of our results pooled with those from two previous studies suggested that neither the T2 allele of the AluIns nor the T1/T2 genotype was associated with endometriosis.
DATE PUBLISHED
2005 Sep
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2005/08/26
pubmed 2005/08/30 09:00
medline 2007/03/23 09:00
entrez 2005/08/30 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Treloar SA Treloar Susan A SA Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Queensland, Australia. sue.treloar@qimr.edu.au
Zhao ZZ Zhao Zhen Zhen ZZ
Armitage T Armitage Trudi T
Duffy DL Duffy David L DL
Wicks J Wicks Jacqueline J
O'Connor DT O'Connor Daniel T DT
Martin NG Martin Nicholas G NG
Montgomery GW Montgomery Grant W GW
INVESTIGATORS
JOURNAL
VOLUME: 11
ISSUE: 9
TITLE: Molecular human reproduction
ISOABBREVIATION: Mol. Hum. Reprod.
YEAR: 2005
MONTH: Sep
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 1360-9947
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Mol Hum Reprod
COUNTRY: England
ISSNLINKING: 1360-9947
NLMUNIQUEID: 9513710
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adolescent
Adult
Endometriosis genetics
Female genetics
Haplotypes genetics
Humans genetics
Linkage Disequilibrium genetics
Middle Aged genetics
Pedigree genetics
Polymorphism, Single Nucleotide genetics
Receptors, Progesterone genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Receptors, Progesterone
OTHER ID's