Dataset Information

Genetic variation in the sex hormone metabolic pathway and endometriosis risk: an evaluation of candidate genes.

ABSTRACT:

Objective

To evaluate the relationship between common genetic variation in genes involved in the biosynthesis and signaling of estrogen and progesterone and endometriosis risk.

Design

Genetic polymorphism analysis.

Setting

Population-based case-control study conducted in Group Health Cooperative enrollees in western Washington.

Patient(s)

Women with newly diagnosed, surgically confirmed endometriosis between 1996 and 2001 (n = 256) and age- and reference year-matched female control subjects without a history of endometriosis (n = 567).

Interventions(s)

None.

Main outcome measure(s)

We evaluated the relationship between common genetic variation and endometriosis risk, using gene-based tests and single-variant analysis of genetic polymorphisms in ESR1, ESR2, PGR, CYP17A1, CYP19A1, HSD17B1, HSD17B2, CYP1A1, CYP1A2, COMT, and GSTM1.

Result(s)

The most consistent gene-based association with endometriosis risk was for CYP19A1. We did not find evidence for consistent significant associations between previously reported candidate SNPs in sex hormone-related genes and endometriosis risk.

Conclusion(s)

In summary, we report increased endometriosis risk with CYP19A1 gene-based tests; replication of the association between endometriosis and this gene or gene region is necessary in a larger study population.

SUBMITTER: Trabert B

PROVIDER: S-EPMC3228888 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature

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Publications

Genetic variation in the sex hormone metabolic pathway and endometriosis risk: an evaluation of candidate genes.

Trabert Britton B Schwartz Stephen M SM Peters Ulrike U De Roos Anneclaire J AJ Chen Chu C Scholes Delia D Holt Victoria L VL

Fertility and sterility 20110928 6

<h4>Objective</h4>To evaluate the relationship between common genetic variation in genes involved in the biosynthesis and signaling of estrogen and progesterone and endometriosis risk.<h4>Design</h4>Genetic polymorphism analysis.<h4>Setting</h4>Population-based case-control study conducted in Group Health Cooperative enrollees in western Washington.<h4>Patient(s)</h4>Women with newly diagnosed, surgically confirmed endometriosis between 1996 and 2001 (n = 256) and age- and reference year-matched ...[more]

PMID: 21958689

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Project description:BackgroundThe role of chromosomal arrangements in adaptation is supported by the repeatable clinal variation in inversion frequencies across continents in colonizing species such as Drosophila subobscura. However, there is a lack of knowledge on the genetic variation in genes within inversions, possibly targets of climatic selection, across a geographic latitudinal gradient. In the present study we analysed four candidate loci for thermal adaptation, located close to the breakpoints, in two chromosomal arrangements of the sex (A) chromosome of Drosophila subobscura with different thermal preferences. Individual chromosomes with A2 (the inverted arrangement considered warm adapted) or AST (the standard ancestral arrangement considered cold adapted) were sequenced across four European localities at varying latitudes, up to ~ 2500 Kms apart.ResultsImportantly, we found very low differentiation for each specific arrangement across populations as well as no clinal patterns of genomic variation. This suggests wide gene exchange along the cline. Differentiation between the sex chromosome arrangements was significant in the two more proximal regions relative to the AST orientation but not in the distal ones, independently of their location inside or outside the inversion. This can be possibly due to variation in the levels of gene flux and/or selection acting in these regions.ConclusionsGene flow appears to have homogenized the genetic content within-arrangement at a wide geographical scale, despite the expected diverse selective pressures in the specific natural environments of the different populations sampled. It is thus likely that the inversion frequency clines in this species are being maintained by local adaptation in face of gene flow. The differences between arrangements at non-coding regions might be associated with the previously observed differential gene expression in different thermal regimes. Higher resolution genomic scans for individual chromosomal arrangements performed over a large environmental gradient are needed to find the targets of selection and further elucidate the adaptive mechanisms maintaining chromosomal inversion polymorphisms.

Dataset Information

Genetic variation in the sex hormone metabolic pathway and endometriosis risk: an evaluation of candidate genes.

Objective

Design

Setting

Patient(s)

Interventions(s)

Main outcome measure(s)

Result(s)

Conclusion(s)

Publications

Genetic variation in the sex hormone metabolic pathway and endometriosis risk: an evaluation of candidate genes.

Similar Datasets

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