Abstract | OBJECTIVE: DESIGN: Case-control, family-based association and quantitative-trait analyses. PATIENTS: A UK case sample comprising 256 nuclear families ascertained from a PCOS offspring and 213 singleton PCOS cases plus 549 control subjects. MEASUREMENTS: All subjects were genotyped for CRD-related variants in HSD11B1 (rs12086634) and H6PD (rs6688832). Testosterone was measured with an in-house radioimmunoassay using ether extraction and dextran-coated charcoal separation. RESULTS: Case-control analyses revealed no differences in genotype distribution between PCOS and controls for rs12086634 or rs6688832 (both P = 0.84). Three per cent of cases and 2.4% of controls had genotype combinations (three or more variant alleles at the two sites) considered characteristic of CRD (P = 0.73). There were no departures from expectation in the family-based association studies, and no significant associations between genotypes (individually or in combination) and BMI, WHR or testosterone. CONCLUSIONS: The variants in HSD11B1 and H6PD typed, though implicated in causation of CRD, do not influence susceptibility to PCOS. It seems likely that additional variants within these genes are required for the development of CRD.
|
Authors | Nicole Draper, Brenda L Powell, Steve Franks, Gerard S Conway, Paul M Stewart, Mark I McCarthy |
Journal | Clinical endocrinology
(Clin Endocrinol (Oxf))
Vol. 65
Issue 1
Pg. 64-70
(Jul 2006)
ISSN: 0300-0664 [Print] England |
PMID | 16817821
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
|
Chemical References |
- Carbohydrate Dehydrogenases
- galactose-6-phosphate dehydrogenase
- 11-beta-Hydroxysteroid Dehydrogenase Type 1
- Cortisone Reductase
|
Topics |
- 11-beta-Hydroxysteroid Dehydrogenase Type 1
(genetics)
- Adult
- Carbohydrate Dehydrogenases
(genetics)
- Case-Control Studies
- Chi-Square Distribution
- Cortisone Reductase
(deficiency, genetics)
- Female
- Gene Frequency
- Genetic Predisposition to Disease
- Genotype
- Humans
- Polycystic Ovary Syndrome
(enzymology, genetics)
- Quantitative Trait, Heritable
|