The R453Q and D151A polymorphisms of Hexose-6-Phosphate Dehydrogenase Gene (H6PD) influence the polycystic ovary syndrome (PCOS) and obesity

Hexose-6-phosphate dehydrogenase (H6PDH) influences 11β-hydroxysteroid dehydrogenase activity, a key enzyme in the peripheral metabolism of cortisol that modulates insulin sensitivity in adipose tissue. To study the associations of R453Q and D151A polymorphisms in the H6PDH gene (H6PD) with polycyst...

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Bibliographic Details
Published in:Gene 2012-04, Vol.497 (1), p.38-44
Main Authors: Martínez-García, M.A., San-Millán, J.L., Escobar-Morreale, H.F.
Format: Article
Language:English
Subjects:
adipose tissue
Adrenal androgens
Adult
alleles
Androgen excess
androstenedione
animal ovaries
Carbohydrate Dehydrogenases - genetics
cortisol
fasting
Female
Genotype
homeostasis
Humans
hyperandrogenism
Hyperandrogenism - genetics
insulin
Insulin resistance
Insulin Resistance - genetics
Metabolism
obesity
Obesity - genetics
patients
phenotype
polycystic ovary syndrome
Polycystic Ovary Syndrome - genetics
Polymorphism, Genetic
regression analysis
testosterone
women
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Summary:Hexose-6-phosphate dehydrogenase (H6PDH) influences 11β-hydroxysteroid dehydrogenase activity, a key enzyme in the peripheral metabolism of cortisol that modulates insulin sensitivity in adipose tissue. To study the associations of R453Q and D151A polymorphisms in the H6PDH gene (H6PD) with polycystic ovary syndrome (PCOS) and their influence on clinical and metabolic variables, we genotyped 237 patients with PCOS and 135 control women for the R453Q (rs6688832) and D151A (rs34603401) variants in H6PD. The R453Q genotypes were distributed differently in patients and controls (χ2=9.55, P=0.002). Genotypes of D151A were distributed evenly in women with PCOS and controls, but showed a different distribution in non-obese and obese women (χ2=3.95, P=0.047), especially within the PCOS subgroup (χ2=4.65, P=0.031). A backward stepwise likelihood ratio logistic regression model (Nagelkerke's R2=0.490; χ2=164; P
ISSN:0378-1119
1879-0038
DOI:10.1016/j.gene.2012.01.047