کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2817969 1160021 2012 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
The R453Q and D151A polymorphisms of Hexose-6-Phosphate Dehydrogenase Gene (H6PD) influence the polycystic ovary syndrome (PCOS) and obesity
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
The R453Q and D151A polymorphisms of Hexose-6-Phosphate Dehydrogenase Gene (H6PD) influence the polycystic ovary syndrome (PCOS) and obesity
چکیده انگلیسی

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 < 0.0001) retained free testosterone (OR = 1.13; 95% CI: 1.10–1.17) and H6PD Q453 alleles (OR = 0.46; 95% CI: 0.27–0.79) as statistically significant predictors for PCOS, whereas homeostasis model assessment of insulin resistance and the H6PD D151A variant were excluded by the model. Both H6PD variants were associated with several phenotypic variables, including fasting insulin, homeostasis model assessment of insulin resistance and androstenedione levels. In summary, the R453Q and D151A variants of the H6PD gene are associated with PCOS and obesity, respectively, and may contribute to the PCOS phenotype by influencing obesity, insulin resistance and hyperandrogenism.


► Hexose-6-phosphate dehydrogenase influences peripheral cortisol metabolism.
► Hexose-6-phosphate dehydrogenase is encoded by H6PD.
► Q alleles of the R453Q variant in H6PD protect against PCOS.
► A alleles of the D151A variant in H6PD are associated with obesity.
► H6PD R453Q and D151A variants influence insulin resistance and hyperandrogenism.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 497, Issue 1, 10 April 2012, Pages 38–44
نویسندگان
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