Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2015) 37 EP211 | DOI: 10.1530/endoabs.37.EP211

ECE2015 Eposter Presentations Reproduction, endocrine disruptors and signalling (92 abstracts)

Association between Apa-I polymorphism in the vitamin D receptor gene and metabolic syndrome in polycystic ovary syndrome

Betânia R Santos 1, & Poli Mara Spritzer 1,


1Gynecological Endocrinology Unit, Division of Endocrinology, Hospital de Clinicas de Porto Alegre, Porto Alegre/RS, Brazil; 2Federal University of Rio Grande do sul, Porto Alegre/RS, Brazil.


Women with polycystic ovary syndrome (PCOS) have higher prevalence of metabolic disturbances such as changes in lipid profile, diabetes, hypertension and metabolic syndrome. Variants on vitamin D receptor (VDR) gene have also been related to metabolic comorbidities in general population. Therefore, the aim of the present study was to investigate whether Apa-I polymorphism (rs7974232) in the VDR gene is associated with metabolic syndrome and endocrine profile in PCOS. In this cross-sectional study 190 PCOS (Rotterdam criteria) and 100 non-hirsute and ovulatory control women were enrolled. Endocrine and clinical measurements were assessed and genotypic analyses were evaluated by real time PCR. PCOS women were younger (22.9±6.7 vs 25.2±7.7 years; P=0.013) and had significantly higher BMI (29.7±6.4 vs 27.0±6.1 kg/m2; P=0.001), total testosterone (0.90±0.40 vs 0.54±0.17 ng/ml; P<0.001) and fasting insulin (16.87 (9.81–26.97) vs 11.09 (7.34–15.44); P<001). Metabolic syndrome was present in 26.5% of PCOS and in 4.8% of controls. The genotypic distribution for Apa-I SNP in PCOS (AA: 32.1%%, AC: 46.3%, CC: 21.6%) and controls (AA: 36.0%%, AC: 48.0%, CC: 16.0%) was similar. PCOS participants with the CC genotype (CC vs CA+AA) of Apa-I had higher risk for metabolic syndrome (OR: 2.133; 95% CI 1.020–4.464, P=0.042). While the analyses among control participants showed that metabolic syndrome is more frequent in CC that CA+AA genotype (13.3% vs 2.9%), no significance was found, (OR: 5.154; 95% CI 0.665–39.954, P=0.145), maybe because of the low prevalence of metabolic syndrome in this group. The CC genotype was also associated with higher systolic blood pressure (P=0.009), total cholesterol (P=0.040) and LDL (P=0.038) in both PCOS and control groups (ANOVA two-way). In conclusion, the present results suggest that variant Apa-I in VDR gene may be associated with metabolic syndrome in women with PCOS.

Disclosure: This work was supported by grant from CNPq INCT 573747/2008-3, Brazil.

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