ECE2017 Guided Posters Female Reproduction (12 abstracts)
Genetic susceptibility for adrenal hyperandrogenism in polycystic ovary syndrome
Nicoleta Baculescu 1, , Sarah Haydar 3 , Monica Livia Gheorghiu 1, , Serban Radian 1, , Corinne Lautier 3 , Catalina Poiana 1, , Michel Pugeat 4 & Florin Grigorescu 3
1Carol Davila University of Medicine and Pharmacy, Bucharest, Romania; 2C.I. Parhon Institute of Endocrinology, Bucharest, Romania; 3IURC, UMR-204 NUTRIPASS, University of Montpellier, Montpellier, France; 4Fédération d’Endocrinologie, Hopital Neuro-Cardio, University of Lyon, Lyon, France.
Background: Hyperandrogenism is a main feature of the polycystic ovary syndrome (PCOS). Although its ovarian origin is well recognized, laboratory investigation suggested the contribution of adrenal gland, albeit of unknown mechanism.
Aim: To understand the contribution of genetic factors in adrenal hyperandrogenism (AH) we investigated genome wide SNPs in subgroups of PCOS patients stratified as function of DHEAS levels in two ethnic populations (Romanians and French).
Subjects and methods: Patients recruited during European MEDIGENE program (FP7-279171) with PCOS (n=307) of 18–42 years old were stratified in two groups as function of DHEAS level greater than 95th percentiles in age-matched controls. Genotyping was performed with customized MEDISCOPE microarray chip with 759 000 SNP. Influential SNPs were determined by correlation trend (CT) test and then by genetic association in two subgroups of patients.
Results: Despite no difference in total-testosterone levels, in PCOS with AH (n=58, 18.9%) the SHBG (27.6±3.6 vs 44.5±3.3 nmol/L, P< 0.0002) was lower and FAI (14.0±2.2 vs 8.7±0.7, P< 0.002), 2-h insulin in OGTT (111.2±26.0 vs 77.3±6.9 mUI/L, P<0.044) and systolic BP (123.7±4.26 vs 114.4±1.8 mmHg, P<0.045) were higher than in PCOS without AH. SNPs corresponding to at least 15 genes were positive in CT test with DHEAS levels. Among them, INSR and CDH13 were the most significant with numerous SNPs having a P value < 1.0×10-5 after Bonferroni correction. In genetic association by logistic regression between two groups, other genes were also confirmed, the most influential being IL2RA, PTER, SORCS1, LGR4 and KSR2. For instance, LGR4 (Chr 11) was associated with P< 0.005, OR 5.6, 95%CI [1.6–19].
Conclusion: These data indicated that, in PCOS patients, AH may be in part explained by genetic susceptibility. Despite a full array of genes involved, the insulin-resistance appears as potential actor of AH in PCOS.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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