CHEMERIN GENE VARIANTS ASSOCIATION WITH METABOLIC PARAMETERS IN WOMEN WITH POLYCYSTIC OVARY SYNDROME

PAUTASSO MC; ALICIA BEATRIZ MOTTA; MARIELA VELAZQUEZ; ANDREA MILLAN; GLORIA CERRONE; MAILEN ROJO; GISELLE ADRIANA ABRUZZESE

Buenos Aires

Congreso; LXV Reunión Anual de la Sociedad Argentina de Investigación Clínica.; 2020

Objective: To evaluate Chemerin gene (RARRES2) SNVs rs4721 and rs17173608 association with clinical and biochemical characteristics, also with the metabolic and androgenic condition in women with Polycystic Ovary syndrome (PCOS). Materials and methods: We analyzed 107 women with PCOS according to the Rotterdam criteria (17-38 years). PCOS were divided into subgroups by the presence or absence of metabolic syndrome (MS) and hyperandrogenism (HA). Peripheral blood genomic DNA was purified and genotyped by T-ARMS PCR (Tetraamplification refractory mutation system for rs 17173608 (RARRES2 NC_000007.14(NM_002889.4):c.280-494A>C) and PCR-RFLP for rs4721 (RARRES2 NM_002889.4):c.*13A>C). Statistical analyzes were performed with GraphPad Prism and SPSS (t-Student test, ANCOVA with p-values adjusted for age and χ2 analysis). Results: The PCOS patients showed a genotype distribution of TT genotype (44.9%), followed by TG genotype (43%) and GG (12.1%) for the rs4721; similar to the frequency found in Caucasians (HapMapProject). The population was in Hardy Weinberg equilibrium (x2 = 0.147; p = 0.70). The rs17173608 could not be analyzed because of the low presence of the minor allele (4%). Through ANCOVA analysis age adjusted, it was shown that the presence of rs4721 G allele was associated with higher levels of total cholesterol/HDL (p=0.04), LDL-c (p=0,02) triglycerides (p=0.03), insulin (p=0.02), HOMA (p=0.04), LAP index (Lipid accumulation product, p=0.03), testosterone (p= 0.08), LH/FSH (p=0.03). Also, rs4721 G allele was associated with larger telomere length (p=0.04) and lesser mitochondrial DNA mass (p=0.08). Conclusion: In women with PCOS, rs4721G allele was associated with worse metabolic and hormonal parameters. In this preliminary study, no association was found between SNV rs4721 Chemerin gene and susceptibility to MS and HA in women with PCOS.