Relation of resistin gene variants to resistin plasma levels and altered susceptibility to polycystic ovary syndrome: A case control study

Al-Awadi A.M. Saldhana F.L. Bauyrzhanova Z. Nemr R. Mahmood N.A. Almawi W.Y.
July 2023 John Wiley and Sons Inc

American Journal of Reproductive Immunology
2023 #90 Issue 1

Background: A role for resistin in the pathogenesis of polycystic ovarian syndrome (PCOS) and related features were described for various ethnicities. As its expression is partly inherited, a role for RETN polymorphisms in regulating resistin levels and PCOS risk was shown, but with varied results. Aim: To investigate the association of rs34124816 (–537A>C), rs1862513 (–420C>G), rs3219175 (–358G>A), rs3745367 (+299G>A), rs3745369 (+1263G>C), and rs1423096 (+4965C>T) RETN SNPs with PCOS. Methods: Study subjects included 583 women with PCOS, and 713 eumenorrheic women serving as controls. Genotyping was done by real-time PCR. Results: Higher minor allele frequency (MAF) of rs34124816, rs3219175, and rs3745369, and lower MAF of rs1862513 and rs1423096 were seen in PCOS cases. Reduced PCOS risk was found with rs3745367 minor-allele homozygotes and rs1423096 minor-allele homozygotes, while increased risk was linked with rs3745367 heterozygotes, and with rs3745369 heterozygotes and minor-allele homozygotes. While it did not reach statistical significance, serum resistin levels were elevated in PCOS cases than in control women and major-allele homozygotes of rs34124816 and rs1862513, and in rs1423096 minor-allele-containing carriers. Carriage of rs34124816 correlated positively with age and LH, whereas rs1862513 positively and rs3745367 negatively correlated with fasting glucose. Six-locus (rs34124816-rs1862513-rs3219175-rs3745367-rs3745369-rs1423096) haplotype analysis demonstrated a significant reduction in AGGGGG and a marked increase in AGGGCG haplotypes between cases and controls, thus assigning PCOS protective and susceptible nature to these haplotypes, respectively. Conclusions: This study is the first to document the contribution of rs34124816 and rs1423096 RETN variants to the risk of PCOS. The varied association of RETN gene variants with PCOS suggests an ethnic contribution of RETN association with PCOS.

alleles , genotypes , haplotypes , insulin resistance , polycystic ovary syndrome , resistin

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Department of Pediatrics, College of Medicine, Kuwait University, Kuwait
School of Medicine, Nazarbayev University, Astana, Kazakhstan
School of Medicine, Lebanese American University, Byblos, Lebanon
Department of Obstetrics and Gynecology, Salmaniya Medical Complex, Manama, Bahrain
Faculté des Sciences de Tunis, Université de Tunis El Manar, Tunis, Tunisia

Department of Pediatrics
School of Medicine
School of Medicine
Department of Obstetrics and Gynecology
Faculté des Sciences de Tunis

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