GALNT2 Gene Variant rs4846914 Is Associated with Insulin and Insulin Resistance Depending on BMI in PCOS Patients: a Cas
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GENETICS: ORIGINAL ARTICLE
GALNT2 Gene Variant rs4846914 Is Associated with Insulin and Insulin Resistance Depending on BMI in PCOS Patients: a Case-Control Study Jinxin Chen 1 & Linbo Guan 1 & Hongwei Liu 2 & Qingqing Liu 1 & Ping Fan 1 & Huai Bai 1 Received: 9 May 2020 / Accepted: 30 October 2020 # Society for Reproductive Investigation 2020
Abstract GALNT2 is a GalNAc transferase that regulates insulin signaling, lipogenesis, and serum lipid fractions. The objective of this study was to investigate the association of GALNT2 rs2144300 and rs4846914 single nucleotide polymorphisms (SNPs) with the risk of polycystic ovary syndrome (PCOS) and related traits. The two SNPs were genotyped in 616 PCOS patients and 482 control subjects. Genetic associations with related traits were also analyzed. The genotype distributions of the two SNPs in PCOS patients were similar to those of normal controls. However, significant differences were noted across the three groups of genotypes with respect to the examined variables. In the PCOS group, subjects with genotype AA at the rs4846914 SNP exhibited an increased fasting serum insulin and homeostasis model insulin resistance (HOMA-IR) index compared with that of corresponding GG or GA genotype carriers (all P < 0.05). When PCOS patients were further separated into obese and nonobese subgroups, the genotype-related effects on insulin and HOMA-IR were more obvious, and variations in BMI and FSH levels were exclusively observed in obese PCOS subjects (all P < 0.05). In addition, fasting plasma glucose levels were affected by the genotypes of the rs2144300 SNP in normal control women (P < 0.05). rs4846914 and rs2144300 polymorphisms in the GALNT2 gene are associated with insulin and HOMA-IR, BMI, and FSH levels in obese PCOS patients and glucose levels in normal control women, respectively, but not with PCOS. GALNT2 rs4846914 AA carrier status may be associated with insulin resistance and related traits in obese patients. Keywords GALNT2 gene . Polymorphism (SNP) . PCOS . Obesity . Insulin resistance
Introduction Polycystic ovary syndrome (PCOS) affects women’s health worldwide, with a prevalence of approximately 6–15% in premenopausal women [1, 2]. Typical features of PCOS include * Ping Fan [email protected] * Huai Bai [email protected] 1
Laboratory of Genetic Disease and Perinatal Medicine and Key Laboratory of Birth Defects and Related Diseases of Women and Children of the Ministry of Education, West China Second University Hospital, Sichuan University, No.20, Section 3, South People’s Road, Chengdu 610041, Sichuan, People’s Republic of China
2
Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan, People’s Republic of China
gonadotropin ratio distortion, chronic anovulation and subsequent irregular menstrual cycles, insulin resistance, elevated androgen levels, and polycystic ovary morphology in ultrasound imaging [3]. Insulin resistance, obesity, and dyslipidemia are common in PCOS and may contribu
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