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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 non-obese 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.
摘要：
GALNT2是调节胰岛素信号的GalNAc转移酶，脂肪生成,和血清脂质组分。本研究的目的是探讨GALNT2rs2144300和rs4846914单核苷酸多态性（SNPs）与多囊卵巢综合征（PCOS）风险及相关性状的相关性。在616名PCOS患者和482名对照受试者中对这两个SNP进行了基因分型。还分析了与相关性状的遗传关联。PCOS患者中两种SNP的基因型分布与正常对照组相似。然而,在检测变量方面,三组基因型之间存在显著差异.在PCOS组中,与相应的GG或GA基因型携带者相比，rs4846914SNP具有AA基因型的受试者的空腹血清胰岛素和稳态模型胰岛素抵抗（HOMA-IR）指数增加（均P<0.05）。当PCOS患者进一步分为肥胖和非肥胖亚组时，基因型对胰岛素和HOMA-IR的影响更为明显，BMI和FSH水平的变化仅在肥胖PCOS受试者中观察到（所有P<0.05）。此外,正常对照组女性空腹血糖水平受rs2144300SNP基因型的影响（P<0.05）。GALNT2基因的rs4846914和rs2144300多态性与胰岛素和HOMA-IR,BMI,肥胖PCOS患者的FSH水平和正常对照女性的血糖水平，分别,但不是PCOS。GALNT2rs4846914AA携带者状态可能与肥胖患者的胰岛素抵抗及相关性状相关。
