Department of Obstetrics and Gynecology, King Khalid University Hospital, College of Medicine, King Saud University, P.O. Box 60826, Riyadh 11555, Saudi Arabia.
Saudi J Biol Sci. 2014 Dec;21(6):610-5. doi: 10.1016/j.sjbs.2014.07.007. Epub 2014 Aug 2.
Genome-wide association studies have identified loci that are firmly associated with obesity. The Src-homology-2 B adaptor protein 1 (SH2B1) loci is abundantly expressed in the brain, liver, heart, muscle, and fat tissues. Gestational diabetes mellitus (GDM) is a growing health concern that usually appears during the latter half of pregnancy, and it is characterized by carbohydrate intolerance of variable severity. The SH2B1 gene polymorphism has been linked with an increased risk of weight gain in several but not all population studies. This study aimed to investigate the genetic association of rs4788102 variants in the SH2B1 gene with GDM in Saudi pregnant women. Genomic DNA samples from 200 women with GDM and 300 women without GDM were genotyped using the TaqMan method. The distribution of the GG, GA, and AA genotypes was significantly different between GDM and non-GDM women (p < 0.05). Thus, we identified rs4788102 variants as additional risk factors for GDM in Saudi women, and we suggest that these variants may have a prognostic value.
全基因组关联研究已经确定了与肥胖密切相关的基因位点。Src 同源 2B 衔接蛋白 1（SH2B1）基因在大脑、肝脏、心脏、肌肉和脂肪组织中大量表达。妊娠糖尿病（GDM）是一种日益严重的健康问题，通常出现在妊娠后半期，其特征是不同严重程度的碳水化合物不耐受。已有研究表明，SH2B1 基因多态性与一些人群中体重增加的风险增加有关，但并非所有人群的研究均如此。本研究旨在探讨 SH2B1 基因 rs4788102 变异与沙特孕妇 GDM 的遗传相关性。采用 TaqMan 法对 200 例 GDM 妇女和 300 例非 GDM 妇女的基因组 DNA 样本进行基因分型。GDM 组和非 GDM 组之间 GG、GA 和 AA 基因型的分布差异有统计学意义（p<0.05）。因此，我们确定 rs4788102 变异是沙特女性 GDM 的附加危险因素，我们认为这些变异可能具有预后价值。
