Capuano Melissa M, Sorkin John D, Chang Yen-Pei C, Ling Hua, O'Connell Jeffrey R, Rothman Paul B, Mitchell Braxton D, Silver Kristi D
BMC Res Notes. 2013 Jun 15;6:235. doi: 10.1186/1756-0500-6-235.
SOCS7 is a member of the suppressor of cytokine signaling family of proteins and is expressed in skeletal muscle and islets. SOCS7 deficient mice develop islet hyperplasia in the setting of increased insulin sensitivity and normal glucose tolerance. The objective of this study was to determine if variants in SOCS7 play a role in variation of glucose and insulin levels and the development of type 2 diabetes (T2DM).
Five SOCS7 tagging SNPs were genotyped in diabetic and nondiabetic Old Order Amish. A case-control study was performed in T2DM (n = 145) and normal glucose tolerant (n = 358) subjects. Nominal associations were observed with T2DM and the minor alleles for rs8068600 (P = 0.01) and rs8074124 (P = 0.04); however, only rs8068600 remained significant after Bonferroni adjustment for multiple comparisons (P = 0.01). Among nondiabetic Amish (n = 765), no significant associations with glucose or insulin traits including fasting or 2 hour glucose and insulin from the oral glucose tolerance test, insulin or glucose area under the curve, Matsuda Index or HOMA-IR were found for any of the SNPs.
In conclusion, genetic variants in the SOCS7 gene do not impact variation in glucose homeostasis traits and only minimally impact risk of T2DM in the Old Order Amish. Our study was not able to address whether rare variants that potentially impact gene function might influence T2DM risk.
细胞因子信号转导抑制因子7（SOCS7）是细胞因子信号转导抑制蛋白家族的成员，在骨骼肌和胰岛中表达。SOCS7基因缺陷小鼠在胰岛素敏感性增加和葡萄糖耐量正常的情况下会出现胰岛增生。本研究的目的是确定SOCS7基因变异是否在血糖和胰岛素水平变化以及2型糖尿病（T2DM）的发生发展中起作用。
在患有糖尿病和未患糖尿病的老派阿米什人中对5个SOCS7标签单核苷酸多态性（SNP）进行了基因分型。在T2DM患者（n = 145）和葡萄糖耐量正常的受试者（n = 358）中进行了病例对照研究。观察到T2DM与rs8068600（P = 0.01）和rs8074124（P = 0.04）的次要等位基因存在名义上的关联；然而，在进行多重比较的Bonferroni校正后，只有rs8068600仍然具有显著性（P = 0.01）。在非糖尿病阿米什人（n = 765）中，未发现任何SNP与血糖或胰岛素特征有显著关联，这些特征包括口服葡萄糖耐量试验中的空腹或2小时血糖和胰岛素、胰岛素或葡萄糖曲线下面积、松田指数或稳态模型评估的胰岛素抵抗（HOMA-IR）。
总之，SOCS7基因的遗传变异不会影响葡萄糖稳态特征的变异，并且对老派阿米什人中T2DM的风险影响极小。我们的研究无法确定潜在影响基因功能的罕见变异是否会影响T2DM风险。
