关键词: 胆固醇调节元件结合蛋白质2, 多态现象, 遗传, 肥胖症, 血脂异常, 儿童

Abstract: Objective：To study the relationship between rs2228314 polymorphism in sterol regulatory element binding protein 2 gene (SREBP2) and obesity, serum lipid levels in children and adolescents. Methods: In our study, 2 030 children and adolescents aged from 7 to 18 years participated. Anthropometric measurements, including height and weight, were performed. Their serum total cholesterol (TC), triglyceride (TG), low-density lipoprotein cholesterol (LDL-C) and high-density lipoprotein cholesterol (HDL-C) were detected. The matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) was used to detect rs2228314 genotypes. Results: The GC/CC genotypes of rs2228314 polymorphisms had lower HDL-C levels than GG genotype ［(0.10±0.35) mmol/L vs. (0.14±0.36) mmol/L, P=0.020］. The rs2228314 polymorphism was associated with the abnormal HDL-C level under the dominant model after adjustment for study samples, sex and age (OR=1.400, 95% CI: 1.027-1.907, P=0.033). The rs2228314 polymorphism was not associated with obesity under the dominant model after adjustment for study samples, sex, age and HDLC level (OR=1.178，95% CI: 0.971-1.430, P=0.096). Conclusion: The GC/CC genotype carriers of SREBP2 rs2228314 polymorphism have higher risk of abnormal HDL-C level than the individuals with GG genotype among children and adolescents.

Key words: Sterol regulatory element binding protein 2, Polymorphism, genetic, Obesity, Dyslipidemias, Child