rs2000999 基因变异与中国人 2 型糖尿病患者糖化血红蛋白和糖尿病大血管疾病的相关性。
Association of the genetic variant rs2000999 with haptoglobin and diabetic macrovascular diseases in Chinese patients with type 2 diabetes.
机构信息
Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Clinical Center for Diabetes, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, 600 Yishan Road, Shanghai 200233, People's Republic of China.
Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Clinical Center for Diabetes, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, 600 Yishan Road, Shanghai 200233, People's Republic of China.
出版信息
J Diabetes Complications. 2019 Feb;33(2):178-181. doi: 10.1016/j.jdiacomp.2018.10.006. Epub 2018 Oct 11.
AIMS
The common copy number variant (CNV) in the haptoglobin (Hp) gene may influence the susceptibility to diabetic macrovascular diseases. We aimed to investigate the relationship of the genetic variant rs2000999, located in the haptoglobin-related protein (HPR) gene, with serum Hp levels and diabetic macrovascular diseases in Chinese type 2 diabetes patients.
METHODS
The Hp CNV and rs2000999 were genotyped in a group of 5457 Chinese patients with type 2 diabetes. Associations of rs2000999 with the common Hp CNV, susceptibility to diabetic macrovascular diseases and related metabolic traits were analysed. Furthermore, 886 patients were selected to detect serum Hp levels and to evaluate the correlation between rs2000999 and serum Hp levels.
RESULTS
The genetic variant rs2000999 was not associated with diabetic macrovascular diseases (P = 0.6109), while subjects carrying the A allele had higher levels of low-density lipoprotein cholesterol (P = 0.0578) and a smaller inter-adventitial diameter of the common carotid artery (P = 0.0266). Additionally, rs2000999 exhibited strong association with serum Hp levels (P = 2.03 × 10).
CONCLUSIONS
The genetic variant rs2000999 was not associated with diabetic macrovascular diseases but showed an association with metabolic traits and serum Hp levels in Chinese patients with type 2 diabetes.
目的
触珠蛋白（Hp）基因中的常见拷贝数变异（CNV）可能影响糖尿病大血管疾病的易感性。本研究旨在探讨位于触珠蛋白相关蛋白（HPR）基因内的遗传变异 rs2000999 与中国 2 型糖尿病患者的血清 Hp 水平和糖尿病大血管疾病之间的关系。
方法
对 5457 例中国 2 型糖尿病患者进行 Hp CNV 和 rs2000999 基因分型。分析 rs2000999 与常见 Hp CNV、糖尿病大血管疾病易感性及相关代谢特征的关系。此外，选择 886 例患者检测血清 Hp 水平，并评估 rs2000999 与血清 Hp 水平之间的相关性。
结果
遗传变异 rs2000999 与糖尿病大血管疾病无关（P = 0.6109），但携带 A 等位基因的患者低密度脂蛋白胆固醇水平较高（P = 0.0578），颈总动脉内中膜厚度较小（P = 0.0266）。此外，rs2000999 与血清 Hp 水平有很强的相关性（P = 2.03×10）。
结论
遗传变异 rs2000999 与糖尿病大血管疾病无关，但与中国 2 型糖尿病患者的代谢特征和血清 Hp 水平有关。
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