Department of Endocrinology, Nanjing General Hospital of Nanjing Military Command, Nanjing 210002, China.
J Endocrinol Invest. 2010 Jul-Aug;33(7):483-8. doi: 10.1007/BF03346629. Epub 2010 Jan 22.
Protein tyrosine phosphatase (PTP)- 1B, encoded by the PTPN1 gene, negatively regulates insulin signaling by dephosphorylating the phosphotyrosine residues of the insulin receptor kinase activation segment. Several rare single nucleotide polymorphisms (SNP) have been linked to diseases accompanying insulin resistance such as Type 2 diabetes, obesity, and dyslipidemia in different populations.
To investigate whether PTP-1B SNP are associated with hypertension and hypertension-related metabolic traits in Chinese subjects.
A total of 239 Chinese patients with hypertension and 141 non-hypertensive subjects were screened. The genotypes of PTP-1B gene polymorphisms were determined by PCR-restriction fragment length polymorphism methods.
The case-control study showed associations between the frequencies of T allelic g54281 T>A and A allele of I5/37C>A and hypertension (p<0.0001, p=0.0371, respectively). In addition, significant associations were observed between the IVS6+G82A polymorphism and waist circumference, total cholesterol, and LDL-cholesterol levels in hypertensive patients (p=0.0005 approximately 0.0260). And g54281 T allele was associated with higher plasma triglyceride (p=0.0390) and LDL-cholesterol concentration (p=0.0141), while g58585 T>C was associated with body mass index (BMI) (p=0.0308), waist circumference (p=0.0216), and homeostasis model assessment of insulin resistance (p=0.047). Multivariate logistic regression analysis showed that T allele carriers of g54281T>A and A allele carriers of I5/37C>A had higher risks of hypertension independent of age, gender, BMI, glucose levels, and lipids profiles [odds ratio (OR): 1.79, 95% confidence interval (CI): 1.09- 2.96, p=0.02; OR: 1.66, 95% CI: 1.13-2.44, p=0.01, respectively].
PTP-1B polymorphisms contribute to pathogenesis of hypertension in Chinese subjects and PTP-1B SNP may be involved in the development of several features including dyslipidemia and obesity in hypertensive subjects.
蛋白酪氨酸磷酸酶（PTP）-1B，由 PTPN1 基因编码，通过去磷酸化胰岛素受体激酶激活片段的磷酸酪氨酸残基来负调控胰岛素信号。几种罕见的单核苷酸多态性（SNP）与不同人群中的 2 型糖尿病、肥胖症和血脂异常等伴随胰岛素抵抗的疾病相关。
探讨 PTP-1B SNP 是否与中国人群中的高血压及高血压相关代谢特征相关。
共筛选了 239 例高血压患者和 141 例非高血压患者。采用 PCR-限制性片段长度多态性方法检测 PTP-1B 基因多态性的基因型。
病例对照研究显示 T 等位基因 g54281T>A 和 A 等位基因 I5/37C>A 的频率与高血压相关（p<0.0001，p=0.0371）。此外，IVS6+G82A 多态性与高血压患者的腰围、总胆固醇和 LDL-胆固醇水平显著相关（p=0.0005 至 0.0260）。g54281T 等位基因与较高的血浆甘油三酯（p=0.0390）和 LDL-胆固醇浓度（p=0.0141）相关，而 g58585T>C 与体重指数（BMI）（p=0.0308）、腰围（p=0.0216）和胰岛素抵抗评估的稳态模型（p=0.047）相关。多变量 logistic 回归分析显示，g54281T>A 的 T 等位基因携带者和 I5/37C>A 的 A 等位基因携带者发生高血压的风险更高，独立于年龄、性别、BMI、血糖水平和血脂谱[比值比（OR）：1.79，95%置信区间（CI）：1.09-2.96，p=0.02；OR：1.66，95%CI：1.13-2.44，p=0.01]。
PTP-1B 多态性有助于中国人群高血压的发病机制，PTP-1B SNP 可能参与高血压患者血脂异常和肥胖等多种特征的发生。
