先前鉴定的影响端粒长度的基因座与汉族人群冠心病（CHD）的关联。
Association between previously identified loci affecting telomere length and coronary heart disease (CHD) in Han Chinese population.
机构信息
Department of Pulmonary Medicine, The Affiliated Yixing People's Hospital, Jiangsu University, Zhenjiang, Jiangsu Province, People's Republic of China.
Department of Cardiology, Affiliated Cixi Hospital, Wenzhou Medical University, Wenzhou, Zhejiang Province, People's Republic of China.
出版信息
Clin Interv Aging. 2014 May 27;9:857-61. doi: 10.2147/CIA.S60760. eCollection 2014.
PURPOSE
To replicate previously confirmed telomere-length loci in a Chinese Han population with coronary heart disease (CHD), and investigate these loci and the possibility of and age at onset of CHD.
PATIENTS AND METHODS
1514 CHD patients and 2470 normal controls were recruited. Medical data including age, sex, body mass index, lipid profiles, history of hypertension, type 2 diabetes mellitus, and dyslipidemia were collected from all the participants. Seven previously identified single-nucleotide polymorphisms (SNPs) related to leucocyte telomere length were genotyped, including rs10936599 in TERC, rs2736100 in TERT, rs7675998 in NAF1, rs9420907 in OBFC1, rs8105767 in ZNF208, rs755017 in RTEL1, and rs11125529 in ACYP2.
RESULTS
No significant difference in genotype frequencies from the Hardy-Weinberg equilibrium test was noted for all tested SNPs both in the CHD patients and the normal controls. No polymorphism was observed for rs9420907, and AA genotype was noted in both the CHD patients and the controls. Neither the genotype nor the allele frequencies of rs2736100, rs8105767, rs11125529, and rs2967374 were significantly different between the CHD patients and the normal controls. For rs10936599 and rs755017, statistical difference was found for the allele frequency but not genotype. Distributions of genotype and allele were significantly different between the two groups for rs7675998. The odds ratio for carriers of CHD was 2.127 (95% confidence interval: 1.909-2.370) for the A allele of rs7675998. By one-way analysis of variance test, rs7675998 was associated with the onset age of CHD. CHD patients with the AA genotype of rs7675998 had significantly lower onset age (P<0.05).
CONCLUSION
In a Chinese Han population, NAF1 gene encoding proteins with known function in telomere biology may influence both the possibility of and the age at onset of CHD, as previously reported in European studies.
目的
在冠心病（CHD）的汉族人群中复制先前已确认的端粒长度基因座，并研究这些基因座和 CHD 的发病年龄的可能性。
方法
纳入 1514 例 CHD 患者和 2470 例正常对照。从所有参与者中收集包括年龄、性别、体重指数、血脂谱、高血压史、2 型糖尿病和血脂异常在内的医学数据。对先前与白细胞端粒长度相关的 7 个单核苷酸多态性（SNP）rs10936599（TERC 中的）、rs2736100（TERT 中的）、rs7675998（NAF1 中的）、rs9420907（OBFC1 中的）、rs8105767（ZNF208 中的）、rs755017（RTEL1 中的）和 rs11125529（ACYP2 中的）进行基因分型。
结果
在 CHD 患者和正常对照组中，所有检测到的 SNP 的基因型频率均未偏离 Hardy-Weinberg 平衡检验。未观察到 rs9420907 的多态性，AA 基因型在 CHD 患者和对照组中均存在。rs2736100、rs8105767、rs11125529 和 rs2967374 的基因型和等位基因频率在 CHD 患者和正常对照组之间均无显著差异。rs10936599 和 rs755017 的等位基因频率存在统计学差异，但基因型无差异。rs7675998 的基因型和等位基因分布在两组之间存在显著差异。rs7675998 的 A 等位基因携带者患 CHD 的比值比为 2.127（95%置信区间：1.909-2.370）。通过单因素方差分析，rs7675998 与 CHD 的发病年龄相关。rs7675998 的 AA 基因型的 CHD 患者发病年龄明显更低（P<0.05）。
结论
在汉族人群中，先前在欧洲研究中报道的 NAF1 基因编码在端粒生物学中具有已知功能的蛋白质，可能会影响 CHD 的发病可能性和发病年龄。
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