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CD36 单核苷酸多态性与东北汉族人原发性高血压的相关性研究。

Association study of CD36 single nucleotide polymorphisms with essential hypertension in the Northeastern Han Chinese.

机构信息

Department of Internal Medicine and Cardiology, China-Japan Union Hospital, Norman Bethune College of Medicine, Jilin University, China.

出版信息

Gene. 2013 Sep 15;527(1):410-5. doi: 10.1016/j.gene.2013.05.077. Epub 2013 Jun 18.

DOI:10.1016/j.gene.2013.05.077
PMID:23792019
Abstract

We found that cluster determinant 36 (CD36) gene is up-regulated in essential hypertension (EH) patients in our former research, but the association between CD36 gene variations and EH has not yet been clearly demonstrated. The relationship between CD36 gene single nucleotide polymorphisms (SNPs) and EH in the northeastern Han Chinese was examined in the present study through direct sequencing and genotype-detection. A total of 589 unrelated northeastern Han Chinese including 276 with EH and 313 controls were studied. SNPs in exon 7, exon 13 and intron 4 were detected using PCR-sequencing. The genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) or polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). +216T/C, +273A/G, +132C/T, +217T/C, +212T/G and +233T/C polymorphisms were identified. Distributions of genotypes AA, GA and GG of +273A/G polymorphism were significantly different between EH group and the control group (χ2: 9.056, p=0.011) and G allelic frequency was higher in EH (p=0.006, OR=1.629, 95% CI [1.224-2.168]). Logistic regression analysis showed that +273A/G polymorphism was closely associated with blood pressure (BP) after adjusting for ages. When subclassified by sex, the genotype distribution of +273A/G (p=0.011) and allelic frequency of G allele (p=0.006) were significantly different between EH participants and controls in males, but not in females. Subgroup analysis performed by body mass index (BMI) suggested that the genotype distribution of +273A/G and allelic frequency were significantly different in non-obese group and non-obese men, but the associations were not significant (non-obese group: p=0.016, OR=1.664, 95% CI [1.459-2.409]; non-obese men: p=0.073, OR=1.898, 95% CI [1.033-3.487]). +273A/G polymorphism in CD36 gene was associated with EH, and +273G could be an independent predictor.

摘要

我们之前的研究发现,簇分化抗原 36(CD36)基因在原发性高血压(EH)患者中上调,但 CD36 基因变异与 EH 之间的关系尚未明确。本研究通过直接测序和基因型检测,探讨了 CD36 基因单核苷酸多态性(SNP)与中国东北地区汉族人群 EH 的关系。共研究了 589 例无亲缘关系的东北汉族人,其中 276 例为 EH 患者,313 例为对照组。采用 PCR-测序法检测外显子 7、外显子 13 和内含子 4 的 SNP。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)或聚合酶链反应-单链构象多态性(PCR-SSCP)确定基因型。鉴定出+216T/C、+273A/G、+132C/T、+217T/C、+212T/G 和+233T/C 多态性。EH 组和对照组+273A/G 多态性的 AA、GA 和 GG 基因型分布差异有统计学意义(χ2:9.056,p=0.011),EH 组 G 等位基因频率较高(p=0.006,OR=1.629,95%CI [1.224-2.168])。Logistic 回归分析显示,调整年龄后,+273A/G 多态性与血压(BP)密切相关。按性别亚组分析,EH 组和对照组男性+273A/G 基因型分布(p=0.011)和 G 等位基因频率(p=0.006)差异有统计学意义,而女性差异无统计学意义。按体重指数(BMI)进行亚组分析表明,非肥胖组和非肥胖男性+273A/G 基因型分布和等位基因频率差异有统计学意义,但无统计学意义(非肥胖组:p=0.016,OR=1.664,95%CI [1.459-2.409];非肥胖男性:p=0.073,OR=1.898,95%CI [1.033-3.487])。CD36 基因+273A/G 多态性与 EH 相关,+273G 可能是独立的预测因子。

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