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LDLR基因rs1433099与中国汉族人群非酒精性脂肪性肝病及心血管疾病风险的关联

Association of LDLR rs1433099 with the Risk of NAFLD and CVD in Chinese Han Population.

作者信息

Han Yi, Zhang Yongshuo, Liu Shousheng, Chen Guangxia, Cao Linlin, Xin Yongning

机构信息

Department of Infectious Disease, Qingdao Municipal Hospital, Qingdao, Shandong, China.

Department of Gastroenterology, The First People's Hospital of Xuzhou, Xuzhou Municipal Hospital Affiliated to Xuzhou Medical University, Xuzhou, Jiangsu, China.

出版信息

J Clin Transl Hepatol. 2021 Apr 28;9(2):203-209. doi: 10.14218/JCTH.2020.00163. Epub 2021 Mar 11.

Abstract

BACKGROUND AND AIMS

Recent genome-wide association studies have shown that low-density lipoprotein receptor (LDLR) rs1433099 polymorphism is associated with cardiovascular disease (CVD) risk in many countries. However, the association of LDLR rs1433099 with CVD in China has not been reported yet. There are no studies on LDLR rs1433099 and non-alcoholic fatty liver disease (NAFLD) as well. The purpose of this study was to investigate whether LDLR rs1433099 is related to CVD or NAFLD in the Chinese population.

METHODS

LDLR rs1433099 polymorphism was genotyped in 507 individuals, including 140 healthy controls, 79 NAFLD patients, 185 CVD patients, and 103 patients with NAFLD combined with CVD. The expression of LDLR was tested by the sequence detection system, and clinical parameters were assessed by biochemical tests and physical examination.

RESULTS

The genotype distribution of LDLR rs1433099 was not statistically different among the NAFLD group, the CVD group, the combined group, and the healthy control group (>0.05). There was no significant correlation of LDLR rs1433099 genotypic distribution or allele frequency and the risk of NAFLD, CVD or NAFLD combined with CVD (>0.05). In the CVD group, T allele carriers had higher alkaline phosphatase and gamma-glutamyl transpeptidase than non-carriers (<0.05).

CONCLUSIONS

Our study demonstrated that the LDLR rs1433099 polymorphism is not a risk factor of NAFLD. The LDLR rs1433099 polymorphism may increase the risk of CVD through a mechanism involving alkaline phosphatase and gamma-glutamyl transpeptidase.

摘要

背景与目的

近期全基因组关联研究表明,低密度脂蛋白受体(LDLR)rs1433099多态性在许多国家与心血管疾病(CVD)风险相关。然而,LDLR rs1433099与中国人群CVD的关联尚未见报道。也没有关于LDLR rs1433099与非酒精性脂肪性肝病(NAFLD)的研究。本研究的目的是调查LDLR rs1433099在中国人群中是否与CVD或NAFLD相关。

方法

对507名个体进行LDLR rs1433099多态性基因分型,包括140名健康对照者、79名NAFLD患者、185名CVD患者和103名合并CVD的NAFLD患者。采用序列检测系统检测LDLR的表达,并通过生化检测和体格检查评估临床参数。

结果

NAFLD组、CVD组、合并组和健康对照组中LDLR rs1433099的基因型分布无统计学差异(>0.05)。LDLR rs1433099基因型分布或等位基因频率与NAFLD、CVD或合并CVD的风险无显著相关性(>0.05)。在CVD组中,T等位基因携带者的碱性磷酸酶和γ-谷氨酰转肽酶水平高于非携带者(<0.05)。

结论

我们的研究表明,LDLR rs1433099多态性不是NAFLD的危险因素。LDLR rs1433099多态性可能通过涉及碱性磷酸酶和γ-谷氨酰转肽酶的机制增加CVD风险。

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