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……的基因变异与非酒精性脂肪性肝病的风险筛查相关。 (原文中“of”后缺少具体内容)

Genetic Variations of are Associated with Risk Screening for Non-Alcoholic Fatty Liver Disease.

作者信息

Ding Yajie, Tang Zongzhe, Zhang Ru, Zhang Mengting, Guan Qing, Zhang Liuxin, Wang Hongliang, Chen Yue, Zhang Wei, Wang Jie

机构信息

Department of Fundamental and Community Nursing, School of Nursing, Nanjing Medical University, Nanjing, Jiangsu, People's Republic of China.

The Nethersole School of Nursing, Faculty of Medicine, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong (SAR), People's Republic of China.

出版信息

Risk Manag Healthc Policy. 2023 Jul 26;16:1365-1376. doi: 10.2147/RMHP.S416592. eCollection 2023.

Abstract

PURPOSE

Protein kinase B (PKB/AKT) has shown a high profile in the research of metabolic diseases. This research sought to determine whether the gene's single nucleotide polymorphisms (SNPs) and the risk of developing non-alcoholic fatty liver disease (NAFLD) were related.

PATIENTS AND METHODS

Recruited in this case-control study were 2693 subjects, including 815 with NAFLD and 1878 without NAFLD. Three SNPs of (rs2494732, rs2494752 and rs1130233) were genotyped. To examine the correlation between SNPs and NAFLD susceptibility, logistic regression was performed.

RESULTS

After adjusting for sex, age, triglyceride and glucose, rs2494732-C (all < 0.05 in co-dominant model, dominant model and additive model) and rs2494752-G ( < 0.05 in co-dominant model) were linked to a lower risk of NAFLD. The combined effect of both SNPs on NAFLD risk was statistically significant, showing a dose dependence ( = 0.010). Sex, body mass index, hypertension, hyperglycemia, hypertriglyceridemia, high-density lipoprotein-cholesterol, alanine aminotransferase, and beneficial alleles were all significant predictors of NAFLD risk (all < 0.05). The prediction model achieved good discrimination, with an area under the receiver operating characteristic curve of 0.779. The Hosmer-Lemeshow test suggested an inadequate calibration of the model ( = 21.073, = 0.007).

CONCLUSION

rs2494732 and rs2494752 may be related to Chinese NAFLD susceptibility. The prediction model combining both SNPs with clinical factors displays a strong ability to discriminate NAFLD patients. Both SNPs may be exploited to design new models for early screening of NAFLD high-risk population.

摘要

目的

蛋白激酶B(PKB/AKT)在代谢性疾病研究中备受关注。本研究旨在确定该基因的单核苷酸多态性(SNP)与非酒精性脂肪性肝病(NAFLD)发生风险是否相关。

患者与方法

本病例对照研究纳入了2693名受试者,其中815例患有NAFLD,1878例未患NAFLD。对该基因的三个SNP(rs2494732、rs2494752和rs1130233)进行基因分型。为检验SNP与NAFLD易感性之间的相关性,进行了逻辑回归分析。

结果

在调整性别、年龄、甘油三酯和血糖后,rs2494732-C(共显性模型、显性模型和加性模型中所有P<0.05)和rs2494752-G(共显性模型中P<0.05)与较低的NAFLD风险相关。两个SNP对NAFLD风险的联合作用具有统计学意义,呈剂量依赖性(P=0.010)。性别、体重指数、高血压、高血糖、高甘油三酯血症、高密度脂蛋白胆固醇、丙氨酸氨基转移酶和有益等位基因均为NAFLD风险的显著预测因素(所有P<0.05)。预测模型具有良好的区分能力,受试者工作特征曲线下面积为0.779。Hosmer-Lemeshow检验表明模型校准不足(P=21.073,P=0.007)。

结论

rs2494732和rs2494752可能与中国人群的NAFLD易感性有关。将这两个SNP与临床因素相结合的预测模型具有较强的区分NAFLD患者的能力。这两个SNP均可用于设计新的模型,以早期筛查NAFLD高危人群。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5737/10387243/111b73c9b83b/RMHP-16-1365-g0001.jpg

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