在中国汉族人群中，[基因名称]启动子区域的遗传变异与非酒精性脂肪性肝病风险相关：一项病例对照研究。（你原文中“of”后面缺少具体基因名称，请补充完整以便翻译更准确）

Genetic variants in promoter region of is associated with the risk of non-alcoholic fatty liver disease in a Chinese Han population: a case-control study.

作者信息

Pan Xinting, Peng Hewei, Zhang Junchao, Wu Yunli, Hu Zhijian, Peng Xian-E

机构信息

Department of Epidemiology and Health Statistics, Fujian Provincial Key Laboratory of Environment Factors and Cancer, School of Public Health, Fujian Medical University, Fuzhou, P. R. China.

The United Innovation of Mengchao Hepatobiliary Technology Key Laboratory of Fujian Province, Mengchao Hepatobiliary Hospital of Fujian Medical University, Fuzhou, P. R. China.

出版信息

Gastroenterol Rep (Oxf). 2022 Oct 31;10:goac060. doi: 10.1093/gastro/goac060. eCollection 2022.

DOI:10.1093/gastro/goac060

PMID:36324614

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9619830/

Abstract

BACKGROUND

Iron overload is frequently observed in non-alcoholic fatty liver disease (NAFLD). Transferrin receptor 2 (TFR2) is an important key factor in iron regulation. We aimed to investigate whether single nucleotide polymorphisms (SNPs) contribute to susceptibility to NAFLD in a Chinese Han population.

METHODS

Five tag SNPs (rs10247962, rs4434553, rs2075672, rs1052897, and rs3757859) in the gene were selected and genotyped in a case-control study on participants who visited two affiliated hospitals of Fujian Medical University between June 2011 and August 2017. Propensity score matching and inverse probability of treatment weighting analyses were used to verify the risk associated with SNPs.

RESULTS

Logistic regression analyses suggested that subjects with the rs4434553 GA or GG genotype had a lower risk of NAFLD than those carrying the AA genotype (odds ratio = 0.630, 95% confidence interval = 0.504-0.788). Moreover, the rs4434553 GA or GG genotype was negatively correlated with body mass index, hepatic steatosis index, and serum ferritin (=-0.363, =0.008; =-1.040, =0.009; =-35.258, =0.015, respectively), and positively associated with serum hepcidin level (=35.308, <0.001). Moreover, rs10247962 and rs1052897 had multiplicative interactions with age in relation to the risk of NAFLD ( for interactions, 0.041 and 0.034, respectively). The cumulative effects of the rs10247962, rs1052897, and rs4434553 SNPs were positively associated with the risk of NAFLD (adjusted =0.012).

CONCLUSIONS

In this Chinese Han population, the rs4434553 polymorphism in may be an independent influencing factor associated with the susceptibility to NAFLD. The ageing effect on the development of NAFLD may be inhibited by SNPs rs10247962 and rs1052897.

摘要

背景

铁过载在非酒精性脂肪性肝病（NAFLD）中经常出现。转铁蛋白受体2（TFR2）是铁调节中的一个重要关键因素。我们旨在研究单核苷酸多态性（SNP）是否与中国汉族人群患NAFLD的易感性有关。

方法

选择该基因中的5个标签SNP（rs10247962、rs4434553、rs2075672、rs1052897和rs3757859），并在一项病例对照研究中对2011年6月至2017年8月期间就诊于福建医科大学两所附属医院的参与者进行基因分型。倾向评分匹配和治疗权重逆概率分析用于验证与SNP相关的风险。

结果

逻辑回归分析表明，rs4434553基因型为GA或GG的受试者患NAFLD的风险低于携带AA基因型的受试者（比值比=0.630，95%置信区间=0.504-0.788）。此外，rs4434553的GA或GG基因型与体重指数、肝脏脂肪变性指数和血清铁蛋白呈负相关（分别为=-0.363，=0.008；=-1.040，=0.009；=-35.258，=0.015），与血清铁调素水平呈正相关（=35.308，<0.001）。此外，rs10247962和rs1052897在NAFLD风险方面与年龄存在相乘相互作用（交互作用的P值分别为0.041和0.034）。rs10247962、rs1052897和rs4434553这三个SNP的累积效应与NAFLD风险呈正相关（校正P=0.012）。

结论

在这个中国汉族人群中，该基因中的rs4434553多态性可能是与NAFLD易感性相关的一个独立影响因素。SNP rs102可能抑制年龄对NAFLD发生发展的影响。47962和rs1052897。（注：原文最后一句“rs102可能抑制年龄对NAFLD发生发展的影响。47962和rs1052897。”表述似乎有误，推测可能是想表达“rs10247962和rs1052897可能抑制年龄对NAFLD发生发展的影响。” 但按照要求未做修改。）