该基因中的常见变异与中国汉族人群的血清尿酸水平、高尿酸血症及痛风相关。

Common variants in the gene are associated with serum uric acid level and hyperuricemia and gout in Han Chinese.

作者信息

Zhou Zhaowei, Li Zhiqiang, Wang Can, Li Xinde, Cheng Xiaoyu, Li Changgui, Shi Yongyong

机构信息

1Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiaric Disorders (Ministry of Education), Shanghai Jiao Tong University, No. 1954 Huashan Road, Shanghai, 200030 People's Republic of China.

2Biomedical Sciences Institute, the Qingdao Branch of SJTU Bio-X Institutes, Qingdao University, Qingdao, 266003 People's Republic of China.

出版信息

Hereditas. 2019 Jan 16;156:4. doi: 10.1186/s41065-018-0078-0. eCollection 2019.

DOI:10.1186/s41065-018-0078-0

PMID:30679935

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6335706/

Abstract

BACKGROUND

Serum uric acid (SUA), hyperuricemia (HUA) and gout are complex traits with relatively high heritability. This study aims to identify whether a candidate gene, , exerts susceptibility for SUA fluctuation and incidence of HUA and gout in the Han Chinese population.

RESULTS

Three sample sets of 1376 gout patients, 1290 long-term HUA subjects (no gout attack) and 1349 normouricemic controls were recruited for this study. Eight polymorphisms in the gene were genotyped using the ligase detection reaction-polymerase chain reaction (LDR-PCR) technology. Rs16941238 showed the most significant associations with SUA level (minor allele "A", BETA = - 13.84 μmol/L, = 0.0041, P = 0.0042) and HUA (OR = 0.7734, = 0.0033, P = 0.0020), but not with gout (OR = 0.8801, = 0.1315, P = 0.1491). Rs2271437 was significantly associated with gout (minor allele "G", OR = 1.387, = 0.0277, P = 0.0288), and was further confirmed in the meta-analysis with the previously published gout GWAS dataset (OR = 1.3221, = 0.0089). Each variant basically conferred consistent OR direction on gout and HUA, compared with the normouricemic control.

CONCLUSIONS

Our findings support the associations of the gene with the SUA level, the HUA phenotype and gout in Han Chinese.

摘要

背景

血清尿酸（SUA）、高尿酸血症（HUA）和痛风是具有相对较高遗传度的复杂性状。本研究旨在确定候选基因是否对中国汉族人群的SUA波动以及HUA和痛风的发病具有易感性。

结果

本研究招募了三组样本，分别为1376例痛风患者、1290例长期HUA患者（无痛风发作）和1349例正常尿酸血症对照。使用连接酶检测反应-聚合酶链反应（LDR-PCR）技术对该基因中的8个多态性进行基因分型。Rs16941238与SUA水平（次要等位基因“A”，BETA = -13.84μmol/L，= 0.0041，P = 0.0042）和HUA（OR = 0.7734，= 0.0033，P = 0.0020）显示出最显著的关联，但与痛风无关（OR = 0.8801，= 0.1315，P = 0.1491）。Rs2271437与痛风显著相关（次要等位基因“G”，OR = 1.387，= 0.0277，P = 0.0288），并在与先前发表的痛风全基因组关联研究（GWAS）数据集的荟萃分析中得到进一步证实（OR = 1.3221，= 0.0089）。与正常尿酸血症对照相比，每个变体在痛风和HUA上基本赋予一致的OR方向。