Genetic contributions to female gout and hyperuricaemia using genome-wide association study and polygenic risk score analyses

痛风 全基因组关联研究 医学 多基因风险评分 内科学 队列 单核苷酸多态性 遗传关联 一致性 遗传学 基因型 基因 生物
作者
Chien‐Yu Lin,Ya‐Sian Chang,Ting-Yuan Liu,Chung‐Ming Huang,Chin‐Chun Chung,Yu‐Chia Chen,Fuu‐Jen Tsai,Jan‐Gowth Chang,Shun‐Jen Chang
出处
期刊:Rheumatology [Oxford University Press]
卷期号:62 (2): 638-646 被引量:1
标识
DOI:10.1093/rheumatology/keac369
摘要

To identify genetic variants and polygenic risk score (PRS) relating to female gout and asymptomatic hyperuricaemia (AH) in a genome-wide association study (GWAS).Gout, AH and normouricemia controls were included from Taiwan biobank and China Medical University Hospital. All participants were divided into discovery and replication cohorts for GWAS. PRS was estimated according to whether the variant exhibited a protective effect on the phenotypes or not. Each cohort was separated into two groups by the age of 50 years old.A total of 59 472 females were enrolled, and gout and AH occupied 1.60% and 19.59%, respectively. Six variants located in genes SLC2A9, C5orf22, CNTNAP2 and GLRX5 were significantly predictors of female gout in those aged ≥50. For those aged <50 years old, only the variant rs147750368 (SPANXN1) on chromosome X was found. Most variants located in genes SLC2A9, ZNF518B, PKD2 and ABCG2 were found to be significantly related to AH in both age groups. The PRS could explain ∼0.59% to 0.89% of variance of gout in variants with protective effects, which showed 6.2 times of mean PRS in the risk variants, but only 1.2 times in the AH phenotype. Moreover, the PRS also revealed a dose-response trend between AH rates and quartile scores.The variants in gene SLC2A9 are the major genetic factors for females associated with gout in those aged ≥50. PRS can provide a more robust prediction of the gout/AH under a homogeneous selection of variants that show effects on the traits.
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
PDF的下载单位、IP信息已删除 (2025-6-4)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
笨笨友桃发布了新的文献求助10
1秒前
elivsZhou完成签到,获得积分10
2秒前
3秒前
xcx发布了新的文献求助10
3秒前
天地一体完成签到,获得积分10
4秒前
坚定盈完成签到,获得积分10
5秒前
稀里糊涂完成签到 ,获得积分10
5秒前
多走一步完成签到,获得积分10
6秒前
w_完成签到,获得积分10
7秒前
爱听歌依波完成签到 ,获得积分10
7秒前
Leon发布了新的文献求助10
7秒前
gsgg完成签到 ,获得积分20
8秒前
笨笨友桃完成签到,获得积分10
8秒前
在水一方应助Huang采纳,获得10
8秒前
9秒前
10秒前
郭郭要努力ya完成签到 ,获得积分10
11秒前
12秒前
科研通AI2S应助Saint采纳,获得10
12秒前
annafan完成签到,获得积分10
12秒前
13秒前
科目三应助雷桑采纳,获得10
13秒前
少吃顿饭并不难完成签到 ,获得积分10
14秒前
珠珠发布了新的文献求助10
14秒前
14秒前
刘三哥完成签到 ,获得积分10
15秒前
隐形曼青应助leederay采纳,获得10
16秒前
上官若男应助to_ooooo采纳,获得10
16秒前
海阔天空发布了新的文献求助10
17秒前
顺心羊完成签到,获得积分10
17秒前
科研_小白完成签到,获得积分10
17秒前
XJTU_jyh完成签到,获得积分10
18秒前
TheaGao完成签到 ,获得积分10
18秒前
不是省油的灯完成签到 ,获得积分10
20秒前
22秒前
22秒前
bububu完成签到,获得积分10
23秒前
nanaki完成签到,获得积分10
23秒前
24秒前
小蘑菇应助lin采纳,获得10
25秒前
高分求助中
【提示信息,请勿应助】关于scihub 10000
Les Mantodea de Guyane: Insecta, Polyneoptera [The Mantids of French Guiana] 3000
徐淮辽南地区新元古代叠层石及生物地层 3000
The Mother of All Tableaux: Order, Equivalence, and Geometry in the Large-scale Structure of Optimality Theory 3000
Global Eyelash Assessment scale (GEA) 1000
Picture Books with Same-sex Parented Families: Unintentional Censorship 550
Research on Disturbance Rejection Control Algorithm for Aerial Operation Robots 500
热门求助领域 (近24小时)
化学 材料科学 医学 生物 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 遗传学 基因 物理化学 催化作用 冶金 细胞生物学 免疫学
热门帖子
关注 科研通微信公众号,转发送积分 4038619
求助须知:如何正确求助?哪些是违规求助? 3576294
关于积分的说明 11375058
捐赠科研通 3306084
什么是DOI,文献DOI怎么找? 1819374
邀请新用户注册赠送积分活动 892698
科研通“疑难数据库(出版商)”最低求助积分说明 815066