亲爱的研友该休息了!由于当前在线用户较少,发布求助请尽量完整地填写文献信息,科研通机器人24小时在线,伴您度过漫漫科研夜!身体可是革命的本钱,早点休息,好梦!

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
3秒前
完美世界应助nsc采纳,获得10
8秒前
量子星尘发布了新的文献求助10
24秒前
所所应助nsc采纳,获得10
32秒前
小蘑菇应助nsc采纳,获得50
32秒前
Ava应助nsc采纳,获得10
32秒前
隐形曼青应助nsc采纳,获得10
32秒前
慕青应助nsc采纳,获得10
32秒前
脑洞疼应助nsc采纳,获得10
32秒前
善学以致用应助nsc采纳,获得10
32秒前
ding应助nsc采纳,获得30
32秒前
Hello应助nsc采纳,获得10
32秒前
烟花应助nsc采纳,获得10
32秒前
39秒前
40秒前
漫步随心完成签到,获得积分20
1分钟前
NexusExplorer应助科研通管家采纳,获得10
1分钟前
1分钟前
今后应助nsc采纳,获得10
1分钟前
bkagyin应助nsc采纳,获得10
1分钟前
小二郎应助nsc采纳,获得10
1分钟前
Jasper应助nsc采纳,获得10
1分钟前
李爱国应助nsc采纳,获得10
1分钟前
脑洞疼应助nsc采纳,获得10
1分钟前
慕青应助nsc采纳,获得10
1分钟前
天天快乐应助nsc采纳,获得10
1分钟前
Akim应助nsc采纳,获得10
1分钟前
充电宝应助nsc采纳,获得10
1分钟前
量子星尘发布了新的文献求助30
2分钟前
2分钟前
2分钟前
2分钟前
2分钟前
2分钟前
2分钟前
2分钟前
2分钟前
2分钟前
2分钟前
2分钟前
高分求助中
The Mother of All Tableaux Order, Equivalence, and Geometry in the Large-scale Structure of Optimality Theory 2400
Ophthalmic Equipment Market by Devices(surgical: vitreorentinal,IOLs,OVDs,contact lens,RGP lens,backflush,diagnostic&monitoring:OCT,actorefractor,keratometer,tonometer,ophthalmoscpe,OVD), End User,Buying Criteria-Global Forecast to2029 2000
Optimal Transport: A Comprehensive Introduction to Modeling, Analysis, Simulation, Applications 800
Official Methods of Analysis of AOAC INTERNATIONAL 600
ACSM’s Guidelines for Exercise Testing and Prescription, 12th edition 588
A Preliminary Study on Correlation Between Independent Components of Facial Thermal Images and Subjective Assessment of Chronic Stress 500
T/CIET 1202-2025 可吸收再生氧化纤维素止血材料 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 3957061
求助须知:如何正确求助?哪些是违规求助? 3503084
关于积分的说明 11111255
捐赠科研通 3234121
什么是DOI,文献DOI怎么找? 1787751
邀请新用户注册赠送积分活动 870762
科研通“疑难数据库(出版商)”最低求助积分说明 802264