Department of Rheumatology, Orthopaedics and Dermatology, School of Medicine, University of Nottingham, Nottingham, UK Division of Rheumatology, Allergy and Immunology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
Division of Epidemiology and Public Health, School of Medicine, University of Nottingham, Nottingham, UK.
Ann Rheum Dis. 2015 Feb;74(2):369-74. doi: 10.1136/annrheumdis-2013-204067. Epub 2013 Nov 21.
To examine familial aggregation of gout and to estimate the heritability and environmental contributions to gout susceptibility in the general population.
Using data from the National Health Insurance (NHI) Research Database in Taiwan, we conducted a nationwide cross-sectional study of data collected from 22 643 748 beneficiaries of the NHI in 2004; among them 1 045 059 individuals had physician-diagnosed gout. We estimated relative risks (RR) of gout in individuals with affected first-degree and second-degree relatives and relative contributions of genes (heritability), common environment shared by family members and non-shared environment to gout susceptibility.
RRs for gout were significantly higher in individuals with affected first-degree relatives (men, 1.91 (95% CI 1.90 to 1.93); women, 1.97 (95% CI 1.94 to 1.99)) and also in those with affected second-degree relatives (men, 1.27 (95% CI 1.23 to 1.31); women, 1.40 (95% CI 1.35 to 1.46)). RRs (95% CIs) for individuals with an affected twin, sibling, offspring, parent, grandchild, nephew/niece, uncle/aunt and grandparent were 8.02 (6.95 to 9.26), 2.59 (2.54 to 2.63), 1.96 (1.95 to 1.97), 1.93 (1.91 to 1.94), 1.48 (1.43 to 1.53), 1.40 (1.32 to 1.47), 1.31 (1.24 to 1.39), and 1.26 (1.21 to 1.30), respectively. The relative contributions of heritability, common and non-shared environmental factors to phenotypic variance of gout were 35.1, 28.1 and 36.8% in men and 17.0, 18.5 and 64.5% in women, respectively.
This population-based study confirms that gout aggregates within families. The risk of gout is higher in people with a family history. Genetic and environmental factors contribute to gout aetiology, and the relative contributions are sexually dimorphic.
研究痛风的家族聚集性,并估计遗传率和环境因素对痛风易感性的贡献。
利用来自台湾全民健康保险研究数据库的数据,我们对 2004 年接受全民健康保险的 22643748 名受益人的数据进行了一项全国性的横断面研究;其中 1045059 人有医生诊断的痛风。我们估计了受影响一级和二级亲属的个体的痛风相对风险(RR),以及基因(遗传率)、家庭成员共有的环境和非共享环境对痛风易感性的相对贡献。
受影响一级亲属(男性,1.91(95%CI 1.90 至 1.93);女性,1.97(95%CI 1.94 至 1.99))和二级亲属(男性,1.27(95%CI 1.23 至 1.31);女性,1.40(95%CI 1.35 至 1.46))的个体的痛风 RR 显著更高。受影响的双胞胎、兄弟姐妹、子女、父母、孙子女、侄子/侄女、叔叔/阿姨和祖父母的个体的 RR(95%CI)分别为 8.02(6.95 至 9.26)、2.59(2.54 至 2.63)、1.96(1.95 至 1.97)、1.93(1.91 至 1.94)、1.48(1.43 至 1.53)、1.40(1.32 至 1.47)、1.31(1.24 至 1.39)和 1.26(1.21 至 1.30)。遗传率、共同和非共享环境因素对痛风表型方差的相对贡献分别为男性 35.1%、28.1%和 36.8%,女性 17.0%、18.5%和 64.5%。
这项基于人群的研究证实痛风在家庭中聚集。有家族史的人患痛风的风险更高。遗传和环境因素共同导致痛风的发病机制,且相对贡献存在性别差异。