Division of Rheumatology, Orthopaedics and Dermatology, School of Medicine, University of Nottingham.
Division of Rheumatology, Allergy and Immunology, Chang Gung Memorial Hospital.
Circ J. 2017 Dec 25;82(1):232-238. doi: 10.1253/circj.CJ-17-0250. Epub 2017 Aug 19.
Congenital heart defects (CHD) are known to cluster within families, but existing evidence varies for the estimates of familial relative risk (RR). We aimed to examine familial aggregation and heritability of CHD in the general population of Taiwan.Methods and Results:We conducted a population-based family study using the Taiwan National Health Insurance (NHI) research database. Individuals with affected first-degree (n=295,636) or second-degree (n=73,985) relatives were identified from all NHI beneficiaries (n=23,422,955) registered in 2012. Diagnoses of CHD for all study subjects were ascertained between January 1, 1996 and December 31, 2012. Having a twin, a first-degree relative and an affected second-degree relative were associated with an adjusted RR of 12.03 (11.59-12.49), 4.91 (4.85-4.97) and 1.21 (1.14-1.28) for CHD, respectively. Individuals with 1 affected first-degree relative had a RR of 4.78 (4.72-4.84), and those with ≥2 had an RR of 7.10 (6.77-7.45) for CHD. The estimated accountability for phenotypic variance of CHD was 37.3% for familial transmission and 62.8% for non-shared environmental factors.
Our results indicated that CHD tend to cluster within families, and approximately one-third of phenotypic variance was explained by familial factors.
先天性心脏病（CHD）已知在家族中聚集，但现有证据对家族相对风险（RR）的估计值存在差异。我们旨在研究 CHD 在台湾普通人群中的家族聚集性和遗传性。
我们使用台湾全民健康保险（NHI）研究数据库进行了一项基于人群的家族研究。从 2012 年登记的所有 NHI 受益人中（n=23422955 人）确定了受影响的一级（n=295636 人）或二级（n=73985 人）亲属的个体。所有研究对象的 CHD 诊断均于 1996 年 1 月 1 日至 2012 年 12 月 31 日期间确定。双胞胎、一级亲属和受影响的二级亲属与 CHD 的校正 RR 分别为 12.03（11.59-12.49）、4.91（4.85-4.97）和 1.21（1.14-1.28）。有 1 个受影响的一级亲属的个体 RR 为 4.78（4.72-4.84），有≥2 个受影响的一级亲属的个体 RR 为 7.10（6.77-7.45）。CHD 表型变异的可归因于家族传递的比例为 37.3%，非共享环境因素的比例为 62.8%。
我们的结果表明，CHD 倾向于在家族中聚集，大约三分之一的表型变异由家族因素解释。
