一项瑞典全国性的心力衰竭遗传力的收养研究。
A Swedish Nationwide Adoption Study of the Heritability of Heart Failure.
机构信息
Center for Primary Health Care Research, Department of Clinical Sciences, Lund University and Region Skåne, Malmö, Sweden.
Department of Cardiology, Clinical Sciences, Lund University and Skåne University Hospital, Lund, Sweden.
出版信息
JAMA Cardiol. 2018 Aug 1;3(8):703-710. doi: 10.1001/jamacardio.2018.1919.
IMPORTANCE
Heart failure (HF) aggregates in families, but the heritability of HF has not been determined. Discerning the genetic and environmental contributions to HF risk is important to further helping to identify individuals at risk. Adoption studies may establish the genetic contribution to HF.
OBJECTIVE
This nationwide adoption study aimed to determine the heritability of HF.
DESIGN, SETTING, AND PARTICIPANTS: This case-control study and cohort study design used logistic regression for calculating risks of HF in adoptees. Adoptees who were born in Sweden between 1942 and 1990 were linked to their adoptive parents and biological parents. The Swedish Multi-Generation Register was linked to the Swedish Patient Register for information on hospital inpatient and outpatient admissions and to the Swedish Cause of Death Register for the period 1964 through 2015. Heritability (h2 with a standard error) for HF was determined both with Falconer regression and with tetrachoric correlation. Data analysis was completed from July 2017 to April 2018.
EXPOSURES
Heart failure in biological parents and/or adoptive parents.
MAIN OUTCOMES AND MEASURES
Heritability; risk of HF, expressed as odds ratios.
RESULTS
A total of 21 643 adoptees were included (of whom 10 626 [49.1%] were female), as well as 35 016 adoptive parents (14 872 [42.5%] female) and 43 286 biological parents (21 643 [50.0%] female). There were 194 cases of HF in adoptees, 3972 cases of HF in adoptive parents, and 3657 cases of HF in biological parents. The cohort study odds ratio (OR) for heart failure was 1.45 in adoptees (95% CI, 1.04-2.03) for biological parents with HF, compared with those without an affected biological parent. If cardiomyopathies were excluded, this OR was 1.58 (95% CI, 1.03-2.42). The corresponding OR associated with an affected adoptive parent were nonsignificant, both with cardiomyopathies included (OR, 0.83 [95% CI, 0.57-1.20]) and with cardiomyopathies excluded (OR, 0.79 [95% CI, 0.49-1.29]). The heritability of HF per Falconer regression (h2) was 26% (SE, 14%). With exclusion of cardiomyopathies the heritability using Falconer regression was 34% (SE, 18%).
CONCLUSIONS AND RELEVANCE
Heart failure in a biological parent is an HF risk factor that is worth clinical consideration. The increased heritability of HF suggests that genetic factors are important in HF pathogenesis.
重要性
心力衰竭（HF）在家族中聚集，但 HF 的遗传率尚未确定。辨别 HF 风险的遗传和环境贡献对于进一步帮助识别高危人群非常重要。收养研究可以确定 HF 的遗传贡献。
目的
本全国性收养研究旨在确定 HF 的遗传率。
设计、设置和参与者：本病例对照研究和队列研究设计使用逻辑回归计算收养儿 HF 的风险。1942 年至 1990 年期间在瑞典出生的收养儿与他们的养父母和亲生父母联系在一起。瑞典多代登记处与瑞典患者登记处相连，以获取医院住院和门诊入院信息，并与瑞典死因登记处相连，以获取 1964 年至 2015 年期间的信息。HF 的遗传率（h2 及其标准误差）通过 Falconer 回归和四元相关来确定。数据分析于 2017 年 7 月至 2018 年 4 月完成。
暴露
亲生父母和/或养父母的心力衰竭。
主要结果和测量
遗传率；HF 的风险，用优势比表示。
结果
共纳入 21643 名收养儿（其中 10626 名[49.1%]为女性），35016 名养父母（其中 14872 名[42.5%]为女性）和 43286 名亲生父母（其中 21643 名[50.0%]为女性）。收养儿中有 194 例 HF，养父母中有 3972 例 HF，亲生父母中有 3657 例 HF。与无患病亲生父母的收养儿相比，患有 HF 的亲生父母的队列研究 HF 比值比（OR）为 1.45（95%CI，1.04-2.03）。如果排除心肌病，该 OR 为 1.58（95%CI，1.03-2.42）。与患有 HF 的亲生父母相比，患有 HF 的养父母的相应 OR 不显著，包括心肌病（OR，0.83[95%CI，0.57-1.20]）和不包括心肌病（OR，0.79[95%CI，0.49-1.29]）。Falconer 回归（h2）的 HF 遗传率为 26%（SE，14%）。使用 Falconer 回归排除心肌病后，遗传率为 34%（SE，18%）。
结论和相关性
亲生父母的心力衰竭是 HF 的一个危险因素，值得临床考虑。HF 遗传率的增加表明遗传因素在 HF 发病机制中很重要。
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