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基于健康保险数据的双胞胎和同胞研究:以注意缺陷多动障碍(ADHD)为例。

Twin and sibling studies using health insurance data: the example of attention deficit/hyperactivity disorder (ADHD).

机构信息

Department of Clinical Epidemiology, Leibniz-Institute for Prevention Research and Epidemiology, BIPS GmbH, Bremen, Germany.

出版信息

PLoS One. 2013 Apr 24;8(4):e62177. doi: 10.1371/journal.pone.0062177. Print 2013.

DOI:10.1371/journal.pone.0062177
PMID:23637997
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3634807/
Abstract

BACKGROUND AND AIMS

Twin studies are used to assess the contribution of genetic factors to the aetiology of diseases. To show the feasibility of such research on the basis of health insurance data, we analysed twin and sibling data on the attention deficit/hyperactivity disorder (ADHD) in the German Pharmacoepidemiological Research Database (GePaRD).

METHODS

The GePaRD consists of data from four statutory health insurances, including around 17% of the total population of Germany. Among those insured in 2005, we identified 286,653 non-twin sibling pairs and 12,486 twin pairs. Each pair consisted of an index child (6 to 12 years old) and a co-sibling of equal age or up to five years older. ADHD cases were identified by hospital or ambulatory ICD-10 diagnoses (F90.0 or F90.1) and prescriptions. We estimated tetrachoric correlations, percentage of concordant pairs, concordance rates, and heritability. Weighted estimates for the indirect assessment of mono- and dizygotic pairs were derived.

RESULTS

TETRACHORIC CORRELATIONS WERE HIGHEST FOR TWIN PAIRS OF THE SAME SEX (MALES: 0.85, 95% CI 0.81-0.89; females: 0.81, 95% CI 0.73-0.88) and lowest for opposite-sex non-twin sibling pairs (0.43, 95% CI 0.41-0.45). Heritability estimates were 0.88 (95% CI: 0.79-0.97) for males and 0.77 (95% CI: 0.60-0.95) for females.

CONCLUSIONS

The study clearly reproduced the well-known strong genetic component in the aetiology of ADHD. This approach could be used for further assessments of genetic components in other diseases.

摘要

背景和目的

双胞胎研究用于评估遗传因素对疾病病因的贡献。为了基于健康保险数据展示此类研究的可行性,我们在德国 Pharmacoepidemiological Research Database(GePaRD)中分析了关于注意力缺陷/多动障碍(ADHD)的双胞胎和兄弟姐妹数据。

方法

GePaRD 包含来自四家法定健康保险公司的数据,包括德国总人口的约 17%。在 2005 年参保的人群中,我们确定了 286,653 对非双胞胎兄弟姐妹和 12,486 对双胞胎。每对包括一个索引儿童(6 至 12 岁)和一个年龄相同或大 5 岁以内的同胞。通过医院或门诊 ICD-10 诊断(F90.0 或 F90.1)和处方确定 ADHD 病例。我们估计了四分相关系数、同性别双胞胎对的一致对比例、一致率和遗传性。得出了用于单卵双生和双卵双生间接评估的加权估计值。

结果

同性别双胞胎对的四分相关系数最高(男性:0.85,95%置信区间 0.81-0.89;女性:0.81,95%置信区间 0.73-0.88),而异性非双胞胎兄弟姐妹对的四分相关系数最低(0.43,95%置信区间 0.41-0.45)。男性的遗传率估计值为 0.88(95%置信区间:0.79-0.97),女性为 0.77(95%置信区间:0.60-0.95)。

结论

该研究清楚地再现了 ADHD 病因中众所周知的强烈遗传成分。这种方法可用于进一步评估其他疾病的遗传成分。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0e57/3634807/7295db31458a/pone.0062177.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0e57/3634807/3b8ed7cd4a59/pone.0062177.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0e57/3634807/7295db31458a/pone.0062177.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0e57/3634807/3b8ed7cd4a59/pone.0062177.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0e57/3634807/7295db31458a/pone.0062177.g002.jpg

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