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Safe linkage of cohort and population-based register data in a genome-wide association study on health care expenditure
bioRxiv - Genetics Pub Date : 2020-10-17 , DOI: 10.1101/2020.10.17.334896
Eveline L. de Zeeuw , Lykle Voort , Ruurd Schoonhoven , Michel G. Nivard , Thomas Emery , Jouke-Jan Hottenga , Gonneke A.H.M. Willemsen , Pearl A. Dykstra , Narges Zarrabi , John D. Kartopawiro , Dorret I. Boomsma

Background: There are research questions whose answers require record linkage of multiple databases which may be characterized by limited options for full data sharing. For this purpose, the Open Data Infrastructure for Social Science and Economic Innovations (ODISSEI) consortium has supported the development of the ODISSEI Secure Supercomputer (OSSC) platform that allows researchers to link cohort data to data from Statistics Netherlands and run analyses in a high performance computing (HPC) environment. Methods: After successful record linkage genome-wide association (GWA) analyses were carried out on expenditure for total health, mental health, primary and hospital care and medication. Record linkage for genotype data from 16,726 participants from the Netherlands Twin Register (NTR) with data from Statistics Netherlands was accomplished in the secure OSSC platform, followed by gene-based tests and estimation of total and SNP-based heritability. Results: The total heritability of expenditure ranged between 29.4 (SE 0.8) and 37.5 (SE 0.8) per cent, but GWA analyses did not identify single SNPs or genes that were genome-wide significantly associated with health care expenditure. SNP-based heritability was between 0.0 (SE 3.5) and 5.4 (SE 4.0) per cent and was different from zero for mental health care and primary care expenditure. Conclusions: We successfully linked genotype data to administrative health care expenditure data from Statistics Netherlands and performed a series of analyses on health care expenditure. The OSSC platform offers secure possibilities for analysing linked data in large-scale and realizing sample sizes required for GWA studies, providing invaluable opportunities to answer many new research questions.

中文翻译:

在医疗保健支出的全基因组关联研究中,队列和基于人群的注册数据的安全关联

背景:有些研究问题的答案需要多个数据库的记录链接,而这些链接的特征可能是完全数据共享的选项有限。为此,社会科学和经济创新开放数据基础架构(ODISSEI)联盟支持了ODISSEI安全超级计算机(OSSC)平台的开发,该平台使研究人员可以将同类队列数据与荷兰统计局的数据链接起来,并进行高效的分析计算(HPC)环境。方法:在成功记录连锁全基因组关联(GWA)后,对总健康,心理健康,初级和医院护理以及药物的支出进行了分析。记录来自16的基因型数据的链接 来自荷兰双胞胎注册(NTR)的726名参与者与来自荷兰统计局的数据在安全的OSSC平台上完成,随后进行了基于基因的测试以及对总遗传力和基于SNP的遗传力的估计。结果:支出的总遗传力介于29.4%(SE 0.8)和37.5(SE 0.8)之间,但是GWA分析并未发现与保健支出显着相关的单个SNP或全基因组基因。基于SNP的遗传力介于0.0(SE 3.5)和5.4(SE 4.0)之间,并且在精神保健和初级保健支出方面不为零。结论:我们成功地将基因型数据与来自荷兰统计局的行政医疗支出数据相关联,并对医疗支出进行了一系列分析。
更新日期:2020-10-19
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