The confounding effect of cryptic relatedness for environmental risks of systolic blood pressure on cohort studies.
The confounding effect of cryptic relatedness for environmental risks of systolic blood pressure on cohort studies.
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DOI：
10.1002/mgg3.4
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发表时间：
2013-05
影响因子：
2
通讯作者：
Kayama, Takamasa
中科院分区：
文献类型：
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作者：
Shibata, Kyoko;Hozawa, Atsushi;Tamiya, Gen;Ueki, Masao;Nakamura, Tomohiro;Narimatsu, Hiroto;Kubota, Isao;Ueno, Yoshiyuki;Kato, Takeo;Yamashita, Hidetoshi;Fukao, Akira;Kayama, Takamasa
隐性相关性（CR）对基因组关联研究的影响已得到充分研究，并已知会增加假阳性率，如几个小组所报告的那样。相比之下，传统的环境风险流行病学研究中，CR的混杂效应仍未得到研究。在这项研究中，我们调查了未调整的CR在农村队列中的环境危险因素（体重指数，吸烟状况，饮酒）和收缩压之间的关系的混杂效应。我们应用基于人群的全基因组关联研究方法对1622例受试者的全基因组单核苷酸多态性数据进行分析，在该队列人群中检测到20.2%的CR。在样本量约为1000例的情况下，CR占人群的比例为20.2%，人群患病率为25%，CR中的患病率为26%，易感性遗传率为14.3%，无CR亚群中的患病率为26%，有CR和无CR样本之间的估计回归系数差异不显著（P值= 0.55）。另一方面，在另一个病例中，责任的遗传率约>20%，我们表明，由于CR的混杂使暴露效应的估计有偏差。
The impact of cryptic relatedness (CR) on genomic association studies is well studied and known to inflate false-positive rates as reported by several groups. In contrast, conventional epidemiological studies for environmental risks, the confounding effect of CR is still uninvestigated. In this study, we investigated the confounding effect of unadjusted CR among a rural cohort in the relationship between environmental risk factors (body mass index, smoking status, alcohol consumption) and systolic blood pressure. We applied the methods of population-based whole-genome association studies for the analysis of the genome-wide single nucleotide polymorphism data in 1622 subjects, and detected 20.2% CR in this cohort population. In the case of the sample size, approximately 1000, the ratio of CR to the population was 20.2%, the population prevalence 25%, the prevalence in the CR 26%, heritability for liability 14.3% and prevalence in the subpopulation without CR 26%, the difference of estimated regression coefficient between samples with and without CR was not significant (P-value = 0.55). On the other hand, in another case with approximately >20% heritability for liability, we showed that confounding due to CR biased the estimation of exposure effects.