Department of Epidemiology and Biostatics, Michigan State University, East Lansing, Michigan, USA.
Genet Epidemiol. 2013 Apr;37(3):248-55. doi: 10.1002/gepi.21709. Epub 2013 Jan 17.
Although comorbidity among complex diseases (e.g., drug dependence syndromes) is well documented, genetic variants contributing to the comorbidity are still largely unknown. The discovery of genetic variants and their interactions contributing to comorbidity will likely shed light on underlying pathophysiological and etiological processes, and promote effective treatments for comorbid conditions. For this reason, studies to discover genetic variants that foster the development of comorbidity represent high-priority research projects, as manifested in the behavioral genetics studies now underway. The yield from these studies can be enhanced by adopting novel statistical approaches, with the capacity of considering multiple genetic variants and possible interactions. For this purpose, we propose a bivariate Mann-Whitney (BMW) approach to unravel genetic variants and interactions contributing to comorbidity, as well as those unique to each comorbid condition. Through simulations, we found BMW outperformed two commonly adopted approaches in a variety of underlying disease and comorbidity models. We further applied BMW to datasets from the Study of Addiction: Genetics and Environment, investigating the contribution of 184 known nicotine dependence (ND) and alcohol dependence (AD) single nucleotide polymorphisms (SNPs) to the comorbidity of ND and AD. The analysis revealed a candidate SNP from CHRNA5, rs16969968, associated with both ND and AD, and replicated the findings in an independent dataset with a P-value of 1.06 × 10(-03) .
虽然复杂疾病(例如药物依赖综合征)之间存在共病现象已有充分记录,但导致共病的遗传变异仍知之甚少。发现导致共病的遗传变异及其相互作用可能有助于揭示潜在的病理生理和病因学过程,并促进共病的有效治疗。出于这个原因,发现促进共病发展的遗传变异的研究代表了高度优先的研究项目,正如现在正在进行的行为遗传学研究所表明的那样。通过采用能够考虑多个遗传变异和可能的相互作用的新统计方法,可以提高这些研究的产量。为此,我们提出了一种双变量曼-惠特尼(BMW)方法来揭示导致共病以及每种共病独特的遗传变异和相互作用。通过模拟,我们发现 BMW 在各种潜在疾病和共病模型中优于两种常用方法。我们进一步将 BMW 应用于来自成瘾研究:遗传学和环境的数据集,研究 184 个已知的尼古丁依赖(ND)和酒精依赖(AD)单核苷酸多态性(SNP)对 ND 和 AD 共病的贡献。分析显示来自 CHRNA5 的候选 SNP,rs16969968,与 ND 和 AD 均相关,并在具有 1.06×10(-03) 的 P 值的独立数据集中复制了该发现。