对数线性模型在病例-父母对照研究中的应用

介绍应用对数线性模型分析病例-父母对照研究设计的方法.以亚甲基四氢叶酸还原酶基因(MTHFR)C677T与唇腭裂的关联研究为例,应用对数线性模型分析母亲、子代基因及其交互作用与唇腭裂的关系.结果显示变异型纯合子母亲的子代发生唇腭裂的风险低于野生型纯合子母亲的子代,S2=0.43 (95％CI:0.19 ～ 0.95),未发现唇腭裂与子代基因及母子交互作用相关.应用对数线性模型分析病例-父母对照研究设计的方法尤其适用于妊娠期疾病与源于胚胎时期疾病等的病因学研究.

Application of log-linear model in the case-parent triad study

We were introducing a log-linear model for case-parent triad study. Data from a previous study of the association between MTHFR C677T and cleft lip with or without cleft palate (CL/P) was analyzed, in order to investigate the maternal effect, fetal effect and their interaction, using a series of log-linear models. Our results showed that mothers who were carrying two copies of MTHFR C677T variant alleles appeared to have reduced the risk of CL/P in offspring, comparing to those with homozygous of wild-type allele. With S2=0.43 (95%CI: 0.19-0.95). No significant association was found for fetal genotype and maternal-fetal interaction with CL/P. Log-linear model method seemed to be useful in the estimation of maternal effect, fetal effect and maternal-fetal interaction, in the case-parent triad study design. This approach showed specific benefit in studies that related to genetic effects on complex diseases such as pregnancy complications and diseases originated from fetus.