病例父母亲对照研究

目的 介绍病例父母亲对照研究的设计及统计分析方法。方法 以TIVS7-2等位基因与人类神经管缺损关联研究为实例,采用单体型相对风险(HRR)分析、基因型相对风险(GRR)分析、传递/不平衡检验(TDT)等方法进行统计分析。结果 采用HRR分析,HRR=1.33(X~2=1.4618,P=0.2266);采用GRR分析,ψ_1=1.26,ψ_2=0.98(X_(2)~2=3.1809,P=0.2038);采用TDT其值为1.4516(P=0.2283)。提示TIVS7-2等位基因与神经管缺损有微弱关联,但HRR经检验差异均无统计学意义。结论 病例父母亲对照设计使用患者双亲作为对照,避免了人群分层现象,可以用来检测与疾病发病相关的基因及评价基因与环境暴露的交互作用。

Case-parental control study

OBJECTIVE: To introduce the methodology on the design and statistical method as well as analysis of published data related to case-parental control study. METHODS: Data from a research on association between the human neural tube defects and the T allelic variant TIVS7-2 was analyzed by haplotype relative risk (HRR), genotype relative risk (GRR) and transmission/disequilibrium test (TDT) methods. RESULTS: Using the HRR method, HRR value was 1.33 (chi-square statistic is 1.4618 with P = 0.2266). The results of the GRR method showed that psi(1) value was 1.26 and psi(2) value was 0.98 (chi-square statistic is 3.1809 with 2 df, P = 0.2038). The transmission/disequilibrium test showed that TDT was 1.4516 with P = 0.2283. All results suggested that when a weak association of TIVS7-2 allele with neural tube defects was found, there was no evidence showing the statistical difference. CONCLUSION: The case-parental control design method avoids population stratification when parents used as controls. This method might be used to test the association between genes and disease, as well as to evaluate the gene environmental interaction.