中国北方汉族人群APOD基因多态性与精神分裂症的关系

Association between APOD gene polymorphism and schizophrenia in North Chinese Han population

目的:探讨中国北方汉族人群载脂蛋白D(APOD)基因多态性与精神分裂症的关系。方法:应用PCR-RFLP方法检测291个核心家系(精神分裂症患者及其健康父母)APOD基因上rs2280250位点基因型,应用SPSS 12.0统计学软件处理数据,并进行统计学分析。结果:①rs2280250位点基因型A/A、A/G和G/G在患者组和父母组中频数分布均符合Hardy-Weinberg平衡定律(χ2=0.178,df=1,P=0.673;2χ=0.597,df=1,P=0.440);②传递不平衡检验(TDT)显示,杂合子父母传递给受累子女的等位基因未偏离50%(χ2=0.030,P=0.862);③单倍体相对风险分析(HHRR)表明,rs2280250位点等位基因在患者组和父母组的频数分布差异无显著性(2χ=0.055,P=0.815)。结论:APOD基因上rs2280250位点与中国北方汉族人群精神分裂症无关联。

Objective To investigate the genetic association between APOD gene and schizophrenia in the North Chinese Han population. Methods The PCR-based restriction fragment length polymorphism （RFLP） technique was conducted to examine the genotypes of rs2280250 locus of APOD gene in 291 family trios consisting of fathers, mothers, and affected offsprings with schizophrenia, and then the frequencies of genotype and allele of rs2280520 locus of APOD gene were statistically computed. Results （1） The distribution of genotypic frequency of rs2280250 did not deviate from the Hardy-Weinberg equilibrium either in the patient group （X^2=0. 178, df=1, P=0. 673） or in the parent group （X^2 = 0. 597, dr= 1, P= 0. 440） ; （2）The transmission disquilibrium test （TDT） showed the allele transmitted from heterozygotic parents to affected offsprings did not bias from 50% （X^2= 0. 030, P = 0. 862）; （3）The haplotype-based haplotype relative risk test （HHRR） showed there was no significant difference of frequency distribution of allele of rs2280250 between patient group and parent group （X^2= 0. 055, P = 0. 815）. Conclusion The polymorphism of rs2280250 at the APOD locus may not be associated with schizophrenia in North Chinese Han population.