中国汉族人群SNPH基因多态性与精神分裂症的关联研究

 目的 探讨伸展蛋白（syntaphilin，SNPH）基因与中国汉族人群精神分裂症（schizophrenia，SZ）之间的关联性。方法 采用TaqMan探针基因分型技术对389例SZ患者（病例组）和433例健康对照（对照组）的SNPH基因5个单核苷酸多态性（single nucleotide polymorphism，SNP）位点（rs3764714、rs3795139、rs3803947、rs3803949、rs6134520）进行基因分型及连锁不平衡分析。分析等位基因、基因型以及单倍型频率分布有无差异，比较两组不同遗传模式下基因型分布有无差异。结果 SNPH基因5个SNP位点连锁不平衡分析结果显示，5个位点可构成一个5个基因位点所组成的单倍型区块（D’>0.8）。5个基因所组成的单倍型A-A-A-C-T、G-A-G-T-T、G-G-G-C-C频率分布在病例组与对照组间差异无统计学意义（P=0.978、P=0.535、P=0.524）。SNPH基因5个SNP位点等位基因及基因型频率分布在病例组与对照组之间差异均无统计学意义。在共显性、显性、隐性及加性遗传模式下，该5个SNP位点基因型频率分布在病例组与对照组之间差异也无统计学意义。结论 在中国汉族人群中，SNPH基因可能不是SZ的易感基因。

Association study of SNPH gene polymorphisms with schizophrenia in Chinese Han population

Objective To investigate the relationship between syntaphilin (SNPH) gene and schizophrenia(SZ)in Chinese Han population. Methods TaqMan probe genotyping technique was used to detect 5 single nucleotide polymorphisms(SNPs)of SNPH gene in 389 SZ patients(case group)and 433 healthy controls(control group),including rs3764714,rs3795139,rs3803947,rs3803949 and rs6134520. Then we conducted linkage disequilibrium analysis and analyzed whether there were differences in the frequency distribution of alleles,genotypes and haplotypes. At last,we compared the differences in genotype distributions under different genetic patterns between the two groups. Results The linkage disequilibrium analysis showed that the five locus could constitute a haplotype block(D' >0.8). However,in subsequent studies,there was no statistical significance in the frequency distribution of haplotypes A-AA-C-T,G-A-G-T-T,and G-G-G-C-C composed of the five genes between the case group and the control group(P=0.978,P=0.535,P=0.524). There was no significant difference in allele and genotype frequency distributions between the two groups. Besides,under the co-dominant,dominant,recessive and log-additive inheritance patterns,there was still no statistical significance in the genotype frequency distributions between the case group and the control group. Conclusion SNPH gene may not be a susceptible gene for SZ in Chinese Han population.