摘要
目的探讨四川地区汉族人群原发性闭角型青光眼（primaryangleclosureglaucoma，PAcG）与rsll024102（PLEKHA7）、rs3753841（COLlIAl）和rsl015213（PCMTDl—sT18）单核苷酸多态性（singlenucleotidepolymorphism，SNP）位点的关联性。方法选取四川地区362例PACG患者及年龄、性别及民族相匹配的1056名的正常对照，用单碱基延伸（SNaPshot）法对rsll024102、rs3753841和rsl0152133个SNP位点进行基因分型，并进行病例一对照关联分析。结果rsll024102、rs3753841、rsl015213这3个SNP位点的基因型频率在PACG病例组和对照组间差异均无统计学意义，P值分别为0．62、0．42和0．34，OR值（95％CI）分别是1．09（O．91～1．30）、1．04（O．87～1．41）和1.35（0．73～2．49）。这3个SNP位点的等位基因频率在PACG病例组和正常对照组间的差异也均无统计学意义，P值分别为0．347、0．698和0．344。结论SNP位点rsll024102（PLEKHA7）、rs3753841（COLjjAj）和rsl015213（PCMTDj—Sn8）与四川地区汉族人群的PACG无关联性。
Objective To assess the association of single nucleotide polymorphisms （SNPs） of PLEKHA7, COLJJA1 and PCMTD1-ST18 genes and primary angle closure glaucoma （PACG） among ethnic Han Chinese from Sichuan Province. Methods In this study, 362 subjects with PACG and 1056 age- and sex-matched healthy controls were recruited. Genotypes of 3 reported SNPs, including PLEKHA7 rs11024102, COL11A1 rs3753841 and PCMTD1-ST18 rs1015213 were determined with a SNaPshot method. Results The P values for the genotype frequencies of rs11024102, rs3753841 and rs1015213 between the patient and control groups were 0. 62 （OR= 1.09, 95%CI： 0. 91-1.30）, 0. 42 （OR= 1.04, 95%CI： 0.87-1.41） and 0. 34 （OR= 1.35, 95%CI： 0. 73-2. 49） , respectively. And the P values for the allele frequency distributions of PLEKHA7 rs11024102, COL11A1 rs375384I and PCMTD1-ST18 rs1015213 between the two groups were 0. 347, 0. 698 and 0. 344, respectively. Conclusion No significant association of PLEKHA7 rs11024102, COL11A1 rs3753841 and PCMTDI-ST18 rs1015213 with PACG was found among ethnic Han Chinese from Sichuan.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2016年第4期545-549,共5页
Chinese Journal of Medical Genetics
