[目的]探讨延边农村地区朝鲜族人群脂联素基因外显子4个位点基因SNPs与代谢综合征(MS)易感性的关系.[方法]在延边农村地区筛选出197例MS病例组及147例同性别及年龄的非MS对照组.采用聚合酶链反应-限制性片段长度多态性分析技术检测脂联素基因SNP+45,SNP+276,SNP-11377,SNP-11391的基因型.[结果]MS组脂联素基因SNP+45TT,TG,GG基因型的分布频率分别为50.3%,43.1%,6.6%,非MS对照组分别为51.O%,41.5%,7.5%(P〉0.05).MS组和非MS对照组T,G等位基因频率均为71.8%和28.2%(P〉0.05).MS组脂联素基因SNP+276位点GG,TG及TT基因型的频率分布分别为65.5%,26.5%,7.6%,非MS对照组分别为48.3%,42.9%,8.8%(P〈0.01).MS组T,G等位基因频率分别为21.1%,78.9%,非MS对照组分别为30.3%,69.7%(P〈0.01).MS组脂联素基因SNP—11377位点CC,CG,GG基因型的频率分布分别为62.4%,31.5%,6.1%,非MS对照组分别为44.2%,49.0%,6.8%(P〈0.01).MS组C,G等位基因频率分别为78.2%,21.8%,非MS对照组分别为68.7%,31.3%(P〈0.01).MS组脂联素基因SNP-11391位点AA,GA,GG基因型的频率分布分别为8.1%,28.9%,62.9%,非Ms对照组分别为9.5%,44.9%,45.6%(P〈0.01).MS组A,G等位基因频率分别为32.0%,68.0%,非MS对照组分别为22.6%,77.4%(P〈0.01).[结论]延边农村地区朝鲜族人群存在脂联素基因+45位点、+276位点、-11377位点、-11391位点单核苷酸多态性,而且4个位点基因型的MS易感性不同.
OBJECTIVE To investigate the correlation between metabolic syndrome (MS) susceptibility and four loci genes of single nucleotide polymorphisms (SNPs) in adiponectin gene exon in Korean-Chinese population of Yanbian rural area. METHODS 197 cases of MS and 147 cases of non MS with age and gender matched were selected as MS group and non MS control group, and the genotypes of SNP + 45, SNP + 276, SNP- 11 377 and SNP- 11 391 of adiponectin genes were detected by using the polymerase chain reaction-restriction fragment length polymorphism (PCR- RFLP). RESULTS The distribution frequencies of TT, TG and GG genotype at the SNP + 45 site were 50.3%, 43.1%, 6.6% in MS group and 51.0%, 41.5%, 7.5% in non MS controls group (P〉0. 05), respectively, and all allele frequencies of T and G in MS and in non MS controls group were 71.8% and 28.2% (P〉0.05). The distributionfrequencies of GG, TG and TT genotype at the SNP + 276 site were 65.5 %, 26. 5 % and 7. 6 % in MS group and 48.3%, 42.9% and 8. 8% in non MS controls group (P〈0.01), respectively, and allele frequencies of T and G were 21.1%, 78.9% in MS controls and 30.3%, 69.7% in non MS controls group(P〈0.01), respectively. The distribution frequencies of CC, CG and GG genotype at the SNP- 11 377 site were 62.4%, 31.5% and 6.1% in MS group and 44.2%, 49.0% and 6.8% in non MS controls group (P〈0.01), respectively, and allele frequencies of C and G were 78.2%, 21.8% in MS controls and 68. 7%, 31.3% in non MS controls group(P〈0.01), respectively. The distribution frequencies of AA, GA and GG genotypeat the SNP- 11 391 site were 8.1%, 28.9% and 62.9% in MS group and 9.5%, 44.9% and 45.6% in non MS controls group (P〈0.01), respectively, and allele frequencies of A and G were 32.0%, 68. 0% in MS controls and 22.6%, 77.4% in non MS controls group (P 〈0.01), respectively. CONCLUSION There are SNPs of adiponectin gene + 45, + 276, 11 377 and 11 391 sites in Korean-Chinese population of Yanbian rural area, and there