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目的探讨Egr3(early growth response-3)基因单核苷酸多态性(tagging single nucleotide polymorphism,tagSNP)rs1008949、rs1996147在新疆维吾尔族和汉族健康人群的分布特征及其与血脂水平的相关性。方法新疆地区维吾尔族健康人群303例(维族组)和汉族健康人群351例(汉族组),2组采用TaqMan法进行基因分型检测,比较2组Egr3基因rs1008949、rs1996147基因型和等位基因分布频率及不同基因型间的血脂水平。结果维族组Egr3基因rs1008949基因型分布频率(CC型为34.3%、CT型为50.2%、TT型为15.5%)和等位基因分布频率(C为59.4%、T为40.6%)与汉族组(CC型为28.2%、CT型为49.3%、TT型为22.5%,C为52.8%、T为47.2%)比较差异有统计学意义(P<0.01),rs1996147基因型分布频率(AA型为24.7%、AG型51.5%、GG型为23.8%)和等位基因分布频率(A为50.5%、G为49.5%)与汉族组(AA型为14.0%、AG型为44.4%、GG型为41.6%,A为36.2%、G为63.8%)比较差异均有统计学意义(P<0.01);rs1996147位点维族组AA型携带者三酰甘油水平[(2.03±1.16)mmol/L]高于GG型[(1.65±0.88)mmol/L](P<0.05),汉族组GG型携带者总胆固醇[(4.53±1.05)mmol/L]水平高于AA型[(4.19±1.05)mmol/L](P<0.05)。结论 Egr3基因标签SNP在新疆维、汉健康人群中分布有差异;rs1996147多态性与新疆维吾尔族人群三酰甘油水平有关,与汉族总胆固醇水平有关。
Objective To investigate the distribution characteristics of tagging single nucleotide polymorphism (tagSNP) rs1008949 and rs1996147 in healthy Uygur and Han nationality in Xinjiang and its correlation with serum lipids. Methods 303 cases of Uygur healthy population (Uygur group) and 351 healthy Han population (Han group) in Xinjiang were genotyped and detected by TaqMan method. The genotype and allelic distribution of Egr3 rs1008949 and rs1996147 in two groups were compared Frequency and lipid levels among different genotypes. Results The distribution frequency of genotype rs1008949 (34.3% CC, 50.2% CT, 15.5% TT) and allele frequencies (59.4% C, 40.6% T) CC genotype was 28.2%, CT genotype was 49.3%, TT genotype was 22.5%, C was 52.8%, T was 47.2%, the difference was statistically significant (P <0.01), rs1996147 genotype distribution frequency (AA genotype was 24.7 %, AG type 51.5%, GG type 23.8%) and allele frequencies (A was 50.5%, G 49.5%) and Han group (AA 14.0%, AG 44.4%, GG 41.6 %, A was 36.2%, G was 63.8%) (P <0.01). The triglyceride level of AA carriers in Uygur group rs1996147 [(2.03 ± 1.16) mmol / L] was higher than that of rs1996147 The level of total cholesterol [(4.53 ± 1.05) mmol / L] in GG carriers of Han nationality group was higher than that of AA genotype [(4.19 ± 1.05) mmol / L] [(1.65 ± 0.88) mmol / L] ] (P <0.05). CONCLUSION: Egr3 gene SNP is distributed in the healthy population of Uygur and Han Chinese. The polymorphism of rs1996147 is related to the triglyceride level in Xinjiang Uygur population and is related to the total cholesterol level in Han population.