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目的探讨核纤层蛋白A/C(nuclear lamin A/C,LMNA)基因第十外显子第1908位点基因多态性与南京地区汉族代谢综合征的相关性。方法代谢综合征(metabolic syndrome,MS)患者56例为MS组,体检健康者52例为对照组,比较2组体质量指数(body mass index,BMI)、血压、血清总胆固醇(total cholesterol,TC)、低密度脂蛋白胆固醇(low density lipoprotein-cholesterol,LDL-C)、高密度脂蛋白胆固醇(high density lipoprotein-cholesterol,HDL-C)、三酰甘油(triacylglycerol,TG)、空腹血糖(fasting plasma glucose,FPG)水平;应用柱式DNA抽提法提取全血基因组DNA,采用Taqman-MGB技术对2组LMNA基因第十外显子1908C/T位点的单核苷酸多态性分型进行检测;将56例MS患者依据是否伴有动脉粥样硬化(atherosclerosis,AS)斑块分为2组,比较MS组与对照组,MS组伴和不伴AS者1908C/T基因型及等位基因频率。结果 MS组BMI[(28.10±2.40)kg/m2]、收缩压[(140.20±14.40)mm Hg]、FPG[(6.26±1.90)mmol/L]、TG[(1.97±1.20)mmol/L]水平均高于对照组[(22.10±2.00)kg/m2、(127.80±16.10)mm Hg、(5.21±0.90)mmol/L、(1.26±0.40)mmol/L](P<0.05),TC、LDL-C、HDL-C水平与对照组比较差异无统计学意义(P>0.05);MS组LMNA1908位点CC基因型频率(45.95%)与对照组(54.05%)比较差异无统计学意义(P>0.05),CT+TT基因型频率(64.71%)高于对照组(35.29%),但差异无统计学意义(P>0.05);MS组LMNA基因1908位点T等位基因频率(68.42%)高于对照组(31.58%)(P<0.05);MS组伴AS者32例,不伴AS者24例,伴AS者LMNA基因1908位点CT+TT基因型频率(54.55%)及T等位基因频率(61.54%)均高于不伴AS者(45.45%,38.46%),但差异无统计学意义(P>0.05)。结论南京地区汉族MS患者发病可能与LMNA基因1908位点T等位基因频率有关。
Objective To investigate the association between polymorphism of 1908 locus in exon 10 of nuclear lamin A / C (LMNA) gene and metabolic syndrome in Han nationality in Nanjing. Methods Fifty-six patients with metabolic syndrome (MS) were selected as MS group and 52 healthy controls as control group. Body mass index (BMI), blood pressure, total cholesterol (TC , Low density lipoprotein-cholesterol (LDL-C), high density lipoprotein-cholesterol (HDL-C), triacylglycerol (TG), fasting plasma glucose and FPG). Genomic DNA was extracted from the whole blood by column DNA extraction. The genotypes of 1908C / T locus in exon 10 of two LMNA genes were genotyped by Taqman-MGB 56 cases of MS patients were divided into two groups according to whether the atherosclerosis plaque was divided into two groups. The 1908C / T genotype and allele of MS group and control group were compared Gene frequency. Results The BMI (28.10 ± 2.40) kg / m2, systolic blood pressure (140.20 ± 14.40) mm Hg, FPG (6.26 ± 1.90) mmol / L and TG [1.97 ± 1.20 mmol / L] (P <0.05). The levels of TC, IL-6 and IL-6 in the control group were significantly higher than those in the control group (22.10 ± 2.00 kg / m2, 127.80 ± 16.10 mmHg, 5.21 ± 0.90 mmol / L, 1.26 ± 0.40 mmol / There was no significant difference in LDL-C and HDL-C levels between the control group and the control group (P> 0.05). There was no significant difference in CC genotype frequency between the LMNA1908 site (45.95%) and the control group (54.05% (P> 0.05). The frequency of CT + TT genotype (64.71%) was higher than that of control group (35.29%), but the difference was not statistically significant (P> 0.05) (31.58%, P <0.05). There were 32 cases of AS in MS group and 24 cases of non-AS in AS group. The frequency of CT + TT genotype of LMNA gene 1908 in AS group was 54.55% The frequency of T allele (61.54%) was higher than those without AS (45.45%, 38.46%), but the difference was not statistically significant (P> 0.05). Conclusion The incidence of MS patients in Han nationality in Nanjing may be related to the T allele frequency of 1908 locus in LMNA gene.