| 王璐,米杰,程红,顾雪,侯冬青,鲁杰,吴建新,赵小元,丁秀原.中国人胰岛素受体基因EXON2-2257位点多态性与胰岛素抵抗的关系[J].中华流行病学杂志,2004,25(1):49-53 |
| 中国人胰岛素受体基因EXON2-2257位点多态性与胰岛素抵抗的关系 |
| Study on the relationship between polymorphism of insulin-receptor gene EXON2-2257 and insulin in Chinese people |
| 收稿日期:2003-02-09 出版日期:2014-09-17 |
| DOI： |
| 中文关键词: 胰岛素抵抗 胰岛素受体基因 多态性 |
| 英文关键词: Insulin resistance Insulin receptor gene Polynwrphism |
| 基金项目:国家自然科学基金资助项目（39970658） |
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| 中文摘要: |
| 目的 从群体角度探讨胰岛素抵抗与胰岛素受体基因多态性的关系。方法 用聚合酶链反应（PCR）对某一特定队列中国人群的胰岛素受体基因第二外显子（EXON2）进行扩增，并用PCR产物直接测序法对EXON2进行了单核苷酸序列分析。结果 在EXON2-2257位点测得单核苷酸多态性，在345人中表现为:；纯合CC基因型237人，占68.70%；，基因频率0.825；纯合TT基因型13人，占3.77%；，基因频率0.175；杂合CT基因型95人，占27.54%；，符合Hardy-Weinburg平衡（X2=；0.2898， u=；3-2=；1，0.5<；P<；0.75）。男女TT、CT基因型人群的甘油三酯水平、稳态模式评估法（HOMA）评价的胰岛素抵抗指数（HOMA-IR）均显著低于CC基因型人群（P<；0.05）；与CC基因型相比，C基因型在胰岛素抵抗组的构成比（18.4%；）显著低于对照组（30.6%；）（P=；0.022，OR=；0.493）；TT基因型虽然在胰岛素抵抗组的构成比（2.3%；）低于对照组（4.3%；），但P=；0.297，差异无显著性。logistic分析结果表明:；在调整了诸如服用降压药、降糖药、血脂浓度、体重指数和高血压等因素的混杂作用后，与CC基因型人群相比，CT基因型人群患胰岛素抵抗的危险性OR=；0.448，95%；CI:；0.214 ~；0.940。结论 CT基因型可能是胰岛素抵抗的一个保护性基因型的候选基因。 |
| 英文摘要: |
| Objective To understand the role of insulin-receptor gene in the development of insulin resistance on a population-based study in China.Methods Polymerase chain reaction （PCR） was used to amplify the EXON2 of the insulin-receptor gene and all amplified products were analyzed by direct sequencing.Results Three genotypes of single nucleotide at the site of 2257 in EXON2 of the insulin-receptor gene were identified.In 237 of the 345 cases （68.7%）, homozygote genotype of CC phenotype was found with a gene frequency of 0.825; 13 cases（3.77%）showed homozygote genotype of TT phenotype with a gene frequency of 0.175 and the rest 95 cases （27.54%）showed heterozygote genotype of CT phenotype.Data were in agreement with the test of Hardy-Weinberg balance（X2=0.2898,v=3-2=1,0.5<P< 0.75）.The serum level of triglyceride and the HOMA-IR index, the status of insulin resistance assessed homeostasis model assessmend（HOMA),were lower in the TT or CT genotype group than that in the CC genotype group（P<0.05）.Comparing with CC genotype, the proportion of CT genotype（18.4%）in the insulin resistance group（large than 75th percentile of HOMA-IR） was significantly lower than that in the control group (30.6%）（P=0.022, OR=0.493）.The proportion of TT genotype (2.3%）in insulin resistance group was lower than that in the control group (4.3,P=0.297）,logistic analysis revealed that after adjusting possible confounding factors such as taking anti-hypertensive and anti-diabetic medications, serum triglyceride and high density lipoprotein cholesterol （HDL-C）,hypertension,BMI,smoking history, the OR value of people in the insulin resistance group with CT genotype was 0.448 (95 % CI : 0.214 to 0.940) compared to the group with CC genotype. Conclusion The hybridization CT genotype at the site of 2257 in EXON2 of insulin-receptor gene might have a candidate gene to serve as a protective factor for insulin resistance. |
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