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目的研究PLIN基因6209T>C、11482G>A和14995A>T在中国汉族肥胖人群中的分布及其与BMI的关系。方法通过健康体检筛选339名汉族成年肥胖受试者,常规方法进行体格测量。利用PCR扩增及基因组测序方法测定所有受试者DNA中PLIN基因多态性位点PLIN1(6209T>C)、PLIN4(11482G>A)和PLIN6(14995A>T)的基因型,并通过BMI分层,描述频率分布。结果在所有受试者中,PLIN1常见等位基因T占44.4%,罕见等位基因C占55.6%。PLIN4常见等位基因G占64.2%,罕见等位基因A占35.8%,且GG表型频率随着BMI的增大而增大(P<0.05),特别是在女性受试者;AA表型恰好则相反(P<0.05)。PLIN6位点常见等位基因A占61.2%,罕见等位基因T占38.8%。女性AA表型分布频率随着BMI增加显著增加(P<0.05),T表型减少。结论在中国汉族肥胖受试者中,PLIN1以罕见基因C表型多见,C表型可能与肥胖程度有关;PLIN4以常见基因G表型为主,罕见基因A表型可能与低BMI和低肥胖风险相关;PLIN6以常见基因A表型多见,罕见基因T表型可能与成年女性低BMI和低肥胖风险相关。
Objective To investigate the distribution of PLIN gene 6209T> C, 11482G> A and 14995A> T in Chinese obese Chinese population and its relationship with BMI. Methods A total of 339 Han adults with obesity were screened by healthy physical examination and their physical measurements were performed by routine methods. The genotypes of PLIN1 (6209T> C), PLIN4 (11482G> A) and PLIN6 (14995A> T) polymorphisms in DNA of all subjects were determined by PCR amplification and genomic sequencing. The BMI Layers, describing the frequency distribution. Results In all the subjects, T allele of PLIN1 accounted for 44.4% and rare allele C accounted for 55.6%. The common allele G of PLIN4 accounted for 64.2%, the rare allele A accounted for 35.8%, and the GG phenotype frequency increased with the increase of BMI (P <0.05), especially in female subjects; AA phenotype The opposite was true (P <0.05). The common allele A of PLIN6 accounted for 61.2%, and the rare allele T accounted for 38.8%. The distribution frequency of AA in women increased significantly with the increase of BMI (P <0.05), and the phenotype of T decreased. Conclusions Among Han Chinese obese subjects, PLIN1 is more common in rare gene C phenotype, and C phenotype may be related to the degree of obesity. PLIN4 is predominantly common in genotype G, and rare gene A phenotype may be associated with low BMI and low Obesity risk; PLIN6 common gene A phenotype more common, rare gene T phenotype may be associated with low female BMI and low fat risk.