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目的研究CLEC16A基因与中国儿童1型糖尿病(T1DM)易感性及临床表现的关联。方法提取131例无血缘关系的T1DM患儿(T1DM组,均符合1999年WHOT1DM的诊断标准)及121例无血缘关系的成年健康献血员(健康对照组)的外周血基因组DNA(饱和盐析法),选取CLEC16A基因17个具有单核甘酸多态性(SNPs)的位点,运用飞行质谱技术对CLEC16A基因与中国儿童T1DM遗传易感性及临床表现的相关性进行研究。结果1.在17个CLEC16ASNPs位点多态性中,只有rs12921922和rs12931878位点的等位基因的频率在T1DM组中显著增加,其他等位基因的频率分布在T1DM组与健康对照组中无统计学差异。rs12921922的等位基因为C与T,其中T等位基因的频率在T1DM组为90.8%,健康对照组为85.0%,二组比较有统计学差异(P=0.0440)。rs12931878的等位基因为A与C,其中A等位基因的频率在T1DM组为90.1%,健康对照组为84.0%,二组比较有统计学差异(P=0.0435)。2.CLEC16A易感性基因在中国T1DM患儿不同临床表现分组中的频率分布无统计学差异。结论CLEC16A基因多态性位点rs12921922、rs12931878与中国儿童T1DM遗传发病机制存在显著相关性。CLEC16A基因与中国儿童T1DM患者不同临床表现之间无显著相关性。
Objective To investigate the association between the CLEC16A gene and the susceptibility and clinical manifestations of type 1 diabetes mellitus (T1DM) in Chinese children. Methods A total of 131 unrelated T1DM children (T1DM group, both of whom were diagnosed as WHOT1DM in 1999) and genomic DNA from 121 unrelated adult healthy blood donors (healthy control group) ), 17 sites of single nucleotide polymorphism (SNPs) of CLEC16A gene were selected, and the correlation between CLEC16A gene and genetic susceptibility and clinical manifestations of T1DM in Chinese children were studied by using flight mass spectrometry. Among the 17 CLEC16ASNPs polymorphisms, only the frequencies of rs12921922 and rs12931878 alleles were significantly increased in T1DM group, and the frequencies of other alleles were not statistically different between T1DM group and healthy controls Differences The alleles of rs12921922 were C and T, in which the frequency of T allele was 90.8% in T1DM group and 85.0% in healthy control group, with statistical significance (P = 0.0440). The alleles of rs12931878 were A and C. The frequency of allele A was 90.1% in T1DM group and 84.0% in healthy control group, with statistical significance (P = 0.0435). There was no significant difference in the frequency distribution ofCLEC16A susceptibility genes in different clinical manifestations of T1DM in China.3. Conclusions The rs12921922 and rs12931878 polymorphisms of CLEC16A gene are significantly associated with the genetic pathogenesis of T1DM in Chinese children. CLEC16A gene and Chinese children with different clinical manifestations of T1DM no significant correlation.