【摘要】：目的探討鋅轉(zhuǎn)運(yùn)蛋白-8基因(SLC30A8)的4個(gè)單核苷酸多態(tài)性(SNP)位點(diǎn)與維吾爾族T2DM的關(guān)聯(lián),以及SNP位點(diǎn)間交互作用對(duì)T2DM易感性的影響。方法選取維吾爾族T2DM患者(病例組)和健康體檢者(對(duì)照組),各932名。通過(guò)體格及生化檢查獲得臨床資料,并進(jìn)行SLC30A8基因多態(tài)性檢測(cè)。結(jié)果 SLC30A8基因的4個(gè)SNP中,rs13266634基因型頻率、等位基因頻率分布在調(diào)整協(xié)變量前后,組間比較差異均有統(tǒng)計(jì)學(xué)意義(P0.05);rs13266634的風(fēng)險(xiǎn)等位基因?yàn)镃[P0.05,OR(95%CI):1.186(1.031~1.364)];SLC30A8基因模型分析顯示,調(diào)整協(xié)變量后,兩組rs13666334的加性模型[OR(95%CI):0.841(0.722~0.980)]、rs3802177的顯性基因模型[OR(95%CI):0.621(0.338~0.995)]、rs3802177-rs13266634單倍型(T-T)[OR(95%CI):0.846(0.734~0.976)]比較,差異有統(tǒng)計(jì)學(xué)意義(P0.05);廣義多因子降維法(GMDR)分析顯示,各SNP位點(diǎn)間協(xié)變量調(diào)整前后均無(wú)交互作用(P0.05)。結(jié)論SLC30A8基因rs13666334、rs3802177與維吾爾族T2DM的易感性有關(guān),且rs13666334位點(diǎn)的突變呈保護(hù)作用,其風(fēng)險(xiǎn)等位基因C有累加性,rs3802177-rs13266634單倍型(T-T)可能是維吾爾族T2DM的保護(hù)因素之一。
[Abstract]:Objective to investigate the association of four single nucleotide polymorphisms (SNP) of zinc transporter gene (SLC30A8) with T2DM in Uygur nationality and the effect of interaction between SNP loci on susceptibility to T2DM. Methods 932 Uygur T2DM patients (case group) and healthy controls (control group) were selected. The clinical data were obtained by physical and biochemical examination, and the polymorphism of SLC30A8 gene was detected. Results the genotype frequency and allele frequency of rs13266634 in four SNP of SLC30A8 gene were significantly different before and after covariate adjustment (P0.05). The risk allele of rs13266634 was C [P0.05OR (95%CI): 1.186 (1.031 / 1.364)]. The additive model of rs13666334 [OR (95%CI): 0.841 (0.722 / 0.980)] OR (95%CI): 0.621 (0.3380.95)] rs3802177-rs13266634 haplotype (T-T) [OR (95%CI) 0.846 (0.7340.9976)] was significantly different (P0.05), and generalized multivariate reduction (GMDR) analysis showed that there was no interaction between SNP loci before and after adjustment (P0.05). Conclusion the SLC30A8 gene rs13666334rs3802177 is associated with the susceptibility of T2DM in Uygur nationality, and the mutation of rs13666334 site is protective. The risk allele C of rs3802177-rs13266634 haplotype (T-T) may be one of the protective factors of Uygur T2DM.
【作者單位】： 新疆醫(yī)科大學(xué)第一附屬醫(yī)院 臨床醫(yī)學(xué)研究院新疆代謝性疾病重點(diǎn)實(shí)驗(yàn)室;烏魯木齊市沙依巴克區(qū)疾病預(yù)防控制中心;新疆醫(yī)科大學(xué)第一附屬醫(yī)院內(nèi)分泌科;新疆醫(yī)科大學(xué)公共衛(wèi)生學(xué)院;新疆醫(yī)科大學(xué)第一附屬醫(yī)院感染管理科;
【基金】：國(guó)家重點(diǎn)基礎(chǔ)研究發(fā)展計(jì)劃(973計(jì)劃)(2012CB722403) 新疆重大疾病醫(yī)學(xué)重點(diǎn)實(shí)驗(yàn)室開(kāi)放課題(SKLIB-XJMDR-2014-Y4、SKLIB-XJMDR-2015Y7) 新疆研究生科研創(chuàng)新基金(XJGRI2013083) 新疆醫(yī)科大學(xué)第一附屬醫(yī)院院內(nèi)科研基金(2013ZRQN18)
【分類號(hào)】：R587.1

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