【摘要】：目的:檢測中國北方漢族人群是否存在TNF-α-863C/A、TNF-α-1031T/C、TNF-α-238G/A基因多態(tài)性,研究其與甲狀腺相關(guān)眼病(thyroid associated ophthalmopathy,TAO)及疾病嚴(yán)重程度的相關(guān)性。方法:納入研究對象464人,健康對照組152人,Graves'病無眼征組158人,TAO組154人。TAO組分為輕度52人,中重度55人,危及視力47人。采集外周抗凝血,磁珠法提取基因組DNA,TaqMan-MGB探針實時熒光定量PCR法檢測每位研究對象3個位點(diǎn)的基因型。用卡方檢驗對數(shù)據(jù)進(jìn)行統(tǒng)計學(xué)分析,Bonferroni法校正P值。結(jié)果:464 例研究對象中存在 TNF-α-863C/A、TNF-α-1031T/C、TNF-α-238G/A基因多態(tài)性。TNF-α-863C/A:中重度+危及視力TAO組AC+AA基因型頻率高于健康組(Pc0.05),高于輕度TAO組(P0.05);中重度+危及視力TAO組等位基因A頻率高于健康組(Pc0.05);男性GD無眼征+輕度TAO組等位基因A頻率高于男性健康組(Pc0.05)。TNF-α-1031T/C:中重度+危及視力TAO組CT+CC基因型頻率高于健康對照組、高于GD無眼征+輕度TAO組((Pc0.05))。危及視力TAO組CT+CC基因型頻率高于輕度TAO組(Pc0.05),中重度+危及視力TAO組CT+CC基因型頻率高于輕度TAO組(P0.05)。男性中重度+危及視力TAO組CT+CC基因型頻率高于男性健康組(Pc0.05)。TNF-α-238G/A基因型、等位基因頻率在組間分布差異無統(tǒng)計學(xué)意義。結(jié)論:中國北方漢族人群存在 TNF-α-863C/A、TNF-α-1031T/C、TNF-α-238G/A基因多態(tài)性。TNF-α-863C/A、TNF-α-1031T/C基因多態(tài)性與TAO的發(fā)病及疾病嚴(yán)重程度有相關(guān)性。TNF-α-863C/A、TNF-α-1031T/C可能是中國北方漢族人群TAO患者易感基因位點(diǎn)。TNF-α-238G/A基因多態(tài)性與中國北方漢族人群TAO的發(fā)病無關(guān)聯(lián)。
[Abstract]:Aim: to detect the polymorphism of TNF- 偽-863C, TNF偽-1031T and TNF偽-238G/A genes in northern Chinese Han population, and to study the relationship between TNF偽-TNFA gene polymorphism and thyroid-associated ophthalmopathy (thyroid associated ophthalmopathy,TAO) and the severity of thyroid-associated ophthalmopathy (TNF偽-1031T). Methods: 464 subjects were included in the study, 152in healthy control group, 158in Graves' 's disease without eyesight group and 154in TAO group. TAO group was divided into mild group (n = 52), moderate and severe group (n = 55), endangering visual acuity (n = 47). Peripheral anticoagulation was collected and genomic DNA,TaqMan-MGB probe was extracted by magnetic beads to detect the genotype of 3 loci in each subject by real-time fluorescence quantitative PCR. Chi-square test was used to analyze the data and Bonferroni method was used to correct the P value. Results: TNF- 偽-863C 鈮，

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