目的 探讨Fas-1377G>A和FasL-844C>T基因多态性与昆明地区糖尿病视网膜病变(diabetic retinopathy,DR)的相关性。方法 采用聚合酶链反应(polymerase chain reaction,PCR)限制性片段长度多态性分析(restriction fragment length polymorphism, RFLP)技术对31例DR患者(病例组)和23例糖耐量正常的对照者(对照组)进行FAS-1377、FASL-844两个基因多态性检测基因型及等位基因频数分布。结果 fas-1377位点3种基因型AA、AG和GG在对照组研究对象中的频数分别为9.7％、54.8％和35.5％,在病例组的频数分别为13％、52.2％和34.8％,基因型频数分布组间比较差异无统计学意义(fisher=0.282,P=1.0);等位基因A和G在对照组中的频数分别为37.1％和62.9％,在病例组的频数分别为39.1％和60.9％,等位基因型频数分布组间比较差异无统计学意义(χ2=0.046,P=0.829)。fasL-844位点3种基因型CC、CT和TT在对照组研究对象中的频数分别为41.9％、45.2％和12.9％,在病例组的频数分别为60.9％、34.8％和4.3％,基因型频数分布组间比较差异无统计学意义(fisher=2.178,P=0.334);等位基因C和T在对照组中的频数分别为64.5％和35.5％,在病例组的频数分别为78.3％和21.7％,等位基因型频数分布组间比较差异无统计学意义(χ2=2.393,P=0.122)。用logistic回归分析4种模型, FasL-844基因携带T者患病例组风险可能升高,TC,TT,TC+TT,TOR值分别为1.885,4.308,2.154,1.980(P>0.05),无统计学意义。同时携带FAS-1377GG和FASL-844 CT/TT基因型的风险较同时携带FAS-1377GG和FASL-844CC基因型增加患DR发病风险(OR=1.143(95%CI=0.141-9.289);OR=0.343(95%CI=0.052-2.261);OR=2.286(95%CI=0.185-28.186),差异均无统计学意义。结论 Fas-1377、FasL-844基因多态性位点可能与昆明汉族DR易感性无相关性,可能不是该地区DR的常见遗传易感因素。
Abstract
Objective To investigate the association between polymorphisms of Fas promoter-1377 and FasL promoter-844 and diabetic retinopathy (DR) in Kunming Han populations.Methods Polymerase chain reaction (PCR)and restriction fragment length polymorphism(PCR-RFLP) analysis techniques were used to screen the distribution of the genotypic and allelic frequencies of the Fas-1377 and FASL-844 gene among 31 patients with diabetic retinopathy and 23 healthy controls with normal glucose tolerance.Results The frequencies of three genotypes-AA, AG and GG-at the Fas-1377 locus in the control group were 9.7%, 54.8% and 35.5%, respectively, compared to 13%, 52.2% and 34.8% respectively in the case group.There was no statistically significant difference in genotype frequency distribution between the two groups (fisher=0.282,P=1.0). Allele A and G frequency in the control group was 37.1% and 62.9% respectively, but was 39.1% and 60.9% respectively in the case group. There was no statistically significant difference between the two groups in allele frequency distribution (χ2=0.046,P=0.829). Allele frequencies of C and T in the control group were 64.5% and 35.5% respectively, compared with 78.3% and 21.7% in the case group. Logistic regression analysis of the four models suggested that FasL-844 gene T could increase the risk for diabetic retinopathy. The values of TC, TT, TC+TT and TOR were 1.885, 4.308, 2.154 and 1.980 respectively, P>0.05, so there was no statistically significant difference. At the same time,carrying FAS-1377 GG and FASL-844 CT/TT gene was more likely to increase the risk of diabetic retinopathy than carrying FAS-1377 CC genotype GG and FASL-844(OR=1.143 (95% CI=0.141-9.289); OR=0.343 (95% CI=0.052-2.261);OR=2.286 (95% CI=0.185-28.186), P values>0.05. Conclusions Neither Fas-1377 nor FasL-844 gene polymorphisms have any relationships with diabetic retinopathy in Kunming Han populations, and neither of them may be the susceptible gene of diabetic retinopathy.
关键词
糖尿病视网膜病变 /
Fas-1377 /
FasL-844 /
基因多态性
Key words
diabetic retinopathy /
Fas-1377 /
FasL-844 /
gene polymorphism
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