The association between toll-like receptor 4 polymorphisms and diabetic retinopathy in Chinese patients with type 2 diabetes
The association between toll-like receptor 4 polymorphisms and diabetic retinopathy in Chinese patients with type 2 diabetes
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DOI：
10.1136/bjophthalmol-2015-306677
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发表时间：
2015-05
影响因子：
4.1
通讯作者：
Yuxin Xu;Zhengxuan Jiang;Jinhai Huang;Q. Meng;P. Coh;L. Tao
中科院分区：
文献类型：
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作者：
Yuxin Xu;Zhengxuan Jiang;Jinhai Huang;Q. Meng;P. Coh;L. Tao
目的糖尿病视网膜病变（diabetic retinopathy，DR）是2型糖尿病的继发性微血管并发症之一.持续性炎症和受损的新生血管可能是DR发展的重要因素。最近的一项研究表明，Toll样受体4（TLR 4）多态性与DR相关。本研究旨在确定TLR 4基因的单核苷酸多态性（SNP）是否与中国汉族人群的DR相关。材料与方法选择TLR 4基因上的3个SNPs（rs 10759931、rs 1927911和rs 1927914）作为候选SNPs。通过PCR限制性片段长度多态性分析，对2型糖尿病患者和健康对照者的基因组DNA进行上述遗传变异的基因分型。资料采用χ2分析。结果TLR 4基因3个多态性位点在冠心病组和对照组均处于Hardy-Weinberg平衡状态。2型糖尿病组rs 1927914 C等位基因频率显著高于对照组。结果表明，2型糖尿病患者rs 1927914位点TT基因型和T等位基因频率明显降低。在2型糖尿病患者中观察到rs 1927911的CC基因型和C等位基因频率显著增加。DR组rs 1927914的C等位基因频率较对照组明显增高。DR组rs 1927911基因CC型和C等位基因频率均高于对照组。然而，当应用Bonferroni校正时，没有发现差异。在所有单倍型方面，患者和对照组之间没有检测到差异。结论rs 1927914和rs 1927911与2型糖尿病相关，rs 1927914与中国汉族人群DR易感性相关。
Purpose Diabetic retinopathy (DR) is one of the secondary microvascular complications of type 2 diabetes mellitus. Persistent inflammation and impaired neovascularisation may be important contributors to the development of DR. A recent study showed that toll-like receptor 4 (TLR4) polymorphisms were associated with DR. The present study was designed to determine whether single-nucleotide polymorphisms (SNPs) in the TLR4 gene were associated with DR in a Chinese Han population. Materials and methods Three SNPs (rs10759931, rs1927911 and rs1927914) in the TLR4 gene were chosen as candidate SNPs. Genomic DNA from type 2 diabetes patients and healthy controls were genotyped for the above-mentioned genetic variations through the use of PCR restriction fragment length polymorphism assay. Data were analysed by χ2 analysis. Results The results showed that the three analysed polymorphisms in the TLR4 gene were in Hardy–Weinberg equilibrium, both in the patients and in the controls. In the type 2 diabetes group, a significantly higher frequency of the C allele of rs1927914 was observed in patients with type 2 diabetes than that in controls. The result showed that the frequencies of the TT genotype and the T allele of rs1927914 were significantly decreased in patients with type 2 diabetes. Significantly increased frequencies of the CC genotype and the C allele of rs1927911 were observed in patients with type 2 diabetes. In the DR group, the C allele of rs1927914 was significantly increased in the DR group compared with that of the control. The frequencies of the CC genotype and the C allele of rs1927911 tended to be higher in patients with DR than in the healthy controls. However, no difference was found when the Bonferroni correction was applied. No difference was detected between patients and controls with regard to all haplotypes. Conclusions This study suggested that rs1927914 and rs1927911 were associated with type 2 diabetes mellitus and that rs1927914 was associated with susceptibility to DR in a Han Chinese population.