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The association between toll-like receptor 4 polymorphisms and diabetic retinopathy in Chinese patients with type 2
Yuxin Xu1, Zhengxuan Jiang1, Jinhai Huang2
1Department of Ophthalmology, The Second Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
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 χ(2) 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.
Insights
Single-nucleotide polymorphisms (SNPs) in the toll-like receptor 4 (TLR4) gene are associated with type 2 diabetes mellitus and diabetic retinopathy (DR) susceptibility in the Han Chinese population. Specific SNPs, rs1927914 and rs1927911, show significant associations.
Area of Science:
- Genetics
- Ophthalmology
- Endocrinology
Background:
- Diabetic retinopathy (DR) is a microvascular complication of type 2 diabetes mellitus.
- Inflammation and impaired neovascularization contribute to DR development.
- Toll-like receptor 4 (TLR4) gene polymorphisms have been linked to DR.
Purpose of the Study:
- To investigate the association between single-nucleotide polymorphisms (SNPs) in the TLR4 gene and DR in a Chinese Han population.
- To determine if specific TLR4 SNPs are risk factors for type 2 diabetes mellitus (T2DM) and DR.
Main Methods:
- Genotyping of three TLR4 SNPs (rs10759931, rs1927911, rs1927914) using PCR-RFLP.
- Analysis of genomic DNA from T2DM patients and healthy controls.
- Statistical analysis using chi-squared tests.
Main Results:
- TLR4 polymorphisms rs1927914 and rs1927911 were associated with T2DM.
- The C allele of rs1927914 was significantly more frequent in T2DM patients and DR patients.
- Increased frequencies of CC genotype and C allele for rs1927911 were observed in T2DM patients.
Conclusions:
- The TLR4 gene SNPs rs1927914 and rs1927911 are associated with T2DM in the Han Chinese population.
- SNP rs1927914 is associated with susceptibility to DR.
- Further research may explore TLR4 as a therapeutic target for DR.
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