| 苏丹丹,王春红,夏璐,等.Toll样受体 4基因单核苷酸多态性与白内障发病的相关性研究[J].安徽医药,2024,28(1):177-180. |
| Toll样受体 4基因单核苷酸多态性与白内障发病的相关性研究 |
| Correlation of single nucleotide polymorphisms in the toll-like receptor 4 gene with cataract development |
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| DOI：10.3969/j.issn.1009-6469.2024.01.037 |
| 中文关键词: 白内障 Toll样受体 4 多态性，单核苷酸 白细胞介素 -6 肿瘤坏死因子 α rs4986790 rs4986791 |
| 英文关键词: Cataract Toll-like receptor 4 Polymorphism, single nucleotide Interleukin-6 Tumor necrosis factor-alpha rs4986790 rs4986791 |
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| 中文摘要: |
| 目的研究 Toll样受体 4(TLR4)基因单核苷酸多态性( SNPs)与白内障发病的相关性。方法收集皖南医学院第二附属医院 2021年 1—12月 100例年龄相关性白内障( ARC)病例为观察组， 86例年龄、性别相匹配的无亲属关系的健康志愿者为对照组，采用单碱基延伸法( SNaPshot)对 TLR4两个 SNPs位点 rs4986790及 rs4986791进行基因分型，检验两组 2个 SNPs基因型与等位基因频率，分离被研究对象外周血单个核细胞( PBMC)，酶联免疫吸附法( ELISA)检测其 PBMC上清液中肿瘤坏死因子-α(TNF-α)及白细胞介素 -6(IL-6)水平，分析其与 ARC病人 TLR4基因 SNPs之间的关系。结果 Hardy-Weinberg平衡试验结果提示，两组病人 TLR4基因 rs7986790位点及 rs4986791位点的基因型频率分布实际值与理论值符合 Hardy-Weinberg遗传平衡( P>0.05)；观察组与对照组 TLR4基因 rs7986790位点基因型及其等位基因占比比较，差异有统计学意义( P<0.05)。 rs7986790基因分型为 GA及 GG者 PBMC上清液中 TNF-α及 IL-6水平［( 22.36±4.15)μg/L、(846.69±179.68)ng/L］均高于基因型为 AA者［(17.02±2.36)μg/L、(613.45±163.59)ng/L］(P<0.05)。结论 ARC病人 TLR4基因 rs7986790位点基因型分布与正常者间存在差异， rs7986790位点等位基因 G可能通过促进炎症反应，增加 ARC患病风险。 |
| 英文摘要: |
| Objective To investigate the correlation of single nucleotide polymorphisms (SNPs) in the Toll-like receptor 4 (TLR4) gene with cataract development. Methods A total of 100 age-related cataract (ARC) cases were collected from January to December 2021from the Second Affiliated Hospital of Wannan Medical College as the observation group and 86 age-and gender-matched unrelated healthy volunteers as the control group. A single nucleotide extension assay (SNaPshot) was used to perform genotyping of the two SNP lo-ci of TLR4, rs4986790 and rs4986791, and the genotypes and allele frequencies of the two SNPs in the two groups were examined. Periph-eral blood mononuclear cells (PBMCs) of the studied subjects were isolated. Enzyme-linked immunosorbent assay (ELISA) was used to measure the levels of tumor necrosis factor-α (TNF-α) and interleukin-6 (IL-6) in the supernatant of PBMCs, and to analyze their relation- ship with SNPs of the TLR4 gene in ARC patients.Results The results of the Hardy-Weinberg equilibrium test indicated that the actualand theoretical values of the genotype frequency distribution of the TLR4 gene rs7986790 locus and rs4986791 locus in the two groups ofpatients conformed to the Hardy-Weinberg genetic equilibrium (P > 0.05). There was a statistically significant difference between thegenotype of the rs7986790 locus of the TLR4 gene and its allele percentage in the observation group compared with the control group (P < 0.05). The levels of TNF-α and IL-6 in the PBMC supernatants of those with rs7986790 genotyped as GA and GG [(22.36±4.15) μg/L,(846.69±179.68) ng/L] were higher than those with genotyped as AA [(17.02±2.36) μg/L, (613.45±163.59) ng/L](P < 0.05).Conclusions There is a difference in the genotype distribution of the rs7986790 locus in the TLR4 gene between ARC patients and normal individuals,and allele G of the rs7986790 locus may increase the risk of developing ARC by promoting inflammatory responses. |
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