Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow, UP, 226014, India.
Inflamm Res. 2011 Apr;60(4):399-407. doi: 10.1007/s00011-010-0284-3. Epub 2010 Dec 4.
Genetic polymorphisms of chemokines and their receptors were reported to be independent risk factors for inflammation associated disease. We explored the role of CCR5-Δ32, CCR5-G59029A, CX3CR1 V249I and T280M gene polymorphisms as susceptibility for end stage renal disease (ESRD).
We genotyped 258 ESRD and 569 healthy controls by sequence-specific primers and RFLP and examined their association.
There was significant difference in genotype frequencies of CCR5-G59029A (p = 0.005), and CX3CR1 V249I (p < 0.0001) between ESRD and controls. No homozygous individuals were observed for CCR5-Δ32. The haplotype analysis of all four studied genes reveled that haplotype +/A/T/I was more significant in patients and associated with higher risk (OR = 2.95) of ESRD. Further, the haplotype of CX3CR1 (T280M, V249I) gene showed 3.6-fold higher in an individual carrying T/I haplotype. No risk was seen for CCR5 haplotypes.
These results highlight the role of CCR5 and CX3CR1 in ESRD.
趋化因子及其受体的遗传多态性被报道为与炎症相关疾病的独立危险因素。我们探讨了 CCR5-Δ32、CCR5-G59029A、CX3CR1 V249I 和 T280M 基因多态性作为终末期肾病（ESRD）易感性的作用。
我们通过序列特异性引物和 RFLP 对 258 名 ESRD 和 569 名健康对照者进行了基因分型，并检测了它们的相关性。
ESRD 组和对照组之间 CCR5-G59029A（p = 0.005）和 CX3CR1 V249I（p < 0.0001）的基因型频率存在显著差异。未观察到 CCR5-Δ32 的纯合个体。对所有四个研究基因的单倍型分析表明，+/A/T/I 单倍型在患者中更为显著，与 ESRD 的更高风险（OR = 2.95）相关。此外，携带 T/I 单倍型的个体中 CX3CR1（T280M，V249I）基因的单倍型增加了 3.6 倍。CCR5 单倍型没有风险。
这些结果强调了 CCR5 和 CX3CR1 在 ESRD 中的作用。
