School of Clinical Sciences, Bristol Eye Hospital, Bristol, United Kingdom.
Invest Ophthalmol Vis Sci. 2014 Apr 7;55(4):2115-20. doi: 10.1167/iovs.13-13681.
We investigated single nucleotide polymorphisms (SNPs) of thrombospondin-1 (TSP-1) on the risk of corneal allograft rejection. The TSP-1 is known to be involved in the immune response of the anterior chamber of the eye, activating TGF-β2, promoting peripheral and systemic tolerance, and counteracting the proangiogenic activity of VEGF.
Three tagging SNPs spanning the TSP-1 region (rs1478604, A>G; rs2228261, C>T; and rs2228262, A>G) were genotyped. Association with risk of rejection was investigated in a group of 378 corneal transplant recipients with risk factors for allograft rejection. Transplant recipients had completed 3-year follow-up.
The TSP-1 rs1478604 A SNP was associated significantly with an increased risk of corneal allograft rejection (odds ratio [OR], 1.58; 95% confidence interval [CI], 1.02-2.45; P = 0.04) and there was a trend toward the rs1478604, rs2228261, rs2228262 ACA haplotype increasing risk of rejection.
The results suggest that TSP-1 rs1478604 AA homozygotes may be at increased risk of corneal transplant rejection, especially if they carry the ACA haplotype.
我们研究了血小板反应蛋白-1（TSP-1）的单核苷酸多态性（SNPs）对角膜移植排斥反应的风险。已知 TSP-1 参与眼前房的免疫反应，激活 TGF-β2，促进外周和全身耐受，并对抗 VEGF 的促血管生成活性。
对跨越 TSP-1 区域的三个标签 SNP（rs1478604，A>G；rs2228261，C>T；和 rs2228262，A>G）进行基因分型。在一组 378 名具有移植排斥危险因素的角膜移植受者中，研究了与排斥风险的相关性。移植受者完成了 3 年的随访。
TSP-1 rs1478604 A 单核苷酸多态性与角膜移植排斥的风险增加显著相关（优势比[OR]，1.58；95%置信区间[CI]，1.02-2.45；P = 0.04），并且 rs1478604、rs2228261、rs2228262 ACA 单倍型有增加排斥风险的趋势。
结果表明，TSP-1 rs1478604 AA 纯合子可能增加角膜移植排斥的风险，尤其是如果它们携带 ACA 单倍型。
