Vanathi Murugesan, Shukla Rashmi, Balakrishnan Prahlad, Dwivedi Roopa, Gupta Noopur, Tandon Radhika
Cornea, Ocular Surface, Cataract and Refractive Services, Dr R P Centre for Ophthalmic Sciences, New Delhi, India.
Department of Pediatric Genetics, All India Institute of Medical Sciences, New Delhi, India.
Indian J Ophthalmol. 2020 Apr;68(4):565-572. doi: 10.4103/ijo.IJO_552_19.
To evaluate the frequency and the association of Thrombospondin 1 (THBS1) gene single nucleotide polymorphisms (SNPs) in Asian Indian patients with optical full thickness corneal grafting surgery.
Prospective case-control analysis of optical penetrating keratoplasty patients with and without immune rejection and controls for genotyping of 3 THBS1 gene SNPs (rs1478604 A>G; rs2228261 C>T; rs2228262 A>G) by Amplification Refractory Mutation System-Polymerase Chain Reaction (ARMS PCR).
Among 58 patients [45 with immune allograft rejection (DNA isolation was possible in 38 samples) and 13 without immune corneal allograft rejection] and 65 controls, allele frequencies observed for rs1478604 (A>G) are A: 69.7% and 72.6%, G: 30.2% and 27.3%; for rs2228261 (C>T) are T: 70.2% and 62.3%, C: 29.7% and 37.6%; and for rs2228262 (A>G) A: 97.4% and 98.4%; G 2.5% and 1.5% respectively. Genotype frequencies were rs1478604 (A>G) AA: 57.8% and 59.3%, AG 23.6% and 26.5%; GG 18.4% and 14%; for rs2228261 (C>T) TT: 40.5% and 33.8%, TC: 59% and 56.9%, CC: 0% and 9.2%; for rs2228262 (A>G) AA: 94.8% and 96.8%, AG: 5.1% and 3.1% in rejection and controls respectively. The allele and genotype frequency for the 3 described THSB1 SNPs did not show any difference between the corneal graft immune rejection patients and controls.
Asian Indian population evaluated for THBS1 gene SNPs by ARMS PCR genotyping in Asian Indian population did not show any genetic association to immune rejection occurrence in our study.
评估亚洲印度裔患者接受光学全层角膜移植手术时血小板反应蛋白1（THBS1）基因单核苷酸多态性（SNP）的频率及相关性。
对有或无免疫排斥反应的光学穿透性角膜移植患者进行前瞻性病例对照分析，并通过扩增阻滞突变系统-聚合酶链反应（ARMS PCR）对3个THBS1基因SNP（rs1478604 A>G；rs2228261 C>T；rs2228262 A>G）进行基因分型。
在58例患者[45例发生免疫同种异体移植排斥反应（38份样本可进行DNA分离）和13例未发生免疫角膜同种异体移植排斥反应]及65例对照中，rs1478604（A>G）的等位基因频率分别为A：69.7%和72.6%，G：30.2%和27.3%；rs2228261（C>T）的等位基因频率分别为T：70.2%和62.3%，C：29.7%和37.6%；rs2228262（A>G）的等位基因频率分别为A：97.4%和98.4%，G：2.5%和1.5%。基因型频率分别为rs1478604（A>G）AA：57.8%和59.3%，AG：23.6%和26.5%，GG：18.4%和14%；rs2228261（C>T）TT：40.5%和33.8%，TC：59%和56.9%，CC：0%和9.2%；rs2228262（A>G）AA：94.8%和96.8%，AG：5.1%和3.1%，分别为排斥反应组和对照组。所描述的3个THSB1 SNP的等位基因和基因型频率在角膜移植免疫排斥患者和对照组之间未显示出任何差异。
在本研究中，通过ARMS PCR基因分型对亚洲印度裔人群进行THBS1基因SNP评估，未发现其与免疫排斥反应的发生存在任何遗传关联。
