To report the results of an association study between single-nucleotide polymorphisms of the p53 and LTA genes and the risk of proliferative vitreoretinopathy (PVR)/retinal detachment (RD) in a Mexican cohort.
A total of 380 unrelated subjects were studied, including 98 patients with primary rhegmatogenous RD without PVR, 82 patients with PVR after RD surgery, and 200 healthy, ethnically matched subjects. Genotyping of single-nucleotide polymorphisms rs1042522 (p53 gene) and rs2229094 (LTA gene) was performed by direct nucleotide sequencing. Allele frequencies, genotype frequencies, and Hardy–Weinberg equilibrium were assessed with HaploView software.
No significant differences in the allelic distributions of the previously identified risk C allele for LTA rs2229094 were observed between RD subjects and controls (odds ratio [95% confidence interval] = 0.8 [0.5–1.2]; P = 0.3). Conversely, the C allele for rs1042522 in p53 was positively associated with an increased risk for RD (odds ratio [95% confidence interval] = 1.4 [1.01–1.9]; P = 0.04). No significant differences were observed when the subgroup of 82 RD + PVR subjects was compared with the subgroup of 98 patients with RD.
The C allele for rs1042522 in p53 was genetically associated with a higher risk for RD but not for PVR in this cohort. This is the first association study attempting replication of PVR-associated risk alleles in a nonwhite population.
Polymorphisms in LTA and p53 genes have been previously associated with the risk of proliferative vitreoretinopathy. Here, the first replicative study in a nonwhite population is presented, and the authors' results indicate that a p53 rs1042522 allele is associated with an elevated retinal detachment risk but not with a proliferative vitreoretinopathy risk.
*Department of Genetics, Institute of Ophthalmology “Conde de Valenciana,” Mexico City, Mexico;
†Department of Genetics, Instituto Nacional de Rehabilitación, Mexico City, Mexico;
‡Unit of Biochemistry ITO-UNAM, Oaxaca, Oaxaca, Mexico;
§Department of Retina, Institute of Ophthalmology “Conde de Valenciana,” Mexico City, Mexico; and
¶Biochemistry Department, Faculty of Medicina, UNAM, Mexico City, Mexico.
Reprint requests: Juan C. Zenteno, MD, PhD, Genetics Department, Institute of Ophthalmology “Conde de Valenciana,” Chimalpopoca 14, Col. Obrera, Cuauhtemoc 06800, Mexico City, Mexico; e-mail: email@example.com
Supported in part by a Conacyt grant 234413 (J.C.Z.).
None of the authors has any conflicting interests to disclose.