Comprehensive Analysis of the Role of Gene Variants in Matrix Metalloproteinases and Their Tissue Inhibitors in Retinopathy of Prematurity: A Study in the Polish Population.

This study was designed to investigate the relationship between variants of matrix metalloproteinases (-1 rs179975, -9 rs17576 and rs17577), their tissue inhibitors (-1 rs4898, -2 rs2277698 and rs55743137) and the development of retinopathy of prematurity (ROP) in infants from the Polish population. A cohort of 100 premature infants (47% female) was enrolled, including 50 ROP cases and 50 no-ROP controls. Patients with ROP were divided into those with spontaneous remission and those requiring treatment. A positive association between -1 rs179975 1G deletion allele and ROP was observed in the log-additive model (OR = 5.01; = 0.048). Furthermore, female neonates were observed to have a negative association between the rs4898C allele and the occurrence of ROP and ROP requiring treatment (codominant models with respective -values < 0.05 and 0.043). Two and three loci interactions between -1 rs1799750 and ( = 0.015), as well as -1 rs1799750, -9 rs17576 and - rs4989 ( = 0.0003) variants influencing the ROP risk were also observed. In conclusion, these findings suggest a potential role of and genetic variations in the development of ROP in the Polish population. Further studies using a larger group of premature infants will be required for validation.