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.

Autor: Choręziak-Michalak A; Department of Ophthalmology, Poznan University of Medical Sciences, ul. Augustyna Szamarzewskiego 84, 61-848 Poznan, Poland., Szpecht D; Department of Neonatology, Poznan University of Medical Sciences, ul. Polna 33, 60-535 Poznan, Poland., Chmielarz-Czarnocińska A; Department of Ophthalmology, Poznan University of Medical Sciences, ul. Augustyna Szamarzewskiego 84, 61-848 Poznan, Poland., Seremak-Mrozikiewicz A; Department of Perinatology and Women's Diseases, Poznan University of Medical Sciences, ul. Polna 33, 60-535 Poznan, Poland., Drews K; Department of Perinatology and Women's Diseases, Poznan University of Medical Sciences, ul. Polna 33, 60-535 Poznan, Poland., Kurzawińska G; Department of Perinatology and Women's Diseases, Poznan University of Medical Sciences, ul. Polna 33, 60-535 Poznan, Poland., Strauss E; Institute of Human Genetics, Polish Academy of Sciences, ul. Strzeszynska 32, 60-479 Poznan, Poland., Gotz-Więckowska A; Department of Ophthalmology, Poznan University of Medical Sciences, ul. Augustyna Szamarzewskiego 84, 61-848 Poznan, Poland.
Jazyk: angličtina
Zdroj: International journal of molecular sciences [Int J Mol Sci] 2023 Oct 18; Vol. 24 (20). Date of Electronic Publication: 2023 Oct 18.
DOI: 10.3390/ijms242015309
Abstrakt: This study was designed to investigate the relationship between variants of matrix metalloproteinases ( MMP -1 rs179975, MMP -9 rs17576 and rs17577), their tissue inhibitors ( TIMP -1 rs4898, TIMP -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 MMP -1 rs179975 1G deletion allele and ROP was observed in the log-additive model (OR = 5.01; p = 0.048). Furthermore, female neonates were observed to have a negative association between the TIMP-1 rs4898C allele and the occurrence of ROP and ROP requiring treatment (codominant models with respective p -values < 0.05 and 0.043). Two and three loci interactions between MMP -1 rs1799750 and TIMP1rs4989 ( p = 0.015), as well as MMP -1 rs1799750, MMP -9 rs17576 and TIMP - 1 rs4989 ( p = 0.0003) variants influencing the ROP risk were also observed. In conclusion, these findings suggest a potential role of MMPs and TIMPs 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.
Databáze: MEDLINE
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