Association of ACE and AGTR1 variants with retinopathy of prematurity: a case–control study and meta-analysis DOI Creative Commons
Anna Durska,

Dawid Szpecht,

Anna Gotz‐Więckowska

et al.

Journal of Applied Genetics, Journal Year: 2024, Volume and Issue: unknown

Published: Aug. 26, 2024

Abstract Retinopathy of prematurity (ROP) is a major cause childhood blindness worldwide, linked to gene variants in the renin–angiotensin–aldosterone system, including angiotensin-converting enzyme ( ACE ) and angiotensin II receptor type 1 AGTR1 ). This study aims evaluate association between insertion/deletion (I/D) rs5186A > C with occurrence progression ROP Polish cohort. A total 377 premature infants were enrolled study. The variant was evaluated using PCR, assessed TaqMan probes. Clinical characteristics, risk factors comorbidities, documented. meta-analysis effects studied on also conducted. rs5186C allele significantly associated both treatment outcomes. Homozygotes exhibited 2.47-fold increased developing proliferative 4.82-fold failure. impact this at low birth weight. meta-analysis, 191 cases 1661 controls, indicated an overall 1.7 (95%CI 1.02–2.84) for recessive effect allele. did not show significant our population; however, 996 2787 controls suggested insertion (an odds ratio 1.21 1.00–1.60)). These results indicate that gain-of-function may play crucial role development ROP, potentially by promoting angiogenesis pro-inflammatory effects. Screening these could facilitate personalized assessment strategies ROP.

Language: Английский

Association of ACE and AGTR1 variants with retinopathy of prematurity: a case–control study and meta-analysis DOI Creative Commons
Anna Durska,

Dawid Szpecht,

Anna Gotz‐Więckowska

et al.

Journal of Applied Genetics, Journal Year: 2024, Volume and Issue: unknown

Published: Aug. 26, 2024

Abstract Retinopathy of prematurity (ROP) is a major cause childhood blindness worldwide, linked to gene variants in the renin–angiotensin–aldosterone system, including angiotensin-converting enzyme ( ACE ) and angiotensin II receptor type 1 AGTR1 ). This study aims evaluate association between insertion/deletion (I/D) rs5186A > C with occurrence progression ROP Polish cohort. A total 377 premature infants were enrolled study. The variant was evaluated using PCR, assessed TaqMan probes. Clinical characteristics, risk factors comorbidities, documented. meta-analysis effects studied on also conducted. rs5186C allele significantly associated both treatment outcomes. Homozygotes exhibited 2.47-fold increased developing proliferative 4.82-fold failure. impact this at low birth weight. meta-analysis, 191 cases 1661 controls, indicated an overall 1.7 (95%CI 1.02–2.84) for recessive effect allele. did not show significant our population; however, 996 2787 controls suggested insertion (an odds ratio 1.21 1.00–1.60)). These results indicate that gain-of-function may play crucial role development ROP, potentially by promoting angiogenesis pro-inflammatory effects. Screening these could facilitate personalized assessment strategies ROP.

Language: Английский

Citations

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