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Common ALDH3A1 Gene Variant Associated with Keratoconus Risk in the Polish Population

Background: ALDH3A1 protein is important in maintaining corneal physiology and protecting the eye from UV damage. However, none of the genome-wide association studies has indicated that the ALDH3A1 locus is associated with keratoconus. In this study, we examined the potential role of ALDH3A1 variant...

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Autores principales: Berdyński, Mariusz, Krawczyk, Piotr, Safranow, Krzysztof, Borzemska, Beata, Szaflik, Jacek P., Nowakowska-Żawrocka, Karolina, Żekanowski, Cezary, Giebułtowicz, Joanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8745142/
https://www.ncbi.nlm.nih.gov/pubmed/35011749
http://dx.doi.org/10.3390/jcm11010008
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author Berdyński, Mariusz
Krawczyk, Piotr
Safranow, Krzysztof
Borzemska, Beata
Szaflik, Jacek P.
Nowakowska-Żawrocka, Karolina
Żekanowski, Cezary
Giebułtowicz, Joanna
author_facet Berdyński, Mariusz
Krawczyk, Piotr
Safranow, Krzysztof
Borzemska, Beata
Szaflik, Jacek P.
Nowakowska-Żawrocka, Karolina
Żekanowski, Cezary
Giebułtowicz, Joanna
author_sort Berdyński, Mariusz
collection PubMed
description Background: ALDH3A1 protein is important in maintaining corneal physiology and protecting the eye from UV damage. However, none of the genome-wide association studies has indicated that the ALDH3A1 locus is associated with keratoconus. In this study, we examined the potential role of ALDH3A1 variants as risk factors for keratoconus incidence and severity in a large group of Polish keratoconus patients. Methods: In the first stage we analyzed the coding region sequence of the ALDH3A1 in a subgroup of keratoconus. Then, we genotyped three selected ALDH3A1 variants in a larger KC group of patients (n = 261) and healthy controls (n = 317). Results: We found that the rs1042183 minor allele A is a risk factor for keratoconus in the dominant model (OR = 2.06, 95%CI = 1.42–2.98, p = 0.00013). The rs2228100 variant genotypes appear to be associated with an earlier age of KC diagnosis in the Polish population (p = 0.055 for comparison of three genotypes and p = 0.022 for the dominant inheritance model). Conclusions: The rs1042183 variant in ALDH3A1 is associated with keratoconus risk in the Polish population. The differences in the allele frequency between both populations could be partially responsible for the difference in the disease prevalence.
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spelling pubmed-87451422022-01-11 Common ALDH3A1 Gene Variant Associated with Keratoconus Risk in the Polish Population Berdyński, Mariusz Krawczyk, Piotr Safranow, Krzysztof Borzemska, Beata Szaflik, Jacek P. Nowakowska-Żawrocka, Karolina Żekanowski, Cezary Giebułtowicz, Joanna J Clin Med Article Background: ALDH3A1 protein is important in maintaining corneal physiology and protecting the eye from UV damage. However, none of the genome-wide association studies has indicated that the ALDH3A1 locus is associated with keratoconus. In this study, we examined the potential role of ALDH3A1 variants as risk factors for keratoconus incidence and severity in a large group of Polish keratoconus patients. Methods: In the first stage we analyzed the coding region sequence of the ALDH3A1 in a subgroup of keratoconus. Then, we genotyped three selected ALDH3A1 variants in a larger KC group of patients (n = 261) and healthy controls (n = 317). Results: We found that the rs1042183 minor allele A is a risk factor for keratoconus in the dominant model (OR = 2.06, 95%CI = 1.42–2.98, p = 0.00013). The rs2228100 variant genotypes appear to be associated with an earlier age of KC diagnosis in the Polish population (p = 0.055 for comparison of three genotypes and p = 0.022 for the dominant inheritance model). Conclusions: The rs1042183 variant in ALDH3A1 is associated with keratoconus risk in the Polish population. The differences in the allele frequency between both populations could be partially responsible for the difference in the disease prevalence. MDPI 2021-12-21 /pmc/articles/PMC8745142/ /pubmed/35011749 http://dx.doi.org/10.3390/jcm11010008 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Berdyński, Mariusz
Krawczyk, Piotr
Safranow, Krzysztof
Borzemska, Beata
Szaflik, Jacek P.
Nowakowska-Żawrocka, Karolina
Żekanowski, Cezary
Giebułtowicz, Joanna
Common ALDH3A1 Gene Variant Associated with Keratoconus Risk in the Polish Population
title Common ALDH3A1 Gene Variant Associated with Keratoconus Risk in the Polish Population
title_full Common ALDH3A1 Gene Variant Associated with Keratoconus Risk in the Polish Population
title_fullStr Common ALDH3A1 Gene Variant Associated with Keratoconus Risk in the Polish Population
title_full_unstemmed Common ALDH3A1 Gene Variant Associated with Keratoconus Risk in the Polish Population
title_short Common ALDH3A1 Gene Variant Associated with Keratoconus Risk in the Polish Population
title_sort common aldh3a1 gene variant associated with keratoconus risk in the polish population
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8745142/
https://www.ncbi.nlm.nih.gov/pubmed/35011749
http://dx.doi.org/10.3390/jcm11010008
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