Dataset Information

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

ABSTRACT: 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. 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). 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). 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.

SUBMITTER: Berdynski M

PROVIDER: S-EPMC8745142 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Common <i>ALDH3A1</i> Gene Variant Associated with Keratoconus Risk in the Polish Population.

Berdyński Mariusz M Krawczyk Piotr P Safranow Krzysztof K Borzemska Beata B Szaflik Jacek P JP Nowakowska-Żawrocka Karolina K Żekanowski Cezary C Giebułtowicz Joanna J

Journal of clinical medicine 20211221 1

<h4>Background</h4>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 <i>ALDH3A1</i> locus is associated with keratoconus. In this study, we examined the potential role of <i>ALDH3A1</i> variants as risk factors for keratoconus incidence and severity in a large group of Polish keratoconus patients.<h4>Methods</h4>In the first stage we analyzed the coding region sequence ...[more]

PMID: 35011749

Similar Datasets

Project description:BACKGROUND: Breast cancer is the most common type of cancer and the second leading cause of cancer-death among women in Poland. The known high-risk mutations account for 25% of familial aggregation cases and 5% of total breast cancer predisposition. Genome-wide association studies have identified a number of common low-penetrance genetic variants, but their contribution to disease risk differs between populations. METHODS: To verify selected associations with breast cancer susceptibility among Polish women, the replication study was performed, included 1424 women with breast cancer and 1788 healthy persons. Sixteen single-nucleotide polymorphisms (SNPs) were analyzed using TaqMan SNP Genotyping Assays. Allele frequency differences were tested using chi2-test implemented in PLINK v1.07 and Cochran-Armitage trend test was performed using R software. RESULTS: Significant differences (Bonferroni corrected p-valuecor ? 0.0197) in the frequency of alleles distribution between all cancer and control subjects were observed for four (rs2736098, rs13281615, rs1219648, rs2981582) out of 16 SNPs. The same result was obtained for group of patients without high-risk BRCA1/2 mutations. The rs1219648 (p-valuecor ? 6.73E-03) and rs2981582 (p-valuecor ? 6.48E-03) SNPs showed significant association with both familial and sporadic cancers. Additionally, rs2736098 (p-valuecor ? 0.0234) was associated with only sporadic cancers; also in group without carriers of high-risk mutation. All these associations revealed their significance also in Cochran-Armitage trend test. Opposite to other SNPs, rs2736098 was associated with a decreased risk of breast cancer. CONCLUSION: The association of four known susceptibility SNPs, representing three individual loci, with breast cancer risk in Polish women was confirmed. One of them (rs2736098) seems to be specific for the Polish population. Due to the population differences in allele frequencies, identification of general genetic risk factors requires sets of association studies conducted on different populations.

Dataset Information

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

Publications

Common <i>ALDH3A1</i> Gene Variant Associated with Keratoconus Risk in the Polish Population.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets