Dataset Information

CLU Polymorphisms in Patients with Pseudoexfoliation Syndrome in Polish Population.

ABSTRACT: Purpose:To evaluate CLU polymorphisms in patients with pseudoexfoliation syndrome. Materials and Methods:We studied 81 patients (23 males and 58 females, the median age 76?years) and 91 control subjects (27 males and 64 females, the median age 75?years). Genotypes of the CLU polymorphisms (SNPs), rs3087554 and rs2279590, were determined using a commercially available validated genotyping assays. The ? 2 test was performed to compare patient and control groups for possible associations between SNP genotype/allele frequency and disease state. Results:There were no significant differences for both allele and genotype frequencies between PEX patients and controls for rs3087554 and rs2279590 polymorphisms. The haplotypes distribution shows statistically significant difference between groups (p=0.03). The haplotype (CT) more often was found in controls than in PEX patients, conferring an 18-fold decreased risk to the disease. Conclusion:Our results indicate that CLU variants may contribute to the risk of PEX in the Polish population.

SUBMITTER: Lesiewska H

PROVIDER: S-EPMC6636577 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Publications

<i>CLU</i> Polymorphisms in Patients with Pseudoexfoliation Syndrome in Polish Population.

Lesiewska Hanna H Linkowska Katarzyna K Stafiej Joanna J Grzybowski Tomasz T Swobodziński Jacek J Malukiewicz Grażyna G

Journal of ophthalmology 20190701

<h4>Purpose</h4>To evaluate <i>CLU</i> polymorphisms in patients with pseudoexfoliation syndrome.<h4>Materials and methods</h4>We studied 81 patients (23 males and 58 females, the median age 76 years) and 91 control subjects (27 males and 64 females, the median age 75 years). Genotypes of the <i>CLU</i> polymorphisms (SNPs), rs3087554 and rs2279590, were determined using a commercially available validated genotyping assays. The <i>χ</i> <sup>2</sup> test was performed to compare patient and cont ...[more]

PMID: 31341659

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Project description:PurposeTo evaluate genes involved in homocysteine metabolism as secondary risk factors for pseudoexfoliation syndrome (PXFS) and the associated glaucoma (PXFG).MethodsOne hundred eighty-six unrelated patients with PXFS, including 140 patients with PXFG and 127 unrelated control subjects were recruited from the Massachusetts Eye and Ear Infirmary. All the patients and controls were Caucasian of European ancestry. Seventeen tag SNPs from 5 genes (methylenetetrahydrofolate reductase [MTHFR], methionine synthase [MTR], methionine synthase reductase [MTRR], methylenetetrahydrofolate dehydrogenase [MTHFD1], and cystathionine beta-synthase [CBS]) were genotyped. Single-SNP association was analyzed using Fisher's exact test (unconditional) or logistic regression after conditioning on the effects of age and three LOXL1 SNPs (rs1048661, rs3825942, and rs2165241). Interaction analysis was performed between the homocysteine and LOXL1 SNPs using logistic regression. Haplotype analysis and the set-based test were used to test for association of individual genes. Multiple comparisons were corrected using the Bonferroni method.ResultsOne SNP (rs8006686) in MTHFD1 showed a nominally significant association with PXFG (p=0.015, OR=2.23). None of the seventeen SNPs tested were significantly associated with PXFS or PXFG after correcting for multiple comparisons (Bonferroni corrected p>0.25). After controlling for the effects of age and three associated LOXL1 SNPs, none of the seventeen tested SNPs were associated with PXFS (p>0.12). No significant interaction effects on PXFS were identified between the homocysteine and LOXL1 SNPs (p>0.06). Haplotype analysis and the set-based test did not find significant association of individual genes with PXFS (p>0.23 and 0.20, respectively).ConclusionsFive genes that are critical components of the homocysteine metabolism pathway were evaluated as secondary factors for PXFS and PXFG. Our results suggest that these genes are not significant risk factors for the development of these conditions.

Dataset Information

CLU Polymorphisms in Patients with Pseudoexfoliation Syndrome in Polish Population.

Publications

<i>CLU</i> Polymorphisms in Patients with Pseudoexfoliation Syndrome in Polish Population.

Similar Datasets

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