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Role of Lysyl oxidase-like 1 gene polymorphisms in Pakistani patients with pseudoexfoliative glaucoma.

Micheal S, Khan MI, Akhtar F, Ali M, Ahmed A, den Hollander AI, Qamar R - Mol. Vis. (2012)

Bottom Line: Genomic DNA was extracted and both SNPs were genotyped by direct sequencing.In addition the G alleles of rs1048661 and rs3825942 confer an increased risk for PEXG with an odds ratio (OR) of 2.98 (95% CI 1.94-4.57) and OR 6.83 (95% CI 2.94-16.67), respectively.A significant association was found for the G allele of rs1048661 and rs3825942 in PEXG patients of Pakistani origin.

View Article: PubMed Central - PubMed

Affiliation: Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan.

ABSTRACT

Purpose: Single nucleotide polymorphisms (SNPs) rs1048661 (p.R141L) and rs3825942 (p.G153D) in the lysyl oxidase-like 1 (LOXL1) gene have been previously reported to be associated with pseudoexfoliation glaucoma (PEXG) in various Asian and European populations, but these SNPs have not yet been studied in the Pakistani population. Therefore the aim of the present study was to investigate the association of these two coding LOXL1 SNPs in Pakistani PEXG patients.

Methods: One hundred twenty-eight Pakistani patients diagnosed with PEXG and 180 healthy controls were recruited for the study. Genomic DNA was extracted and both SNPs were genotyped by direct sequencing. Association of genotype and allele frequencies with PEXG were analyzed using the Chi-square (χ(2)) test.

Results: Genotype and allele frequencies of both rs1048661 and rs3825942 were found to be significantly associated with PEXG. The GG genotypes of both LOXL1 SNPs were associated with an increased risk of developing PEXG. In addition the G alleles of rs1048661 and rs3825942 confer an increased risk for PEXG with an odds ratio (OR) of 2.98 (95% CI 1.94-4.57) and OR 6.83 (95% CI 2.94-16.67), respectively.

Conclusions: A significant association was found for the G allele of rs1048661 and rs3825942 in PEXG patients of Pakistani origin.

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Related in: MedlinePlus

Sequence chromatograms of the two LOXL1 SNPs of Exon 1. A-C: The corresponding normal (GG), heterozygous (GT), and homozygous variant (TT) sequences for rs1048661. D-F: Normal (GG), heterozygous (GA), and homozygous variant (AA) sequences for rs3825942.
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f1: Sequence chromatograms of the two LOXL1 SNPs of Exon 1. A-C: The corresponding normal (GG), heterozygous (GT), and homozygous variant (TT) sequences for rs1048661. D-F: Normal (GG), heterozygous (GA), and homozygous variant (AA) sequences for rs3825942.

Mentions: The distribution of the LOXL1 genotype and allele frequencies of SNPs rs1048661 and rs3825942 were analyzed in PEXG patients and control individuals. Figure 1 shows the normal, heterozygous and homozygous variant sequences for the two SNPs studied. The genotype frequencies were consistent with the Hardy–Weinberg equilibrium (HWE) for both SNPs in the controls. Table 1 gives the detailed count of the genotype and allele frequencies of rs1048661 and rs3825942 polymorphisms of LOXL1. For both SNPs a significant association was identified for the genotype (p-value <0.001) and allele frequencies (p-value <0.001) in PEXG patients as compared to controls. The G allele of rs1048661 was found in 85.2% of the patient alleles compared to 65.8% of control alleles, demonstrating that it confers an increased risk for PEXG (OR 2.98 [95% CI 1.94–4.57]). The G allele of rs3825942 had an even stronger association with PEXG, as it was found in 97.3% of patient alleles compared to 83.9% of control alleles (OR 6.83 [95% CI 2.94–16.67]).


Role of Lysyl oxidase-like 1 gene polymorphisms in Pakistani patients with pseudoexfoliative glaucoma.

Micheal S, Khan MI, Akhtar F, Ali M, Ahmed A, den Hollander AI, Qamar R - Mol. Vis. (2012)

Sequence chromatograms of the two LOXL1 SNPs of Exon 1. A-C: The corresponding normal (GG), heterozygous (GT), and homozygous variant (TT) sequences for rs1048661. D-F: Normal (GG), heterozygous (GA), and homozygous variant (AA) sequences for rs3825942.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3351428&req=5

f1: Sequence chromatograms of the two LOXL1 SNPs of Exon 1. A-C: The corresponding normal (GG), heterozygous (GT), and homozygous variant (TT) sequences for rs1048661. D-F: Normal (GG), heterozygous (GA), and homozygous variant (AA) sequences for rs3825942.
Mentions: The distribution of the LOXL1 genotype and allele frequencies of SNPs rs1048661 and rs3825942 were analyzed in PEXG patients and control individuals. Figure 1 shows the normal, heterozygous and homozygous variant sequences for the two SNPs studied. The genotype frequencies were consistent with the Hardy–Weinberg equilibrium (HWE) for both SNPs in the controls. Table 1 gives the detailed count of the genotype and allele frequencies of rs1048661 and rs3825942 polymorphisms of LOXL1. For both SNPs a significant association was identified for the genotype (p-value <0.001) and allele frequencies (p-value <0.001) in PEXG patients as compared to controls. The G allele of rs1048661 was found in 85.2% of the patient alleles compared to 65.8% of control alleles, demonstrating that it confers an increased risk for PEXG (OR 2.98 [95% CI 1.94–4.57]). The G allele of rs3825942 had an even stronger association with PEXG, as it was found in 97.3% of patient alleles compared to 83.9% of control alleles (OR 6.83 [95% CI 2.94–16.67]).

Bottom Line: Genomic DNA was extracted and both SNPs were genotyped by direct sequencing.In addition the G alleles of rs1048661 and rs3825942 confer an increased risk for PEXG with an odds ratio (OR) of 2.98 (95% CI 1.94-4.57) and OR 6.83 (95% CI 2.94-16.67), respectively.A significant association was found for the G allele of rs1048661 and rs3825942 in PEXG patients of Pakistani origin.

View Article: PubMed Central - PubMed

Affiliation: Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan.

ABSTRACT

Purpose: Single nucleotide polymorphisms (SNPs) rs1048661 (p.R141L) and rs3825942 (p.G153D) in the lysyl oxidase-like 1 (LOXL1) gene have been previously reported to be associated with pseudoexfoliation glaucoma (PEXG) in various Asian and European populations, but these SNPs have not yet been studied in the Pakistani population. Therefore the aim of the present study was to investigate the association of these two coding LOXL1 SNPs in Pakistani PEXG patients.

Methods: One hundred twenty-eight Pakistani patients diagnosed with PEXG and 180 healthy controls were recruited for the study. Genomic DNA was extracted and both SNPs were genotyped by direct sequencing. Association of genotype and allele frequencies with PEXG were analyzed using the Chi-square (χ(2)) test.

Results: Genotype and allele frequencies of both rs1048661 and rs3825942 were found to be significantly associated with PEXG. The GG genotypes of both LOXL1 SNPs were associated with an increased risk of developing PEXG. In addition the G alleles of rs1048661 and rs3825942 confer an increased risk for PEXG with an odds ratio (OR) of 2.98 (95% CI 1.94-4.57) and OR 6.83 (95% CI 2.94-16.67), respectively.

Conclusions: A significant association was found for the G allele of rs1048661 and rs3825942 in PEXG patients of Pakistani origin.

Show MeSH
Related in: MedlinePlus