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Khaled K. Abu-Amero, Saleh Al-Obeidan, Rand Allingham; Loxl1 Polymorphisms As A Risk Factor For Pseudoexfoliation Glaucoma In The Saudi Arabian Population. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5069.
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© ARVO (1962-2015); The Authors (2016-present)
To investigate whether single nucleotide polymorphisms (SNPs) in the LOXL1 gene are associated with pseudoexfoliation glaucoma (PEG) in the Saudi Arabian population.
The coding regions of the LOXL1 gene were fully sequenced in 93 clinically diagnosed PEG patients and 57 healthy controls. Both groups were Saudi Arabs. Previously reported and newly identified SNPs were evaluated for possible association with PEG and their pathological consequences on the gene were assessed.
The "G" allele frequencies of both rs1048661 and rs3825942 SNPs differed between PEG patients and control subjects from Saudi Arabia (p= 0.010 and p= 0.0002, respectively). This significance remained after applying the Bonferroni correction. Two non-synonymous novel SNPs in the LOXL1 gene were detected in the PEG patients and not in the controls. One of these SNPs was in exon 4 (g.25722 C>G; codon change D484E) of the LOXL1 gene and was predicted to be non-pathological; the other was in exon 6 of the LOXL1 gene (g.28084 T>G; codon change Y559D) and was predicted to be probably damaging. All alleles of SNPs (rs28706550, rs35203737, rs41429348, rs12906373, rs41435250 and rs13329473) were monoallelic in this population. No allele frequency difference for rs3522 SNP between patients and controls (p = 0.07). As for rs8818, the frequency of the more common allele "G" was 0.76 in cases vs. 0.65 in controls (p= 0.042), but the significance disappeared after applying Bonferroni correction.
Similar to almost all non-African populations tested thus far, the "G" allele of both rs1048661 and rs3825942 SNPs were associated with the risk of PEG in the Saudi Arab population.
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