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V. Ramprasad, R. George, N. Soumittra, F. Sharmila, L. Vijaya, G. Kumaramanickavel; Pseudoexfoliation Syndrome in India: Association of G135D Polymorphism in LOXL1 Gene. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1722.
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In the Nordic, Anglo-Celtic & Caucasian populations, pseudoexfoliation syndrome (XFS) and pseudoexfoliation glaucoma (XFG) has been significantly associated with the LOXL1 gene exon 1 polymorphisms - allele G of rs1048661 (R141L) and allele G of rs3825942 (G135D). In this study, we studied the association of rs1048661 and rs3825942 in a southern Indian population.
Sixty two cases with XFS and 120 matched normal controls who had thorough glaucoma evaluation were included in the study. Exon 1 of LOXL1 gene with the SNPs were amplified and sequenced. For statistical significance Pearson’s Chi square test was performed. HAPLOVIEW program v4.0 was used to determine the Hardy-Weinberg equilibrium and haplotype association.
In our study population there was a significant association of allele G of rs3825942 with XFS (p = 0.0001, OR = 4.17, CI - 1.89, 9.18) and genotype GG (p=0.000305) with XFS. Among the three observed haplotypes, G,G haplotype was strongly associated with XFS (OR of 3.001, CI - 1.83, 4.91, p = 9.9 x 10-6)
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