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Abstract #20633 Published in IGR 10-1
Association of non-synonymous single nucleotide polymorphisms in the LOXL1 gene with pseudoexfoliation syndrome in India
Ramprasad VL; George R; Soumittra N; Sharmila F; Vijaya L; Kumaramanickavel GMolecular Vision 2008; 14: 318-322
PURPOSE: In the Icelandic and Swedish populations, pseudoexfoliation sydrome (XFS) and pseudoexfoliation glaucoma (XFG) has been significantly associated with LOXL1 exon 1 polymorphisms - allele G of rs1048661 (R141L) and allele G of rs3825942 (G135D). In this study, we looked at the association of rs1048661 and rs3825942 in a southern Indian population. METHODS: Fifty-two cases with XFS (including XFG) and 97 matched controls that had thorough glaucoma evaluations were included in the study. Exon 1 of the LOXL1 gene with the single nucleotide polymorphisms (SNPs) were amplified and sequenced. For statistical significance, Pearson's X(2) test was performed. The HAPLOVIEW program v4.0 was used to determine the Hardy-Weinberg equilibrium and haplotype association. RESULTS: In our study population, there was a significant association of allele G of rs3825942 with XFS (p=0.0001) and genotype GG (p=0.000305) with XFS. CONCLUSIONS: Out of the two non-synonymous SNPs in exon 1 of the LOXL1 gene, rs3825942 has a significant association with XFS cases in the patients of the southern Indian population. To the best of our knowledge, this is the first Asian study replicating the European studies.
Dr. G. Kumaramanickavel, Sankara Nethralaya Department of Genetics and Molecular Biology, Vision Research Foundation, 18 College Road, Chennai, Tamil Nadu 600006, India. gkumarmvel@gmail.com
Classification:
9.4.4.1 Exfoliation syndrome (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders > 9.4.4 Glaucomas associated with disorders of the lens)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
