Association of non-synonymous single nucleotide polymorphisms in the LOXL1 gene with pseudoexfoliation syndrome in India
2008

Association of LOXL1 Gene Variants with Pseudoexfoliation Syndrome in India

Sample size: 149 publication Evidence: moderate

Author Information

Author(s): Ramprasad Vedam Lakshmi, George Ronnie, Soumittra Nagasamy, Sharmila Ferdinamarie, Vijaya Lingam, Kumaramanickavel Govindasamy

Primary Institution: Vision Research Foundation, Sankara Nethralaya, Chennai, India

Hypothesis

The study investigates the association of specific LOXL1 gene polymorphisms with pseudoexfoliation syndrome in a southern Indian population.

Conclusion

The allele G of the rs3825942 SNP in the LOXL1 gene is significantly associated with pseudoexfoliation syndrome in the southern Indian population.

Supporting Evidence

  • The study identified a significant association of allele G of rs3825942 with pseudoexfoliation syndrome.
  • Genotype GG of rs3825942 was also significantly associated with the disease.
  • This is the first study to replicate European findings in an Asian population.

Takeaway

This study found that a specific gene variant is linked to a common eye condition in India, which could help in understanding and treating the disease.

Methodology

The study involved genotyping two SNPs in 52 cases of pseudoexfoliation syndrome and 97 matched controls, followed by statistical analysis using Pearson’s Χ2 test.

Limitations

The sample size for the study was relatively small, which may affect the generalizability of the findings.

Participant Demographics

Participants included 52 cases of pseudoexfoliation syndrome and 97 matched controls, all of south Indian ethnicity.

Statistical Information

P-Value

0.0001

Confidence Interval

1.89–9.18

Statistical Significance

p<0.0001

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