Joint effects of polymorphisms in the HTRA1, LOC387715/ARMS2, and CFH genes on AMD in a Caucasian population
2007

Genetic Factors in Age-Related Macular Degeneration

Sample size: 504 publication Evidence: high

Author Information

Author(s): Francis Peter J, Zhang Hong, DeWan Andrew, Hoh Josephine, Klein Michael L

Primary Institution: Oregon Health & Science University

Hypothesis

To estimate the joint effects of SNPs in the CFH, HTRA1, and LOC387715/ARMS2 genes on AMD in a Caucasian population.

Conclusion

Both the HTRA1 and LOC387715/ARMS2 SNPs contribute equally to the risk of advanced AMD without interaction with the CFH gene.

Supporting Evidence

  • The HTRA1 SNP showed strong disease association with advanced AMD.
  • The LOC387715/ARMS2 SNP showed similar levels of association.
  • Odds ratios of having advanced AMD were significantly high for individuals with risk alleles.

Takeaway

This study looked at how certain genes affect the risk of a serious eye disease called AMD, finding that two specific gene changes increase the risk equally.

Methodology

Genotyping of three SNPs was performed in 333 AMD cases and 171 controls, followed by association tests.

Limitations

The sample size may be too small to fully distinguish the contributions of the SNPs to disease risk.

Participant Demographics

Caucasian individuals, average age 79 for cases and 74 for controls.

Statistical Information

P-Value

p<10−10

Confidence Interval

95% CI 2.928, 5.390

Statistical Significance

p<10−10

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