AI Article Synopsis
- The study investigates the relationship between specific genetic variants (CFH Tyr402His and LOC387715 Ser69Ala) and age-related macular degeneration (AMD) in an isolated north-west Russian population.
- Results show a higher frequency of the CFH Tyr402His C allele in AMD patients, but the associated risk is lower compared to Western populations; the LOC387715 variant is more common in late-stage AMD patients but not early-stage.
- Overall, the CFH gene plays a role in AMD risk in this population, though its impact is weaker than in Western cohorts, indicating potential genetic diversity in AMD contributors.
Article Abstract
Background/aims: A strong association has been confirmed between age-related macular degeneration (AMD) and variants at two independent loci including Tyr402His in the complement factor H (CFH) on 1q32 and Ser69Ala at LOC387715, a hypothetical gene on chromosome 10q26. The contribution of both loci to AMD was investigated in an isolated north-west Russian population.
Methods: Together with a PLEKHA1 variant at 10q26, the CFH Tyr402His and LOC387715 Ser69Ala polymorphisms were genotyped in 155 patients with AMD and 151 age-matched controls. chi(2) and Mantel-Haenszel (M-H) score tests were used to test for association. Sex-adjusted ORs were calculated.
Results: The frequency of the Tyr402His C allele was significantly higher in patients with AMD compared with controls (p(M-H)=0.0035). The increased risk observed in patients homozygous for the C allele (OR(HOM)=2.71, 95% CI 1.25 to 5.90) in this indigenous Russian population was considerably lower than that observed in previous western Caucasian populations. A significant increase in the frequency of the LOC387715 variant was observed in patients with late-stage AMD compared with controls (p(M-H)=0.007), with a homozygous OR of 3.47 (95% CI 1.01 to 11.9), although this association was not seen with early-stage AMD.
Conclusion: The CFH gene contributes to AMD in this Russian population, although the risk conferred is considerably lower in this population than that found in other Western populations. A contribution of LOC387715 to disease in this population is also likely to be of weak effect.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1954757 | PMC |
| http://dx.doi.org/10.1136/bjo.2006.105577 | DOI Listing |
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