Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate
- Sheila A Fisher1,
- Andrea Rivera2,
- Lars G Fritsche2,
- Gulja Babadjanova3,
- Sergey Petrov4,
- Bernhard H F Weber2
- 1Department of Medical and Molecular Genetics, Guy’s King’s and St Thomas’ School of Medicine, King’s College, London, UK
- 2Institute of Human Genetics, University of Regensburg, Regensburg, Germany
- 3Institute of Pulmonology, Russian State Medical University, Moscow, Russia
- 4Institute for Ophthalmological Diseases, Moscow, Russia
- Correspondence to: Dr B H F Weber Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, D-93053 Regensburg, Germany;
- Accepted 11 October 2006
- Published Online First 18 October 2006
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. χ2 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 (pM–H = 0.0035). The increased risk observed in patients homozygous for the C allele (ORHOM = 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 (pM–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.
Published Online First 18 October 2006
Competing interests: None.