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Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate
  1. Sheila A Fisher1,
  2. Andrea Rivera2,
  3. Lars G Fritsche2,
  4. Gulja Babadjanova3,
  5. Sergey Petrov4,
  6. Bernhard H F Weber2
  1. 1Department of Medical and Molecular Genetics, Guy’s King’s and St Thomas’ School of Medicine, King’s College, London, UK
  2. 2Institute of Human Genetics, University of Regensburg, Regensburg, Germany
  3. 3Institute of Pulmonology, Russian State Medical University, Moscow, Russia
  4. 4Institute for Ophthalmological Diseases, Moscow, Russia
  1. Correspondence to: Dr B H F Weber Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, D-93053 Regensburg, Germany; bweb{at}


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.

  • AMD, age-related macular degeneration
  • CFH, complement factor H
  • SNP, single-nucleotide polymorphism

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  • Published Online First 18 October 2006

  • Competing interests: None.