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Noncoding variant in the complement factor H gene and risk of exudative age-related macular degeneration in a Chinese

Lei Cui1, Haiying Zhou, Jie Yu

  • 1Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing, China.

Investigative Ophthalmology & Visual Science
|October 24, 2009
PubMed

Insights

A specific variant in the complement factor H (CFH) gene, rs1410996, is linked to increased risk of exudative age-related macular degeneration (AMD) in Chinese patients. Complement component 3 (C3) gene variants showed no association with AMD in this population.

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Age-related macular degeneration (AMD) is a leading cause of vision loss in older adults.
  • Genetic factors, including variants in complement genes, are implicated in AMD pathogenesis.
  • The role of specific complement factor H (CFH) and complement component 3 (C3) gene variants in exudative AMD among Chinese populations requires further investigation.

Purpose of the Study:

  • To determine the association between a noncoding variant of the CFH gene (rs1410996) and two coding variants of the C3 gene (rs2230199, rs1047286) with exudative AMD.
  • To evaluate the genetic risk factors for exudative AMD in a Chinese cohort.

Main Methods:

  • Genotyping of CFH (rs1410996) and C3 (rs2230199, rs1047286) variants using PCR and direct sequencing.
  • Case-control study involving 150 Chinese patients with exudative AMD and 161 controls.

Main Results:

  • The CFH noncoding variant rs1410996 was significantly associated with exudative AMD (P < 0.001).
  • Carriers of the risk C allele at rs1410996 had an increased odds ratio for AMD, particularly homozygous CC genotype (OR=3.85).
  • C3 variants rs2230199 and rs1047286 were rare and not associated with exudative AMD in this cohort.

Conclusions:

  • The CFH noncoding variant rs1410996 is a risk factor for exudative AMD in the Chinese population.
  • C3 gene variants rs2230199 and rs1047286 do not appear to contribute to exudative AMD risk in this Chinese cohort.
Abstract

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