April 2009
Volume 50, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2009
CFH and PEDF Gene Polymorphisms and Diabetic Retinopathy - An Association Study in the South Indian Population
Author Affiliations & Notes
  • K. Vinita
    Genetics and Molecular Biology,
    Sankara Nethralaya, Chennai, India
  • S. Uthra
    Genetics and Molecular Biology,
    Sankara Nethralaya, Chennai, India
  • R. Rajiv
    Diabetic Retinopathy Project,
    Sankara Nethralaya, Chennai, India
  • R. Padmaja
    Diabetic Retinopathy Project,
    Sankara Nethralaya, Chennai, India
  • E. Anuradha
    Genetics and Molecular Biology,
    Sankara Nethralaya, Chennai, India
  • F. Sharmila
    Genetics and Molecular Biology,
    Sankara Nethralaya, Chennai, India
  • M. Rajesh
    Genetics and Molecular Biology,
    Sankara Nethralaya, Chennai, India
  • S. Tarun
    Diabetic Retinopathy Project,
    Sankara Nethralaya, Chennai, India
  • G. Kumaramanickavel
    Genetics and Molecular Biology,
    Sankara Nethralaya, Chennai, India
  • Footnotes
    Commercial Relationships  K. Vinita, None; S. Uthra, None; R. Rajiv, None; R. Padmaja, None; E. Anuradha, None; F. Sharmila, None; M. Rajesh, None; S. Tarun, None; G. Kumaramanickavel, None.
  • Footnotes
    Support  Jamshetji Tata Trust
Investigative Ophthalmology & Visual Science April 2009, Vol.50, 2309. doi:
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      K. Vinita, S. Uthra, R. Rajiv, R. Padmaja, E. Anuradha, F. Sharmila, M. Rajesh, S. Tarun, G. Kumaramanickavel; CFH and PEDF Gene Polymorphisms and Diabetic Retinopathy - An Association Study in the South Indian Population. Invest. Ophthalmol. Vis. Sci. 2009;50(13):2309.

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Abstract

Purpose: : The associations of diabetic retinopathy with Y402H complement factor H and pigment epithelium-derived factor (PEDF) were investigated.

Methods: : After detailed clinical examination and documentation of relevant parameters, genomic DNA was isolated from the peripheral blood of diabetic patients with retinopathy (cases, DR+ = 144) and without retinopathy (controls, DR-, = 105). Genotyping of Y402H polymorphism of CFH gene and PEDF promoter region polymorphisms (rs12150053, rs12948385) and Met72Thr of exon 3 were performed by PCR-based restriction fragment length polymorphism (RFLP) technique using NlaIII, BsrI, HincII and BssSI restriction enzyme digestion followed by electrophoresis on a 3% agarose gel. Random samples were sequenced by direct sequencing using an ABI prism 3100 Avant genetic analyzer to confirm the RFLP. The difference in the distribution of genotypes and alleles between the study groups were analyzed by chi square test.

Results: : The genotypes of Y402H polymorphism were equally distributed between the DR+ (n = 144) and DR- (n = 105) (p = 0.1119). The allelic frequencies also were not significantly different between the groups (DR+, C = 26.4%, T = 73.6 and DR-, C = 29.1%, T = 70.9%, p = 0.577). The genotypes of PEDF promoter polymorphism rs12150053 and rs12948385 were equally distributed between the DR+ (n = 97) and DR-(n = 89) and showed lack of association (p = 0.8311 and 0.7672). However, the Met72Thr genotype in DR+ (n = 101) and DR- (n = 93) showed an association with the DR+ risk allele T (p = 0.0042).

Conclusions: : The Met72Thr polymorphism of PEDF gene showed significant association with DR in a southern India population-based cohort. Thus suggesting that PEDF, an anti-angiogenic factor, might play a role in the development of DR and not the CFH variant.

Keywords: diabetic retinopathy • candidate gene analysis 
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