COMPLEMENT FACTOR H Y403H POLYMORPHISM IN THE TURKISH POPULATION

Yunus A. Y., Turker B. T., Ibrahim K. I.

BALKAN JOURNAL OF MEDICAL GENETICS, vol.13, no.2, pp.41-45, 2010 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 13 Issue: 2
  • Publication Date: 2010
  • Doi Number: 10.2478/v10034-010-0025-5
  • Journal Name: BALKAN JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.41-45
  • Keywords: Complement factor H (CFH), c.1277 T > C, Polymorphism, Y402H, HEMOLYTIC-UREMIC SYNDROME, HEPARIN-BINDING DOMAIN, MACULAR DEGENERATION, GENE POLYMORPHISMS, NO ASSOCIATION, VARIANT, RISK, SUSCEPTIBILITY, IDENTIFICATION, INDIVIDUALS
  • Yozgat Bozok University Affiliated: No

Abstract

Complement factor H (CFH) is an important regulator protein of the alternative pathway of the complement system. The CFH mutations and polymorphisms in CFH have been associated with diseases of the kidney and eye. We investigated the allelic frequency of the most common CFH polymorphism, c. 1277 T>C (Y402H), in 100 healthy Turkish volunteers from the Antalya Province by direct sequencing of the corresponding genomic region. We found a frequency of 0.65% for the T and 0.35% for the C alleles. The frequency of the TT, CT and CC genotypes was 0.40, 0.49 and 0.11% respectively. Thus, the disease-related C allele has a frequency in Turkey similar to that of Caucasian populations.