Balkan Journal of Medical Genetics

COMPLEMENT FACTOR H Y403H POLYMORPHISM IN THE TURKISH POPULATION
Yunus Arikan Y, Türker Bilgen T, Ibrahim Keser I,
*Corresponding Author: Ibrahim Keser, Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, TR-07059, Antalya, Turkey; Tel.:+90-242-249-6973; Fax:+90- 242-227-4495; E-mail: keser@akdeniz.edu.tr
page: 41

DISCUSSION

The CFH-mediated inactivation of the alternative pathway protects the host cell membranes from excessive complement system activation. The Y402H substitution interferes with the binding ability of the SCR7 domain for poly-anionic molecules such as heparin and CRP, which are biological markers of inflammation [6,20]. As a consequence, this variant leads to cell loss and increased damage of target tissues. The CFH mutations and variants have been associated with renal and ocular conditions like MPGN2, aHUS, basal laminar drusen, and AMD. Sometimes patients may have more than one of these conditions, suggesting common mechanisms in their pathogenesis [1]. However, there is no straightforward genotype-phenotype correlation between the CFH variants and disease [1]. It has been reported that the C allele for the CFH c.1277 T>C polymorphism increases the odds ratio of AMD up to 6-fold in different populations except the Japanese [21-23]. An 8-fold increased risk of developing AMD has been reported for the CC genotype with a positive family history of AMD [16]. Ethnic differences in disease-susceptible genomic alterations have also been shown for the CFH-related phenotypes [24,25]. While the C allele frequency varies between 0.30 and 0.39% in different Caucasian populations, its frequency is 0.11% for Japanese people [24,29]. We found the C allele frequency to be 0.35% in our Turkish population (Table 1). This C allele frequency makes it important, especially for AMD in Turkey. Our experimental results revealed no other SNPs in the region comprising the SCR-7 domain of the CFH gene. This may imply that the SCR-7 domain is a conserved and func-tionally-important region of the CFH gene.

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