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

INTRODUCTION

Complement factor H (CFH) is an important member of the regulator of complement activation protein family of innate immunity. The CFH, a plasma glycoprotein or attached to outer cell membrane, restricts the activation of complement on the host cell membrane and protects tissues from damage produced by complement activation [1,2]. The CFH gene is located on chromosome 1q32 and encodes 23 exons for a 155kDa glycoprotein [2- 4]. More than 550 single nucleotide polymorphisms (SNPs) of the gene have been discovered (www. ncbi.nih.gov/SNP). The c.1277 T>C (Y402H) is a well known polymorphism that leads to substitution of tyrosine by histidine at codon 402. This polymorphism is located on the short consensus repeat 7 (SCR-7) domain of the CFH protein that binds the C-reactive protein (CRP), sialic acid and heparin [2,5-7]. The CFH mutations have been associated with adult or atypic hemolytic uremic syndrome (aHUS), HUS, membrano proliferative glomerulo nephritis 2 (MPGN2), age-related macular degeneration (AMD) and basal laminar drusen [8-16] Although the c.1277 T>C variant is less common in renal diseases, it is strongly associated with AMD [17,18]. We have determined the frequency of the c.1277 T>C polymorphism of the CFH gene in a Turkish population from southwest Turkey.



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