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
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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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