title: Age-related macular degeneration and association of CFH Y402H and LOC387715 A69S polymorphisms in a Turkish population.
abstract: Age-related macular degeneration (AMD) is a disease with multifactorial etiology characterized by irreversible loss of central visual acuity. The discovery of susceptive single-nucleotide polymorphisms (SNPs) has progressed our understanding of AMD. Complement factor H (CFH) gene Y402H polymorphism and high-temperature requirement A-1 (HTRA1) LOC387715 gene A69S polymorphisms are the most important SNPs reported in the literature. Determination of genetic risk factors and genotype-phenotype relationship in AMD may result in rapid and cost-effective therapeutic applications for young and old population. In this study, we hypothesized a potential association between CFH gene Y402H and HTRA1 LOC387715 gene A69S polymorphism in Turkish AMD patients. In blood samples from a total of 252 individuals, 147 clinically diagnosed as AMD and the others control, polymorphic sites in CFH, Y402H (Tsp509I T/C), and HTRA1, LOC387715 A69S (FnuHI G/T), were determined by polymerase chain reaction-restriction fragment length polymorphism analysis. There was significant difference between CFH genotypes in the AMD group, TT 21.8%, TC 48.3%, and CC 29.9%, and in the control subjects, TT 45% (p=0.003), TC 41% (p=0.0001), and CC 14% (p=0.0001). Further, the A69S polymorphism of LOC387715 was investigated and found to be significantly associated with AMD. LOC387715 genotypes in the AMD group were GG 30.6%, GT 38.1%, and TT 31.3% and in the control subjects were GG 59% (p=0.027), GT 39% (p=0.0001), and TT 2% (p=0.0001), respectively. We also found that Y402H C and A69S T allele were associated with AMD. This is the first study showing that Y402H and LOC387715 are associated with AMD in Turkish population.
authors.affiliation: Afyon Kocatepe University, Faculty of Medicine, Department of Medical Genetics, Ali Çetinkaya Kampusu, Dekanlik Binasi, Afyonkarahisar, Turkey. yasemin_soysal@yahoo.com
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Soysal
authors.forename: Umit Übeyt
authors.initials: UÜ
authors.lastname: Inan
authors.forename: Tuncay
authors.initials: T
authors.lastname: Küsbeci
authors.forename: Necat
authors.initials: N
authors.lastname: Imirzalioğlu
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001483:Base Sequence; D017242:Complement Factor H / Q000235:genetics; D005260:Female; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics*; D014421:Turkey
chemical_list: C514392:ARMS2 protein, human; C493495:CFH protein, human; D011506:Proteins; D017242:Complement Factor H