title: Complement factor H variant p.Y402H in pseudoxanthoma elasticum patients.
abstract: Pseudoxanthoma elasticum (PXE) is a hereditary disorder predominantly affecting the eyes, the skin, and the vascular system. The subretinal neovascularization and retinal hemorrhages leading to the loss of central vision in PXE are similar to the process observed in age-related macular degeneration (AMD). The complement factor H (CFH) variant c.1277T > C (p.Y402H) is a recently discovered risk factor for AMD. The aim of this study was to analyze whether this CFH variant is a secondary genetic risk factor for PXE. Therefore, the genotypes of CFH c.1277T > C (p.Y402H) were determined in 189 German PXE patients and 189 age- and sex-matched controls. The allelic frequencies of the investigated variant did not differ between patients and controls. The frequencies were 33%, 56%, and 11% for wild-type, heterozygous, and homozygous genotypes in the PXE patients and 36%, 51%, and 13% in the control cohort, respectively. Further, no significant associations were identified when allele carriers were analyzed or after adjustment for sex, age, smoking, organ involvement, hypertension, or age at disease onset. No significant genotype-phenotype correlation was detected. In conclusion, our data reliably show that the CFH variant c.1277T > C (p.Y402H) is not a genetic risk factor for PXE.
authors.affiliation: Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen, Universitätsklinik der Ruhr-Universität Bochum, Bad Oeynhausen, Germany. cgoetting@hdz-nrw.de
authors.forename: Christian
authors.initials: C
authors.lastname: Götting
authors.forename: Doris
authors.initials: D
authors.lastname: Hendig
authors.forename: Ralf
authors.initials: R
authors.lastname: Zarbock
authors.forename: Christiane
authors.initials: C
authors.lastname: Szliska
authors.forename: Knut
authors.initials: K
authors.lastname: Kleesiek
mesh_terms: D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D015331:Cohort Studies; D017242:Complement Factor H / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D005858:Germany / Q000208:ethnology; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011561:Pseudoxanthoma Elasticum / Q000235:genetics*; D012307:Risk Factors; D044465:White People / Q000235:genetics
chemical_list: D017242:Complement Factor H