title: Factor H gene variants in Japanese: its relation to atypical hemolytic uremic syndrome.
abstract: Mutations and polymorphisms of factor H gene (FH1) are known to be closely involved in the development of atypical hemolytic uremic syndrome (aHUS). Several groups have identified disease risk mutations and polymorphisms of FH1 for the development of aHUS, and have investigated frequencies of aHUS in a number of ethnic groups. However, such studies on Japanese populations are limited. In the present study, we analyzed FH1 in Japanese aHUS patients and healthy volunteers, and examined whether those variants impacted on a tendency for the development of aHUS in Japanese populations. Similar to previous studies, we found that a high frequency of FH1 mutations, located in exon 23 of FH1, encodes short consensus repeat 20 in C-terminal end of factor H molecule in patients with aHUS (40%), but not in healthy volunteers. Interestingly, no significant differences in frequency of well-known disease risk polymorphisms for aHUS were observed between healthy volunteers and aHUS patients. Our results suggested that although FH1 mutations relates to the development of Japanese aHUS in accordance with other ethnic studies, other factor may be required for factor H polymorphism to be a risk factor of Japanese aHUS.
authors.affiliation: Department of Laboratory Medicine, Shinshu University Hospital, Japan.
authors.forename: Saki
authors.initials: S
authors.lastname: Mukai
authors.forename: Yoshihiko
authors.initials: Y
authors.lastname: Hidaka
authors.forename: Masako
authors.initials: M
authors.lastname: Hirota-Kawadobora
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Matsuda
authors.forename: Noriko
authors.initials: N
authors.lastname: Fujihara
authors.forename: Yuka
authors.initials: Y
authors.lastname: Takezawa
authors.forename: Seiko
authors.initials: S
authors.lastname: Kubota
authors.forename: Kenichi
authors.initials: K
authors.lastname: Koike
authors.forename: Takayuki
authors.initials: T
authors.lastname: Honda
authors.forename: Kazuyoshi
authors.initials: K
authors.lastname: Yamauchi
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D065766:Atypical Hemolytic Uremic Syndrome; D002648:Child; D002675:Child, Preschool; D017242:Complement Factor H / Q000235:genetics*; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006463:Hemolytic-Uremic Syndrome / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D055815:Young Adult
chemical_list: D017242:Complement Factor H