title: Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.
abstract: The objective of this study was to investigate ethnic differences in the glyoxylate reductase/hydroxypyruvate reductase (GRHPR) gene in patients with primary hyperoxaluria type 2 (PH2). GRHPR was genotyped in Japanese patients with PH2 and all GRHPR mutations described to date were reviewed in terms of geographic and ethnic association. We identified a novel mutation, a two-nucleotide deletion (c.248_249delTG) in exon 3 creating a premature 'stop' at codon 91. Also, we found that the c.864_865delTG mutation was associated with the rs35891798 single-nucleotide polymorphism. The allelic frequencies of the c.103delG, c.494G>A, c.403_404+2 delAAGT, and c.864_865delTG mutations in PH2 patients were 37.8%, 15.6%, 10.0%, and 10.0%, respectively. All patients with the c.103delG mutation were Caucasian. Patients with the c.494G>A mutation and 78% (7/9) of those with the c.403_404+2 delAAGT mutation were from the Indian subcontinent, whereas those with the c.864_865delTG mutation were Chinese or Japanese. Molecular analysis of GRHPR of four Japanese PH2 patients identified a novel mutation (c.248_249delTG in exon 3). Caucasians with PH2 should be screened for the c.103delG mutation; patients from the Indian subcontinent for c.494G>A; and patients of East Asian origin (particularly) for c.864_865delTG. The prevalence of the latter mutation in PH2 patients from East Asia was 75.0%.
authors.affiliation: Department of Urology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Takayama
authors.forename: N
authors.initials: N
authors.lastname: Takaoka
authors.forename: M
authors.initials: M
authors.lastname: Nagata
authors.forename: K
authors.initials: K
authors.lastname: Johnin
authors.forename: Y
authors.initials: Y
authors.lastname: Okada
authors.forename: S
authors.initials: S
authors.lastname: Tanaka
authors.forename: M
authors.initials: M
authors.lastname: Kawamura
authors.forename: T
authors.initials: T
authors.lastname: Inokuchi
authors.forename: M
authors.initials: M
authors.lastname: Ohse
authors.forename: T
authors.initials: T
authors.lastname: Kuhara
authors.forename: F
authors.initials: F
authors.lastname: Tanioka
authors.forename: H
authors.initials: H
authors.lastname: Yamada
authors.forename: H
authors.initials: H
authors.lastname: Sugimura
authors.forename: S
authors.initials: S
authors.lastname: Ozono
mesh_terms: D000328:Adult; D000429:Alcohol Oxidoreductases / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005006:Ethnicity / Q000235:genetics; D005260:Female; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000209:etiology / Q000235:genetics*; D007223:Infant; D008297:Male; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D017384:Sequence Deletion; D044465:White People / Q000235:genetics
chemical_list: D000429:Alcohol Oxidoreductases; C020830:glyoxylate reductase
keywords: GRHPR; ethnic; mutation; primary hyperoxaluria type 2