title: Association of common missense changes in ELAC2 ( HPC2) with prostate cancer in a Japanese case-control series.
abstract: The recently identified prostate cancer susceptibility gene ELAC2 ( HPC2) harbors two common missense variants, a serine to leucine substitution at residue 217 (Leu217) and an alanine to threonine substitution at residue 541 (Thr541). We genotyped the two variants in a Japanese cohort consisting of 350 prostate cancer patients 242 male population controls, and 114 male low-risk controls. Both missense alleles, Leu217 and Thr541, were carried at higher frequency in Japanese patients than in the controls (Leu217, P= 0.0012; Thr541, P = 0.0145), and the odds ratios associated with carrying these sequence variants were higher in Japanese than in Caucasians. Although the Leu217 and Thr541 variants of ELAC2 are less common in Japanese than in Caucasians, both variants confer significantly increased risk of prostate cancer in Japanese. Carriage of these variants was not associated with age at diagnosis, tumor stage, or tumor grade in these Japanese prostate cancer patients. The allele-specific pattern of risk observed in Japanese and familial Caucasian patients was qualitatively similar; however, the magnitude of that risk was considerably greater in Japanese than in Caucasians.
authors.affiliation: Department of Molecualr Biology, Institute of Gerontology, Nippon Medical School, Kawasaki, Japan.
authors.forename: Hiromichi
authors.initials: H
authors.lastname: Fujiwara
authors.forename: Mitsura
authors.initials: M
authors.lastname: Emi
authors.forename: Hisaki
authors.initials: H
authors.lastname: Nagai
authors.forename: Taiji
authors.initials: T
authors.lastname: Nishimura
authors.forename: Noboru
authors.initials: N
authors.lastname: Konishi
authors.forename: Yoshinobu
authors.initials: Y
authors.lastname: Kubota
authors.forename: Tomohiko
authors.initials: T
authors.lastname: Ichikawa
authors.forename: Satoru
authors.initials: S
authors.lastname: Takahashi
authors.forename: Taro
authors.initials: T
authors.lastname: Shuin
authors.forename: Tomonori
authors.initials: T
authors.lastname: Habuchi
authors.forename: Osamu
authors.initials: O
authors.lastname: Ogawa
authors.forename: Katsuki
authors.initials: K
authors.lastname: Inoue
authors.forename: Mark H
authors.initials: MH
authors.lastname: Skolnick
authors.forename: Jeff
authors.initials: J
authors.lastname: Swensen
authors.forename: Nicola J
authors.initials: NJ
authors.lastname: Camp
authors.forename: Sean V
authors.initials: SV
authors.lastname: Tavtigian
mesh_terms: D016022:Case-Control Studies; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D006801:Humans; D007564:Japan; D008297:Male; D020125:Mutation, Missense; D009363:Neoplasm Proteins / Q000235:genetics*; D011471:Prostatic Neoplasms / Q000235:genetics*
chemical_list: C421605:ELAC2 protein, human; D009363:Neoplasm Proteins