title: Association study of genetic variants on chromosome 7q31 with susceptibility to normal tension glaucoma in a Japanese population.
abstract: The caveolin 1 to caveolin 2 (CAV1-CAV2) gene region on chromosome 7q31 has been reported to be associated with susceptibility to primary open angle glaucoma (POAG) and normal tension glaucoma (NTG) in previous studies. We investigated whether genetic variants in the CAV1-CAV2 region are associated with NTG in Japanese patients. Two hundred and ninety-two Japanese patients with NTG and 352 Japanese healthy controls were recruited. We genotyped three single-nucleotide polymorphisms; that is, rs1052990, rs4236601, and rs7795356, in the CAV1-CAV2 gene region and assessed the allelic diversity among cases and controls. The frequency of the minor allele (G) of rs1052990 was significantly decreased in NTG cases compared with controls (P=0.014, OR=0.71), whereas NTG or POAG cases had a significantly higher frequency of the allele than controls in previous studies. Conversely, rs7795356 did not show any significant association with NTG cases, and rs4236601 was monomorphic in the Japanese study population. Our findings did not correspond with previous positive results, suggesting that CAV1-CAV2 variants studied in the present study are not important risk factors for NTG susceptibility in all populations. Further studies are needed to elucidate the possible contribution of the CAV1-CAV2 region to the development of glaucoma.
authors.affiliation: Department of Ophthalmology, Yokohama City University School of Medicine, Kanagawa, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Kato
authors.forename: A
authors.initials: A
authors.lastname: Meguro
authors.forename: E
authors.initials: E
authors.lastname: Nomura
authors.forename: R
authors.initials: R
authors.lastname: Uemoto
authors.forename: N
authors.initials: N
authors.lastname: Nomura
authors.forename: M
authors.initials: M
authors.lastname: Ota
authors.forename: K
authors.initials: K
authors.lastname: Kashiwagi
authors.forename: F
authors.initials: F
authors.lastname: Mabuchi
authors.forename: H
authors.initials: H
authors.lastname: Iijima
authors.forename: K
authors.initials: K
authors.lastname: Kawase
authors.forename: T
authors.initials: T
authors.lastname: Yamamoto
authors.forename: M
authors.initials: M
authors.lastname: Nakamura
authors.forename: A
authors.initials: A
authors.lastname: Negi
authors.forename: T
authors.initials: T
authors.lastname: Sagara
authors.forename: T
authors.initials: T
authors.lastname: Nishida
authors.forename: M
authors.initials: M
authors.lastname: Inatani
authors.forename: H
authors.initials: H
authors.lastname: Tanihara
authors.forename: M
authors.initials: M
authors.lastname: Aihara
authors.forename: M
authors.initials: M
authors.lastname: Araie
authors.forename: T
authors.initials: T
authors.lastname: Fukuchi
authors.forename: H
authors.initials: H
authors.lastname: Abe
authors.forename: T
authors.initials: T
authors.lastname: Higashide
authors.forename: K
authors.initials: K
authors.lastname: Sugiyama
authors.forename: T
authors.initials: T
authors.lastname: Kanamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Kiuchi
authors.forename: A
authors.initials: A
authors.lastname: Iwase
authors.forename: S
authors.initials: S
authors.lastname: Chin
authors.forename: S
authors.initials: S
authors.lastname: Ohno
authors.forename: H
authors.initials: H
authors.lastname: Inoko
authors.forename: N
authors.initials: N
authors.lastname: Mizuki
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D051242:Caveolin 1 / Q000235:genetics*; D051243:Caveolin 2 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007564:Japan; D057066:Low Tension Glaucoma / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D051242:Caveolin 1; D051243:Caveolin 2