title: SLC1A1 Gene Variants and Normal Tension Glaucoma: An Association Study.
abstract: It has been hypothesized that dysfunction of the solute carrier family 1, member1 gene (SLC1A1), which encodes the glutamate aspartate transporter, may play a role in normal tension glaucoma. In this study we investigate whether SLC1A1 is associated with normal tension glaucoma in Japanese patients.
  
  
  
  A total of 292 Japanese patients with normal tension glaucoma and 500 healthy control subjects were recruited. We genotyped 12 single-nucleotide polymorphisms in SLC1A1. We also performed an imputation analysis to evaluate the potential association of un-genotyped SLC1A1 single-nucleotide polymorphisms, and 165 single-nucleotide polymorphisms were imputed.
  
  
  
  We observed an increased frequency of the G allele of rs10739062 in patients compared to controls (p = 0.043, OR = 1.25). The rs10739062 polymorphism exhibited a dominant effect: individuals with genotype GG and GC showed a 1.91-fold increase in risk compared to genotype CC (p = 0.0082). However, the statistical significance disappeared after Bonferroni correction for multiple testing (pc > 0.05). We did not find any significant association between any of the remaining 176 single-nucleotide polymorphisms and disease risk.
  
  
  
  Our study showed a lack of association between SLC1A1 variants and normal tension glaucoma in Japanese patients, suggesting that the SLC1A1 gene does not play a critical role in the development of the disorder in this patient population. However, further genetic studies with larger sample sizes are needed to clarify whether SLC1A1 may make some contribution that affects the risk of developing normal tension glaucoma.
authors.affiliation: a Department of Ophthalmology , Yokohama City University School of Medicine , Yokohama , Kanagawa , Japan .
authors.forename: Mami
authors.initials: M
authors.lastname: Nishisako
authors.affiliation: a Department of Ophthalmology , Yokohama City University School of Medicine , Yokohama , Kanagawa , Japan .
authors.forename: Akira
authors.initials: A
authors.lastname: Meguro
authors.affiliation: a Department of Ophthalmology , Yokohama City University School of Medicine , Yokohama , Kanagawa , Japan .
authors.forename: Eiichi
authors.initials: E
authors.lastname: Nomura
authors.affiliation: a Department of Ophthalmology , Yokohama City University School of Medicine , Yokohama , Kanagawa , Japan .
authors.forename: Takahiro
authors.initials: T
authors.lastname: Yamane
authors.affiliation: a Department of Ophthalmology , Yokohama City University School of Medicine , Yokohama , Kanagawa , Japan .|b Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health , Bethesda , Maryland , USA .
authors.forename: Masaki
authors.initials: M
authors.lastname: Takeuchi
authors.affiliation: c Department of Legal Medicine , Shinshu University School of Medicine , Nagano , Japan .
authors.forename: Masao
authors.initials: M
authors.lastname: Ota
authors.affiliation: d Department of Ophthalmology , University of Yamanashi, Faculty of Medicine , Yamanashi , Japan .
authors.forename: Kenji
authors.initials: K
authors.lastname: Kashiwagi
authors.affiliation: d Department of Ophthalmology , University of Yamanashi, Faculty of Medicine , Yamanashi , Japan .
authors.forename: Fumihiko
authors.initials: F
authors.lastname: Mabuchi
authors.affiliation: d Department of Ophthalmology , University of Yamanashi, Faculty of Medicine , Yamanashi , Japan .
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Iijima
authors.affiliation: e Department of Ophthalmology , Gifu University Graduate School of Medicine , Gifu , Japan .
authors.forename: Kazuhide
authors.initials: K
authors.lastname: Kawase
authors.affiliation: e Department of Ophthalmology , Gifu University Graduate School of Medicine , Gifu , Japan .
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Yamamoto
authors.affiliation: f Department of Surgery, Division of Ophthalmology , Kobe University Graduate School of Medicine , Kobe , Hyogo , Japan .
authors.forename: Makoto
authors.initials: M
authors.lastname: Nakamura
authors.affiliation: f Department of Surgery, Division of Ophthalmology , Kobe University Graduate School of Medicine , Kobe , Hyogo , Japan .
authors.forename: Akira
authors.initials: A
authors.lastname: Negi
authors.affiliation: g Department of Ophthalmology , Yamaguchi University School of Medicine , Ube , Yamaguchi , Japan .
authors.forename: Takeshi
authors.initials: T
authors.lastname: Sagara
authors.affiliation: g Department of Ophthalmology , Yamaguchi University School of Medicine , Ube , Yamaguchi , Japan .
authors.forename: Teruo
authors.initials: T
authors.lastname: Nishida
authors.affiliation: h Department of Ophthalmology and Visual Science , Graduate School of Medical Sciences, Kumamoto University , Kumamoto , Japan .|i Department of Ophthalmology, Faculty of Medical Science , University of Fukui , Fukui , Japan .
authors.forename: Masaru
authors.initials: M
authors.lastname: Inatani
authors.affiliation: h Department of Ophthalmology and Visual Science , Graduate School of Medical Sciences, Kumamoto University , Kumamoto , Japan .
authors.forename: Hidenobu
authors.initials: H
authors.lastname: Tanihara
authors.affiliation: j Department of Ophthalmology , University of Tokyo School of Medicine , Tokyo , Japan .
authors.forename: Makoto
authors.initials: M
authors.lastname: Aihara
authors.affiliation: j Department of Ophthalmology , University of Tokyo School of Medicine , Tokyo , Japan .
authors.forename: Makoto
authors.initials: M
authors.lastname: Araie
authors.affiliation: k Division of Ophthalmology and Visual Science , Graduate School of Medical and Dental Sciences, Niigata University , Niigata , Japan .
authors.forename: Takeo
authors.initials: T
authors.lastname: Fukuchi
authors.affiliation: k Division of Ophthalmology and Visual Science , Graduate School of Medical and Dental Sciences, Niigata University , Niigata , Japan .
authors.forename: Haruki
authors.initials: H
authors.lastname: Abe
authors.affiliation: l Department of Ophthalmology and Visual Science , Kanazawa University Graduate School of Medical Science , Kanazawa , Ishikawa , Japan .
authors.forename: Tomomi
authors.initials: T
authors.lastname: Higashide
authors.affiliation: l Department of Ophthalmology and Visual Science , Kanazawa University Graduate School of Medical Science , Kanazawa , Ishikawa , Japan .
authors.forename: Kazuhisa
authors.initials: K
authors.lastname: Sugiyama
authors.affiliation: m Department of Ophthalmology and Visual Science , Graduate School of Biomedical Sciences, Hiroshima University , Hiroshima , Japan .
authors.forename: Takashi
authors.initials: T
authors.lastname: Kanamoto
authors.affiliation: m Department of Ophthalmology and Visual Science , Graduate School of Biomedical Sciences, Hiroshima University , Hiroshima , Japan .
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Kiuchi
authors.affiliation: n Department of Ophthalmology , Tajimi Municipal Hospital , Gifu , Japan .
authors.forename: Aiko
authors.initials: A
authors.lastname: Iwase
authors.affiliation: o Department of Ophthalmology , Hokkaido University Graduate School of Medicine , Sapporo , Hokkaido , Japan , and.
authors.forename: Shinki
authors.initials: S
authors.lastname: Chin
authors.affiliation: o Department of Ophthalmology , Hokkaido University Graduate School of Medicine , Sapporo , Hokkaido , Japan , and.
authors.forename: Shigeaki
authors.initials: S
authors.lastname: Ohno
authors.affiliation: p Department of Genetic Information, Division of Molecular Life Science , Tokai University School of Medicine , Sagamihara , Kanagawa , Japan.
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Inoko
authors.affiliation: a Department of Ophthalmology , Yokohama City University School of Medicine , Yokohama , Kanagawa , Japan .
authors.forename: Nobuhisa
authors.initials: N
authors.lastname: Mizuki
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D050580:Excitatory Amino Acid Transporter 3 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D060005:Genotyping Techniques; D006801:Humans; D007564:Japan / Q000453:epidemiology; D057066:Low Tension Glaucoma / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: D050580:Excitatory Amino Acid Transporter 3; C493400:SLC1A1 protein, human
keywords: Association study; SLC1A1; normal tension glaucoma; polymorphism