title: LOXL1 variants in elderly Japanese patients with exfoliation syndrome/glaucoma, primary open-angle glaucoma, normal tension glaucoma, and cataract.
abstract: OBJECTIVE
  To evaluate the association of lysyl oxidase like 1 (LOXL1) gene variants in Japanese patients with open-angle glaucoma.
  
  
  METHODS
  We evaluated the association of three LOXL1 variants (rs1048661, rs3825942, and rs2165241) in 142 Japanese patients with exfoliation syndrome (EX; n=59) and exfoliation glaucoma (EG; n=83) as well as in 251 control patients aged 70 years or older with primary open-angle glaucoma (PG; n=40), normal tension glaucoma (NG; n=54), and cataract (CT; n=157).
  
  
  RESULTS
  In comparison with the CT group, the single nucleotide polymorphisms (SNPs) showed significant association with EX, EG, and EX+EG. The odds ratio (OR)=19.71-28.23 and p=1.69 x 10(-23) - 3.00 x 10(-45) for allele T of rs1048661; OR=28.21-39.78 and p=1.77 x 10(-8) - 2.42 x 10(-22) for allele G of rs3825942; and OR=16.59-23.40 and p=4.79 x 10(-5) - 1.08 x 10(-9) for allele C of rs2165241. In comparison with the controls (CT+PG+NG), the haplotype rs1048661/rs3825942 (T/G) was significantly associated with EX+EG (p=8.27 x 10(-44)), and haplotype G/A had a significant protective effect (p=2.25 x 10(-14)). None of the three SNPs showed significant differences between the EX and EG groups or between the PG and NG groups.
  
  
  CONCLUSIONS
  These SNPs are associated with exfoliation syndrome/glaucoma in the Japanese population. The risk alleles in rs1048661 and rs2165241 are different from other populations. Additional genetic or environmental risk factors other than these LOXL1 SNPs could be associated with the development of exfoliation syndrome as well as exfoliation glaucoma among exfoliation syndrome patients.
authors.affiliation: Department of Ophthalmology, Shimane University Faculty of Medicine, Izumo, Shimane, Japan.
authors.forename: Masaki
authors.initials: M
authors.lastname: Tanito
authors.forename: Masayoshi
authors.initials: M
authors.lastname: Minami
authors.forename: Masakazu
authors.initials: M
authors.lastname: Akahori
authors.forename: Sachiko
authors.initials: S
authors.lastname: Kaidzu
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Takai
authors.forename: Akihiro
authors.initials: A
authors.lastname: Ohira
authors.forename: Takeshi
authors.initials: T
authors.lastname: Iwata
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002386:Cataract / Q000201:enzymology / Q000235:genetics*; D017889:Exfoliation Syndrome / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005901:Glaucoma / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D005902:Glaucoma, Open-Angle / Q000201:enzymology / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human