title: Common variant in myocilin gene is associated with high myopia in isolated population of Korcula Island, Croatia.
abstract: OBJECTIVE
  To study the association between genetic variants in myocilin and collagen type I alpha 1 genes and high myopia in an isolated island population.
  
  
  METHODS
  A total of 944 examinees from the genetic epidemiology study conducted on the island of Korcula, Croatia, were included in the study. We selected 2 short nucleotide polymorphisms (SNP) available in our genome-wide scan set of SNPs that were previously associated with high myopia and used them to replicate previous claims of possible association.
  
  
  RESULTS
  Nineteen cases of high myopia, defined as the refraction of </=-6.00 diopters, were identified and included in the analysis. We showed that rs2075555 in the COL1A1 gene was not associated with high myopia. In contrast, rs2421853 in the myocilin gene was significantly associated in both bivariate (P=0.006) and age- and sex-adjusted analysis (P=0.049).
  
  
  CONCLUSIONS
  Myocilin seems to be a very strong candidate for explaining some of the pathophysiological pathways leading to the development of both glaucoma and high myopia. As our finding was obtained in a relatively under-powered sample, further research and replication of these results is needed.
authors.affiliation: Department of Ophthalmology, Sisters of Mercy University Hospital, Vinogradska 29, Zagreb, Croatia. zvatavuk@hotmail.com
authors.forename: Zoran
authors.initials: Z
authors.lastname: Vatavuk
authors.forename: Jelena
authors.initials: J
authors.lastname: Skunca Herman
authors.forename: Goran
authors.initials: G
authors.lastname: Bencić
authors.forename: Biljana
authors.initials: B
authors.lastname: Andrijević Derk
authors.forename: Valentina
authors.initials: V
authors.lastname: Lacmanović Loncar
authors.forename: Ivanka
authors.initials: I
authors.lastname: Petric Vicković
authors.forename: Kajo
authors.initials: K
authors.lastname: Bucan
authors.forename: Kresimir
authors.initials: K
authors.lastname: Mandić
authors.forename: Antonija
authors.initials: A
authors.lastname: Mandić
authors.forename: Ivan
authors.initials: I
authors.lastname: Skegro
authors.forename: Jasna
authors.initials: J
authors.lastname: Pavicić Astalos
authors.forename: Ivana
authors.initials: I
authors.lastname: Merc
authors.forename: Miljenka
authors.initials: M
authors.lastname: Martinović
authors.forename: Petra
authors.initials: P
authors.lastname: Kralj
authors.forename: Tamara
authors.initials: T
authors.lastname: Knezević
authors.forename: Katja
authors.initials: K
authors.lastname: Barać-Juretić
authors.forename: Lina
authors.initials: L
authors.lastname: Zgaga
mesh_terms: D000293:Adolescent; D024042:Collagen Type I / Q000235:genetics; D000090602:Collagen Type I, alpha 1 Chain; D017523:Croatia; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005828:Genetics, Population; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009216:Myopia / Q000175:diagnosis / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D055815:Young Adult; D000099179:Myocilin
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin; C000716127:COL1A1 protein, human