Common variant in myocilin gene is associated with high myopia in isolated population of Korcula Island, Croatia.
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.
Vatavuk
Zoran
Z
Department of Ophthalmology, Sisters of Mercy University Hospital, Vinogradska 29, Zagreb, Croatia. zvatavuk@hotmail.com
Skunca Herman
Jelena
J
Bencić
Goran
G
Andrijević Derk
Biljana
B
Lacmanović Loncar
Valentina
V
Petric Vicković
Ivanka
I
Bucan
Kajo
K
Mandić
Kresimir
K
Mandić
Antonija
A
Skegro
Ivan
I
Pavicić Astalos
Jasna
J
Merc
Ivana
I
Martinović
Miljenka
M
Kralj
Petra
P
Knezević
Tamara
T
Barać-Juretić
Katja
K
Zgaga
Lina
L
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
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