Izvorni znanstveni članak
Common Variant in Myocilin Gene Is Associated with High Myopia in Isolated Population of Korčula Island, Croatia
Zoran Vatavuk
; University Department of Ophtalmology, Sisters of Mercy University Hospital, Zagreb, Croatia
Jelena Škunca Herman
; University Department of Ophtalmology, Sisters of Mercy University Hospital, Zagreb, Croatia
Goran Benčić
; University Department of Ophtalmology, Sisters of Mercy University Hospital, Zagreb, Croatia
Biljana Andrijević Derk
; University Department of Ophtalmology, Sisters of Mercy University Hospital, Zagreb, Croatia
Valentina Lacmanović Lončar
; University Department of Ophtalmology, Sisters of Mercy University Hospital, Zagreb, Croatia
Ivanka Petric Vicković
; University Department of Ophtalmology, Sisters of Mercy University Hospital, Zagreb, Croatia
Kajo Bućan
; Department of Ophtalmology, Split Universoty Hospital and School of Medicine, Split, Croatia
Krešimir Mandić
; Health Polytechnic, Zagreb, Croatia
Antonija Mandić
; Health Polytechnic, Zagreb, Croatia
Ivan Škegro
; University Department of Ophtalmology, Sisters of Mercy University Hospital, Zagreb, Croatia
Jasna Pavičić Astaloš
; Department of Ophtalmology, Dr. Tomislav Bardek General Hospital, Koprivnica, Croatia
Ivana Merc
; Department of Ophtalmology, Dr. Tomislav Bardek General Hospital, Koprivnica, Croatia
Miljenka Martinović
; University Department of Ophtalmology, Sisters of Mercy University Hospital, Zagreb, Croatia
Petra Kralj
; University Department of Ophtalmology, Sisters of Mercy University Hospital, Zagreb, Croatia
Tamara Knežević
; University Department of Ophtalmology, Sisters of Mercy University Hospital, Zagreb, Croatia
Katja Barać-Juretić
; Institute of Public Health, Split, Croatia
Lina Zgaga
; Department of Medical Statistics Epidermiology and Medical Informatics, Andrija Štampar School of Public Health, Zagreb, Croatia
Sažetak
Aim 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 Korčula, 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).
Conclusion 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 underpowered
sample, further research and replication of these
results is needed.
Ključne riječi
high myopia; refraction; isolated; candidate gene; SNP; Korcula; Croatia
Hrčak ID:
38303
URI
Datum izdavanja:
15.2.2009.
Posjeta: 1.433 *