Naslov
Common variant in myocilin gene is associated with high myopia in isolated population of Korcula Island, Croatia

Autori
Vatavuk, Zoran ; Škunca-Herman, Jelena ; Benčić, Goran ; Andrijević-Derk, Biljana ; Lacmanović-Lončar, Valentina ; Petrić-Vicković, Ivanka ; Bućan, Kajo ; Mandić, Krešimir ; Mandić, Antonija ; Škegro, Ivan ; Pavičić-Astaloš, Jasna ; Merc, Ivana ; Martinović, Miljenka ; Kralj, Petra ; Knežević, Tamara ; Barać-Juretić, Katja ; Zgaga, Lina

Izvornik
Croatian Medical Journal (0353-9504) 50 (2009), 1; 17-22

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
gene; myocillin; myopia; glaucoma; isolate populations

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 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). 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 under-powered sample, further research and replication of these results is needed.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti, Javno zdravstvo i zdravstvena zaštita

POVEZANOST RADA