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

Abstract

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.

• Authors: Zoran Vatavuk, Jelena Skunca Herman, Goran Bencić, Biljana Andrijević Derk, Valentina Lacmanović Loncar, Ivanka Petric Vicković, Kajo Bucan, Kresimir Mandić, Antonija Mandić, Ivan Skegro, Jasna Pavicić Astalos, Ivana Merc, Miljenka Martinović, Petra Kralj, Tamara Knezević, Katja Barać-Juretić, Lina Zgaga
• Journal: Croatian medical journal (Croat Med J) Vol. 50 Issue 1 Pg. 17-22 (Feb 2009) ISSN: 1332-8166 [Electronic] Croatia
• PMID: 19260140 (Publication Type: Journal Article)

Chemical References

• COL1A1 protein, human
• Collagen Type I
• Collagen Type I, alpha 1 Chain
• Cytoskeletal Proteins
• Eye Proteins
• Glycoproteins
• trabecular meshwork-induced glucocorticoid response protein

Topics

• Adolescent
• Collagen Type I (genetics)
• Collagen Type I, alpha 1 Chain
• Croatia
• Cytoskeletal Proteins (genetics)
• Eye Proteins (genetics)
• Female
• Genetics, Population
• Glycoproteins (genetics)
• Humans
• Male
• Myopia (diagnosis, etiology, genetics, physiopathology)
• Polymorphism, Single Nucleotide (genetics)
• Young Adult