Common variant in myocilin gene is associated with high myopia in isolated population of Korcula Island, Croatia.
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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 ConclusionMyocilin 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.
SUBMITTER: Vatavuk Z
PROVIDER: S-EPMC2657568 | biostudies-literature | 2009 Feb
REPOSITORIES: biostudies-literature
Publications
Common variant in myocilin gene is associated with high myopia in isolated population of Korcula Island, Croatia.
Vatavuk Zoran Z 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
Croatian medical journal 20090201 1
<h4>Aim</h4>To study the association between genetic variants in myocilin and collagen type I alpha 1 genes and high myopia in an isolated island population.<h4>Methods</h4>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 p ...[more]
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Project description:PurposeThe crystallin beta A4 (CRYBA4) gene variant, rs2009066, was previously reported to be associated with high myopia in a southern Chinese population. In the present study, we investigated whether CRYBA4 variants were associated with high myopia in a Japanese population.MethodsWe recruited 1,063 Japanese patients with high myopia (spherical equivalent [SE] ≤-9.00 D in both eyes) and 1,009 healthy Japanese subjects (SE >-1.00 D). We genotyped rs2009066 and three tagging single-nucleotide polymorphisms (SNPs), rs16982456, rs2071861, and rs4276, in the CRYBA4 region.ResultsWe did not find any significant association between these four SNPs and high myopia in an allele analysis. However, rs2009066 and rs2071861, which were in strong linkage disequilibrium (LD; r2=0.86), showed a marginal association with high myopia in the recessive genotype model of risk alleles (rs2009066 G allele: P=0.032, odds ratio [OR] =1.31; rs2071861 A allele: P=0.037, OR =1.31). Nevertheless, this association became insignificant after correcting for multiple testing (Pc >0.05).ConclusionThis study showed no significant association between CRYBA4 variants and high myopia in a Japanese population. Our findings did not correspond with a previous study. Further genetic studies with other populations are needed to elucidate a potential contribution of the CRYBA4 region in the development of high myopia.
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