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.
journal_name
Croat Med Jjournal_title
Croatian medical journalauthors
Vatavuk Z,Skunca Herman J,Bencić G,Andrijević Derk B,Lacmanović Loncar V,Petric Vicković I,Bucan K,Mandić K,Mandić A,Skegro I,Pavicić Astalos J,Merc I,Martinović M,Kralj P,Knezević T,Barać-Juretić K,Zgaga Ldoi
10.3325/cmj.2009.50.17subject
Has Abstractpub_date
2009-02-01 00:00:00pages
17-22issue
1eissn
0353-9504issn
1332-8166journal_volume
50pub_type
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journal_title:Croatian medical journal
pub_type: 杂志文章
doi:
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journal_title:Croatian medical journal
pub_type: 杂志文章
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更新日期:2006-08-01 00:00:00
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doi:
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