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

Hdl Handle:
http://hdl.handle.net/10147/206364
Title:
Common variant in myocilin gene is associated with high myopia in isolated population of Korcula Island, Croatia.
Authors:
Vatavuk, Zoran; Skunca Herman, Jelena; Bencic, Goran; Andrijevic Derk, Biljana; Lacmanovic Loncar, Valentina; Petric Vickovic, Ivanka; Bucan, Kajo; Mandic, Kresimir; Mandic, Antonija; Skegro, Ivan; Pavicic Astalos, Jasna; Merc, Ivana; Martinovic, Miljenka; Kralj, Petra; Knezevic, Tamara; Barac-Juretic, Katja; Zgaga, Lina
Affiliation:
Department of Ophthalmology, Sisters of Mercy University Hospital, Vinogradska, 29, Zagreb, Croatia. zvatavuk@hotmail.com
Citation:
Croat Med J. 2009 Feb;50(1):17-22.
Journal:
Croatian medical journal
Issue Date:
31-Jan-2012
URI:
http://hdl.handle.net/10147/206364
PubMed ID:
19260140
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.
Language:
eng
MeSH:
Adolescent; Collagen Type I/genetics; 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
ISSN:
1332-8166 (Electronic); 0353-9504 (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorVatavuk, Zoranen_GB
dc.contributor.authorSkunca Herman, Jelenaen_GB
dc.contributor.authorBencic, Goranen_GB
dc.contributor.authorAndrijevic Derk, Biljanaen_GB
dc.contributor.authorLacmanovic Loncar, Valentinaen_GB
dc.contributor.authorPetric Vickovic, Ivankaen_GB
dc.contributor.authorBucan, Kajoen_GB
dc.contributor.authorMandic, Kresimiren_GB
dc.contributor.authorMandic, Antonijaen_GB
dc.contributor.authorSkegro, Ivanen_GB
dc.contributor.authorPavicic Astalos, Jasnaen_GB
dc.contributor.authorMerc, Ivanaen_GB
dc.contributor.authorMartinovic, Miljenkaen_GB
dc.contributor.authorKralj, Petraen_GB
dc.contributor.authorKnezevic, Tamaraen_GB
dc.contributor.authorBarac-Juretic, Katjaen_GB
dc.contributor.authorZgaga, Linaen_GB
dc.date.accessioned2012-01-31T16:38:16Z-
dc.date.available2012-01-31T16:38:16Z-
dc.date.issued2012-01-31T16:38:16Z-
dc.identifier.citationCroat Med J. 2009 Feb;50(1):17-22.en_GB
dc.identifier.issn1332-8166 (Electronic)en_GB
dc.identifier.issn0353-9504 (Linking)en_GB
dc.identifier.pmid19260140en_GB
dc.identifier.urihttp://hdl.handle.net/10147/206364-
dc.description.abstractAIM: 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.en_GB
dc.language.isoengen_GB
dc.subject.meshAdolescenten_GB
dc.subject.meshCollagen Type I/geneticsen_GB
dc.subject.meshCroatiaen_GB
dc.subject.meshCytoskeletal Proteins/*geneticsen_GB
dc.subject.meshEye Proteins/*geneticsen_GB
dc.subject.meshFemaleen_GB
dc.subject.mesh*Genetics, Populationen_GB
dc.subject.meshGlycoproteins/*geneticsen_GB
dc.subject.meshHumansen_GB
dc.subject.meshMaleen_GB
dc.subject.meshMyopia/diagnosis/etiology/*genetics/physiopathologyen_GB
dc.subject.meshPolymorphism, Single Nucleotide/*geneticsen_GB
dc.subject.meshYoung Adulten_GB
dc.titleCommon variant in myocilin gene is associated with high myopia in isolated population of Korcula Island, Croatia.en_GB
dc.contributor.departmentDepartment of Ophthalmology, Sisters of Mercy University Hospital, Vinogradska, 29, Zagreb, Croatia. zvatavuk@hotmail.comen_GB
dc.identifier.journalCroatian medical journalen_GB
dc.description.provinceMunster-

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