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http://purl.uniprot.org/citations/18535602http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/18535602http://www.w3.org/2000/01/rdf-schema#comment"

Purpose

To ascertain and define the position of a potential disease susceptibility gene around D21S0083i prioritized during our previous whole genome case-control association analysis with 27,158 microsatellite markers, in Japanese high-myopia patients.

Methods

520 high myopic patients and 520 healthy controls were genotyped using 39 SNPs distributed around D21S0083i on chromosome 21q22.3.

Results

Only 1 SNP (rs2839471) of 39 SNPs was significant after correction for multiple testing (allele T: P=0.00027, Pc=0.01, OR=1.684). The SNP (rs2839471) did not reside in haplotype blocks constructed by the pair-wise linkage disequilibrium between the SNPs.

Conclusions

The SNP (rs2839471) is suggested to be located in the frequent recombinant region within UMODL1. Together this region might play a critical role for susceptibility to high myopia, and warrants further confirming studies and investigations as to the mechanisms by which UMODL1 may contribute to myopia."xsd:string
http://purl.uniprot.org/citations/18535602http://purl.org/dc/terms/identifier"doi:10.1038/eye.2008.152"xsd:string
http://purl.uniprot.org/citations/18535602http://purl.uniprot.org/core/author"Inoko H."xsd:string
http://purl.uniprot.org/citations/18535602http://purl.uniprot.org/core/author"Ohno S."xsd:string
http://purl.uniprot.org/citations/18535602http://purl.uniprot.org/core/author"Shiota T."xsd:string
http://purl.uniprot.org/citations/18535602http://purl.uniprot.org/core/author"Oka A."xsd:string
http://purl.uniprot.org/citations/18535602http://purl.uniprot.org/core/author"Ota M."xsd:string
http://purl.uniprot.org/citations/18535602http://purl.uniprot.org/core/author"Mizuki N."xsd:string
http://purl.uniprot.org/citations/18535602http://purl.uniprot.org/core/author"Meguro A."xsd:string
http://purl.uniprot.org/citations/18535602http://purl.uniprot.org/core/author"Okada E."xsd:string
http://purl.uniprot.org/citations/18535602http://purl.uniprot.org/core/author"Mok J."xsd:string
http://purl.uniprot.org/citations/18535602http://purl.uniprot.org/core/author"Nishizaki R."xsd:string
http://purl.uniprot.org/citations/18535602http://purl.uniprot.org/core/date"2009"xsd:gYear
http://purl.uniprot.org/citations/18535602http://purl.uniprot.org/core/name"Eye (Lond)"xsd:string
http://purl.uniprot.org/citations/18535602http://purl.uniprot.org/core/pages"222-229"xsd:string
http://purl.uniprot.org/citations/18535602http://purl.uniprot.org/core/title"New susceptibility locus for high myopia is linked to the uromodulin-like 1 (UMODL1) gene region on chromosome 21q22.3."xsd:string
http://purl.uniprot.org/citations/18535602http://purl.uniprot.org/core/volume"23"xsd:string
http://purl.uniprot.org/citations/18535602http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/18535602
http://purl.uniprot.org/citations/18535602http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/18535602
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http://purl.uniprot.org/uniprot/#_Q6L9N1-mappedCitation-18535602http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18535602
http://purl.uniprot.org/uniprot/#_Q6L9N2-mappedCitation-18535602http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18535602
http://purl.uniprot.org/uniprot/#_Q6L9N3-mappedCitation-18535602http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18535602
http://purl.uniprot.org/uniprot/#_Q6L9N4-mappedCitation-18535602http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18535602
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