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PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2011-1-21
pubmed:abstractText
Central corneal thickness (CCT) is a risk factor of glaucoma, the most common cause of irreversible blindness worldwide. The identification of genetic determinants affecting CCT in the normal population will provide insights into the mechanisms underlying the association between CCT and glaucoma, as well as the pathogenesis of glaucoma itself. We conducted two genome-wide association studies for CCT in 5080 individuals drawn from two ethnic populations in Singapore (2538 Indian and 2542 Malays) and identified novel genetic loci significantly associated with CCT (COL8A2 rs96067, p(meta) = 5.40 × 10?¹³, interval of RXRA-COL5A1 rs1536478, p(meta) = 3.05 × 10??). We confirmed the involvement of a previously reported gene for CCT and brittle cornea syndrome (ZNF469) [rs9938149 (p(meta) = 1.63 × 10?¹?) and rs12447690 (p(meta) = 1.92 × 10?¹?)]. Evidence of association exceeding the formal threshold for genome-wide significance was observed at rs7044529, an SNP located within COL5A1 when data from this study (n = 5080, P = 0.0012) were considered together with all published data (reflecting an additional 7349 individuals, p(Fisher) = 1.5 × 10??). These findings implicate the involvement of collagen genes influencing CCT and thus, possibly the pathogenesis of glaucoma.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1460-2083
pubmed:author
pubmed:issnType
Electronic
pubmed:day
15
pubmed:volume
20
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
649-58
pubmed:meshHeading
pubmed-meshheading:21098505-Adult, pubmed-meshheading:21098505-Aged, pubmed-meshheading:21098505-Aged, 80 and over, pubmed-meshheading:21098505-Asian Continental Ancestry Group, pubmed-meshheading:21098505-Cohort Studies, pubmed-meshheading:21098505-Collagen, pubmed-meshheading:21098505-Collagen Type VIII, pubmed-meshheading:21098505-Cornea, pubmed-meshheading:21098505-Female, pubmed-meshheading:21098505-Genome-Wide Association Study, pubmed-meshheading:21098505-Glaucoma, pubmed-meshheading:21098505-Humans, pubmed-meshheading:21098505-Malaysia, pubmed-meshheading:21098505-Male, pubmed-meshheading:21098505-Middle Aged, pubmed-meshheading:21098505-Polymorphism, Single Nucleotide, pubmed-meshheading:21098505-Quantitative Trait Loci, pubmed-meshheading:21098505-Risk Factors, pubmed-meshheading:21098505-Singapore
pubmed:year
2011
pubmed:articleTitle
Collagen-related genes influence the glaucoma risk factor, central corneal thickness.
pubmed:affiliation
Singapore Eye Research Institute, Singapore. eranga.n.v@seri.com.sg
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't, Meta-Analysis