Linked Life Data

19622345

Source:http://linkedlifedata.com/resource/pubmed/id/19622345

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2009-8-18
pubmed:abstractText
Although the locations of many common deletion variants in the human genome are unknown, such deletions may be causative in rare disorders. Deletions can be mapped through the identification of Mendelian inconsistencies in pedigrees. Data for a total of 341,577 SNPs from an ACD family cohort (n=551) and 341,039 SNPs from a Korean-Vietnamese family cohort (n=554) were collected for a genome-wide association study using Illumina 370K-Duo Beadchips((R)). In the present study, a Mendelian inconsistency analysis of genotype data identified 1029 deletion variants in Korean and Korean-Vietnam family cohorts of 404 trios comprising 1105 individuals. Small-deletion copy number variations adjacent to 10 deletion variants were then validated by the real-time quantitative polymerase chain reaction. The expected copy numbers of each deletion variant were directly matched to its genotype cluster image. Deletion variants were also in strong linkage disequilibrium with nearby SNPs. To determine the overall contribution of the 1029 deletion variants, we analyzed case-control trio associations with the risk for Avellino corneal dystrophy. One SNP marker (rs885945) neighboring the gene encoding major histocompatibility complex class I F (HLA-F) was significantly associated with the risk of Avellino corneal dystrophy (P=0.0003). rs885945 showed high LD with SNPs within the HLA-F gene. Therefore, HLA-F may be a potential candidate gene for Avellino corneal dystrophy.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1090-2104
pubmed:author
pubmed:issnType
Electronic
pubmed:day
2
pubmed:volume
387
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
688-93
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Genetic associations of common deletion polymorphisms in families with Avellino corneal dystrophy.
pubmed:affiliation
Center for Genome Sciences, National Institute of Health, Tongil-Lo, Eunpyung-Gu, Seoul, Republic of Korea. mpark@nih.go.kr
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't