Journal article
GWAS reveals new recessive loci associated with non-syndromic facial clefting
European journal of medical genetics, Vol.55(10), pp.510-514
10/2012
DOI: 10.1016/j.ejmg.2012.06.005
PMCID: PMC3521569
PMID: 22750566
Abstract
We have applied a GWAS to 40 consanguineous families segregating cases of non-syndromic cleft lip with or without cleft palate (NS CL/P) (a total of 160 affected and unaffected individuals) in order to trace potential recessive loci that confer susceptibility to this common facial malformation. Pedigree-based association test (PBAT) analyses reported nominal evidence of association and linkage over SNP markers located at 11q25 (rs4937877, P = 2.7 × 10−6), 19p12 (rs4324267, P = 1.6 × 10−5), 5q14.1 (rs4588572, P-value = 3.36 × 10−5), and 15q21.1 (rs4774497, P = 1.08 × 10−4). Using the Versatile Gene-Based Association Study to complement the PBAT results, we found clusters of markers located at chromosomes 19p12, 11q25, and 8p23.2 overcome the threshold for GWAS significance (P < 1 × 10−7). From this study, new recessive loci implicated in NS CL/P include: B3GAT1, GLB1L2, ZNF431, ZNF714, and CSMD1, even though the functional association with the genesis of NS CL/P remains to be elucidated. These results emphasize the importance of using homogeneous populations, phenotypes, and family structures for GWAS combined with gene-based association analyses, and should encourage. other researchers to evaluate these genes on independent patient samples affected by NS CL/P.
Details
- Title: Subtitle
- GWAS reveals new recessive loci associated with non-syndromic facial clefting
- Creators
- Mauricio Camargo - Universidad de AntioquiaDora Rivera - Universidad de AntioquiaLina Moreno - University of IowaAndrew C. Lidral - University of IowaUrsula Harper - National Human Genome Research InstituteMarypat Jones - National Human Genome Research InstituteBenjamin D. Solomon - National Human Genome Research InstituteErich Roessler - National Human Genome Research InstituteJorge I. Vélez - National Human Genome Research InstituteAriel F. Martinez - National Human Genome Research InstituteSettara C. Chandrasekharappa - National Human Genome Research InstituteMauricio Arcos-Burgos - Australian National University
- Resource Type
- Journal article
- Publication Details
- European journal of medical genetics, Vol.55(10), pp.510-514
- DOI
- 10.1016/j.ejmg.2012.06.005
- PMID
- 22750566
- PMCID
- PMC3521569
- NLM abbreviation
- Eur J Med Genet
- ISSN
- 1769-7212
- eISSN
- 1878-0849
- Publisher
- Elsevier Masson SAS
- Language
- English
- Date published
- 10/2012
- Academic Unit
- Orthodontics; Craniofacial Anomalies Research Center
- Record Identifier
- 9984367652902771
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