DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Sagittal craniosynostosis. The EFO term Isolated scaphocephaly was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: Isolated scaphocephaly

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

CM Justice, G Yagnik, Y Kim, I Peter, EW Jabs, M Erazo, X Ye, E Ainehsazan, L Shi, ML Cunningham, V Kimonis, T Roscioli, SA Wall, AO Wilkie, J Stoler, JT Richtsmeier, Y Heuzé, PA Sanchez-Lara, MF Buckley, CM Druschel, JL Mills, M Caggana, PA Romitti, DM Kay, C Senders, PJ Taub, OD Klein, J Boggan, M Zwienenberg-Lee, C Naydenov, J Kim, AF Wilson, SA Boyadjiev

TITLE:

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.

JOURNAL:

Nature genetics Dec 2012, Vol 44, pp. 1360-4

ABSTRACT:

Sagittal craniosynostosis is the most common form of craniosynostosis, affecting approximately one in 5,000 newborns. We conducted, to our knowledge, the first genome-wide association study for nonsyndromic sagittal craniosynostosis (sNSC) using 130 non-Hispanic case-parent trios of European ancestry (NHW). We found robust associations in a 120-kb region downstream of BMP2 flanked by rs1884302 (P = 1.13 × 10(-14), odds ratio (OR) = 4.58) and rs6140226 (P = 3.40 × 10(-11), OR = 0.24) and within a 167-kb region of BBS9 between rs10262453 (P = 1.61 × 10(-10), OR = 0.19) and rs17724206 (P = 1.50 × 10(-8), OR = 0.22). We replicated the associations to both loci (rs1884302, P = 4.39 × 10(-31) and rs10262453, P = 3.50 × 10(-14)) in an independent NHW population of 172 unrelated probands with sNSC and 548 controls. Both BMP2 and BBS9 are genes with roles in skeletal development that warrant functional studies to further understand the etiology of sNSC. PUBMED: 23160099
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