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 Orofacial clefts. The EFO term progranulin measurement 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: progranulin measurement

SCORE TYPE:

P-Value

THRESHOLD:

<= 0.05

GENES IN THRESHOLD:

25

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-10-22

SPECIES:

AUTHORS:

KU Ludwig, E Mangold, S Herms, S Nowak, H Reutter, A Paul, J Becker, R Herberz, T AlChawa, E Nasser, AC Böhmer, M Mattheisen, MA Alblas, S Barth, N Kluck, C Lauster, B Braumann, RH Reich, A Hemprich, S Pötzsch, B Blaumeiser, N Daratsianos, T Kreusch, JC Murray, ML Marazita, I Ruczinski, AF Scott, TH Beaty, FJ Kramer, TF Wienker, RP Steegers-Theunissen, M Rubini, PA Mossey, P Hoffmann, C Lange, S Cichon, P Propping, M Knapp, MM Nöthen

TITLE:

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

JOURNAL:

Nature genetics Sep 2012, Vol 44, pp. 968-71

ABSTRACT:

We have conducted the first meta-analyses for nonsyndromic cleft lip with or without cleft palate (NSCL/P) using data from the two largest genome-wide association studies published to date. We confirmed associations with all previously identified loci and identified six additional susceptibility regions (1p36, 2p21, 3p11.1, 8q21.3, 13q31.1 and 15q22). Analysis of phenotypic variability identified the first specific genetic risk factor for NSCLP (nonsyndromic cleft lip plus palate) (rs8001641; P(NSCLP) = 6.51 × 10(-11); homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84-3.16). PUBMED: 22863734
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