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 Nonsyndromic cleft lip with or without cleft palate. The EFO term cleft palate, cleft lip 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: cleft palate, cleft lip

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

Y Sun, Y Huang, A Yin, Y Pan, Y Wang, C Wang, Y Du, M Wang, F Lan, Z Hu, G Wang, M Jiang, J Ma, X Zhang, H Ma, J Ma, W Zhang, Q Huang, Z Zhou, L Ma, Y Li, H Jiang, L Xie, Y Jiang, B Shi, J Cheng, H Shen, L Wang, Y Yang

TITLE:

Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate.

JOURNAL:

Nature communications Mar 2015, Vol 6, pp. 6414

ABSTRACT:

Nonsyndromic cleft lip with or without a cleft palate (NSCL/P) is among the most common human congenital birth defects and imposes a substantial physical and financial burden on affected individuals. Here, we conduct a case-control-based GWAS followed by two rounds of replication; we include six independent cohorts from China to elucidate the genetic architecture of NSCL/P in Chinese populations. Using this combined analysis, we identify a new locus at 16p13.3 associated with NSCL/P: rs8049367 between CREBBP and ADCY9 (odds ratio=0.74, P=8.98 × 10(-12)). We confirm that the reported loci at 1q32.2, 10q25.3, 17p13.1 and 20q12 are also involved in NSCL/P development in Chinese populations. Our results provide additional evidence that the rs2235371-related haplotype at 1q32.2 could play a more important role than the previously identified causal variant rs642961 in Chinese populations. These findings provide information on the genetic basis and mechanisms of NSCL/P. PUBMED: 25775280
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