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J Pediatr. 2009 Dec;155(6):909-13. doi: 10.1016/j.jpeds.2009.06.020. Epub 2009 Aug 4.

A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.

Author information

1
Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104-4318, USA. grants@chop.edu

Abstract

OBJECTIVE:

To identify, in a non-hypothesis manner, novel genetic factors associated with nonsyndromic cleft lip with or without cleft palate (NSCL/P).

STUDY DESIGN:

We performed a genome-wide association study in a pediatric cohort of European decent consisting of 111 NSCL/P cases and 5951 control subjects. All subjects were consecutively recruited from the Greater Philadelphia area from 2006 to 2009. High throughput genome-wide single nucleotide polymorphism genotyping was carried out with the Illumina Infinium II HumanHap550 BeadChip technology.

RESULTS:

We observed association at the genome-wide significance level with SNP rs987525 at a locus on 8q24, which harbors no characterized genes to date (P = 9.18 x 10(-8); odds ratio = 2.09, 95% confidence interval = 1.59 to 2.76). While searching for a replication cohort, the same genetic determinant was established through a genome-wide association study of NSCL/P in Germany, so this previous report acts as a de novo replication for our independent observation outlined here.

CONCLUSIONS:

These results strongly suggest that a locus on 8q24 is involved in the pathogenesis of NSCL/P.

PMID:
19656524
DOI:
10.1016/j.jpeds.2009.06.020
[Indexed for MEDLINE]
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