Journal of medical genetics · 2014
Genome-wide association study identifies new disease loci for isolated clubfoot.
СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Zhang Tian-Xiao, Haller Gabe, Lin Peng, Alvarado David M, Hecht Jacqueline T, Blanton Susan H, Stephens Richards B, Rice John P, Dobbs Matthew B, Gurnett Christina A
Аннотация
BACKGROUND: Clubfoot is a common congenital birth defect with complex inheritance patterns. Currently, the genetic and morphological basis of clubfoot is poorly understood. To identify genetic risk factors associated with clubfoot, we performed a genome-wide association study of common genetic variants.
METHODS: The DNA of 396 isolated clubfoot patients and 1000 controls of European descent was genotyped for >600 000 single nucleotide polymorphisms (SNP) using the Affymetrix 6.0 array. Replication was performed with an independent cohort of 370 isolated clubfoot cases and 363 controls of European descent.
RESULTS: Strongest evidence for an association of clubfoot was found with an intergenic SNP on chromosome 12q24.31 between NCOR2 and ZNF664 (rs7969148, OR=0.58, p=1.25×10⁻⁵) that was significant on replication (combined OR=0.63, p=1.90×10⁻⁷). Additional suggestive SNPs were identified near FOXN3, SORCS1 and MMP7/TMEM123 that also confirmed on replication.
CONCLUSIONS: Our study suggests a potential role for common genetic variation in several genes that have not previously been implicated in clubfoot pathogenesis.
METHODS: The DNA of 396 isolated clubfoot patients and 1000 controls of European descent was genotyped for >600 000 single nucleotide polymorphisms (SNP) using the Affymetrix 6.0 array. Replication was performed with an independent cohort of 370 isolated clubfoot cases and 363 controls of European descent.
RESULTS: Strongest evidence for an association of clubfoot was found with an intergenic SNP on chromosome 12q24.31 between NCOR2 and ZNF664 (rs7969148, OR=0.58, p=1.25×10⁻⁵) that was significant on replication (combined OR=0.63, p=1.90×10⁻⁷). Additional suggestive SNPs were identified near FOXN3, SORCS1 and MMP7/TMEM123 that also confirmed on replication.
CONCLUSIONS: Our study suggests a potential role for common genetic variation in several genes that have not previously been implicated in clubfoot pathogenesis.
Предметные рубрики MeSH
Case-Control StudiesCell Cycle ProteinsChromosomes, Human, Pair 12ClubfootForkhead Transcription FactorsGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMatrix Metalloproteinase 7Nuclear Receptor Co-Repressor 2Polymorphism, Single NucleotideReceptors, Cell SurfaceRepressor ProteinsWhite People