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The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

ABSTRACT: Here we aimed to contribute to the description of the genetic architecture of Congenital heart defect (CHD) in Down syndrome (DS), and report the results of a genome-wide association study using samples from DS individuals with and without CHD. CHD is a common developmental defect of DS occurring in 40% of cases. This case-control GWAS includes 187 DS with CHD as cases, and 151 DS without CHD as controls.

PROVIDER: EGAS00000000129 | EGA |

REPOSITORIES: EGA

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The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

Sailani M Reza MR Makrythanasis Periklis P Valsesia Armand A Santoni Federico A FA Deutsch Samuel S Popadin Konstantin K Borel Christelle C Migliavacca Eugenia E Sharp Andrew J AJ Duriaux Sail Genevieve G Falconnet Emilie E Rabionet Kelly K Serra-Juhé Clara C Vicari Stefano S Laux Daniela D Grattau Yann Y Dembour Guy G Megarbane Andre A Touraine Renaud R Stora Samantha S Kitsiou Sofia S Fryssira Helena H Chatzisevastou-Loukidou Chariklia C Kanavakis Emmanouel E Merla Giuseppe G Bonnet Damien D Pérez-Jurado Luis A LA Estivill Xavier X Delabar Jean M JM Antonarakis Stylianos E SE

Genome research 20130619 9

Congenital heart defect (CHD) occurs in 40% of Down syndrome (DS) cases. While carrying three copies of chromosome 21 increases the risk for CHD, trisomy 21 itself is not sufficient to cause CHD. Thus, additional genetic variation and/or environmental factors could contribute to the CHD risk. Here we report genomic variations that in concert with trisomy 21, determine the risk for CHD in DS. This case-control GWAS includes 187 DS with CHD (AVSD = 69, ASD = 53, VSD = 65) as cases, and 151 DS with ...[more]

PMID: 23783273

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