The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.
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2013
- doi: 10.1101/gr.147991.112
- issn: 1088-9051
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info:eu-repo/semantics/altIdentifier/doi/10.1101/gr.147991.112
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info:eu-repo/semantics/altIdentifier/pmid/23783273
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info:eu-repo/semantics/altIdentifier/eissn/1549-5469
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info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_F56CAF52E2BB1
info:eu-repo/semantics/openAccess , CC BY-NC 4.0 , https://creativecommons.org/licenses/by-nc/4.0/
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21 trisomy Down's syndrome Trisomy 21 Mongolism Mongolism (Disease)Citer ce document
M.R. Sailani et al., « The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome. », Serveur académique Lausannois, ID : 10.1101/gr.147991.112
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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 without CHD as controls. Chromosome 21-specific association studies revealed rs2832616 and rs1943950 as CHD risk alleles (adjusted genotypic P-values