13 novembre 2013

Common genetic variants on 1p13.2 associate with risk of autism

Traduction: G.M.

Mol Psychiatry. 2013 Nov 5. doi: 10.1038/mp.2013.146.

Variants génétiques communs sur 1p13.2 associés avec le risque d'autisme


1] State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China [2] School of Biological Science and Technology, Central South University, Hunan, China.


L'autisme est un trouble neurologique hautement héritable et les variants génétiques connus, pour la plupart rares, représentent seulement une petite proportion des cas.
 Here we report a genome-wide association study on autism using two Chinese cohorts as gene discovery (n=2150) and three data sets of European ancestry populations for replication analysis of top association signals. Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P=4.49 × 10-8), non-synonymous rs6537835 (P=3.26 × 10-8) and rs1877455 (P=8.70 × 10-8), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. These genetic associations were further supported by a cis-acting regulatory effect on the gene expressions of CSDE1, NRAS and TRIM33 and by differential expression of CSDE1 and TRIM33 in the human prefrontal cortex of post-mortem brains between subjects with and those without autism.

 Notre étude suggère TRIM33 et ARN-CSDE1 comme gènes candidats pour l'autisme et peut fournir un éclairage nouveau sur l'étiologie de l'autisme.
PMID: 24189344

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