rs6500744
This is a intron variant variant in the RBFOX1 gene.
▶Research that mentions this SNP (1)
▶Does parental expressed emotion moderate genetic effects in ADHD? an exploration using a genome wide association scanAssociationN=909Edmund J.S. Sonuga‐Barke et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This genome-wide association study examined whether parental expressed emotion moderates genetic effects on ADHD symptoms and conduct disorder in 909 family trios (600,000 SNPs genotyped). No gene-by-environment interactions reached genome-wide significance. Nominal effects were observed with 36 uncorrected interaction P-values <10⁻⁵, implicating both novel genes and candidate genes. SNPs in SLC1A1 and NRG3 emerged as candidate genes for follow-up, though the authors emphasize these findings are preliminary and require replication.
About RBFOX1
The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
View all RBFOX1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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