rs11122330
This is a intron variant variant in the DISC1 gene.
▶Research that mentions this SNP (1)
▶DISC1 in adult ADHD patients: An association study in two European samplesAssociationN=2,703Kaya K. Jacobsen et al.(2013)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This is the first systematic study examining the role of DISC1 gene variants in adult ADHD. The intronic SNP rs1538979 was associated with ADHD in a Norwegian sample (OR 1.33, p=0.03) and replicated in a Spanish sample using the tagging SNP rs11122330 (meta-analysis p=0.008, OR 1.25). Additionally, the non-synonymous variant rs6675281 (Phe607Leu) was associated with positive bipolar spectrum symptoms as measured by the Mood Disorder Questionnaire (OR 1.44, p=0.01) in the Norwegian sample, though this was not replicated.
About DISC1
This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
View all DISC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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