rs1538979

This is a intron variant variant in the DISC1 gene.

Research that mentions this SNP (2)

DISC1 in adult ADHD patients: An association study in two European samples
AssociationN=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.

Traits studied:Attention-deficit/hyperactivity disorder (ADHD)Bipolar spectrum disorder symptoms
Association of Variants in DISC1 With Psychosis-Related Traits in a Large Population Cohort
AssociationN=4,527Liisa Tomppo et al.(2009)· Archives of General Psychiatry

Association study of 41 SNPs in DISC1 with psychosis-related traits (social anhedonia, physical anhedonia, perceptual aberration, schizoidia) in 4,651 participants from a Finnish birth cohort. Carriers of the minor allele of rs821577 had significantly higher social anhedonia scores (P<.001, d=0.09), and rs821633 showed significant interaction effects with rs821577 and rs1538979 on anhedonia phenotypes (P<.001, d=0.07-0.14).

Traits studied:Bipolar disorderPerceptual aberrationPhysical anhedoniaPsychosis pronenessSchizoidiaSchizophreniaSocial anhedonia

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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