Gene Report

Approved Symbol	DISC1
Approved Name	disrupted in schizophrenia 1
Location	1q42.1
Position	chr1:231626815-232041272, 1
External Links	HGNC: 2888 Entrez Gene: 27185 Ensembl: ENSG00000162946 UCSC: uc010pxh.2
No. of Studies	18 (Positive: 10; Negative: 7; trend: 1)
Overlap with SZ?	YES
Overlap with MDD?	YES

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Palo, O. M., 2007	SNP: rs1000731, rs1322784, rs1411771, rs1538977, rs3738401, rs6675281, rs751229, rs821616, rs967244, rs980989 Haplotype: rs1000731 - rs821616(C-T), rs1000731 - rs821616 - rs1411771(C-T-T), rs1322784 - rs967244(A-G), rs1411771 - rs980989(T-G), rs1538977 - rs1322784(A-A), rs3738401 - rs1538977(A-A), rs6675281 - rs1000731(T-C), rs6675281 - rs1000731 - rs821616(T-C-T), rs751229 - rs3738401(T-A), rs821616 - rs1411771(T-T), rs821616 - rs1411771 - rs980989(T-T-G), rs967244 - rs6675281(G-T), rs1615409 - rs1655285 - rs751229(C-G-T), rs1655285 - rs751229(G-T), rs1655285 - rs751229 - rs3738401(G-T-A)	The results provide evidence for an association of distinct allelic variants of DISC1 to psychotic and bipolar spectrum disorders.	Positive	Comment on Study
Maeda, K., 2006	SNP: rs1000731, rs1407598, rs1538975, rs1954175, rs2273890, rs3524, rs3737597, rs3738401, rs6675281, rs821616, rs821653 Haplotype: rs1538975 - rs3738401 - DISC1_Exon2_Pro/Leu - rs1954175 - rs2273890 - rs1407598 - rs6675281 - rs1000731 - rs821653 - rs821616 - rs3524 - rs3737597(G-G-C-A-T-A-C-G-T-A-C-G), rs1538975 - rs3738401 - DISC1_Exon2_Pro/Leu - rs1954175 - rs2273890 - rs1407598 - rs6675281 - rs1000731 - rs821653 - rs821616 - rs3524 - rs3737597(G-G-C-A-T-C-C-A-T-A-C-G) Other variant: DISC1_exon2_Pro/Leu	These results suggest that decreased mRNA levels of DISC1 expression, associating with the risk haplotype, may be implicated in the pathophysiology of bipolar disorder.	Positive	Comment on Study
Ram Murthy, A., 2012	SNP: rs2812393, rs3738401, rs821616 Haplotype: rs766288 - rs3738401 - rs2812393 - rs821616(C-G-G-T), rs766288 - rs3738401 - rs2812393 - rs821616(A-G-G-T), rs766288 - rs821616(C-A), rs766288 - rs821616(A-A), rs766288 - rs821616(C-T), rs766288 - rs821616(A-T), rs766288 - rs2812393(C-C), rs766288 - rs2812393(A-G), rs766288 - rs2812393(C-G ), rs766288 - rs2812393(A-C ), rs2812393 - rs821616(C-A), rs2812393 - rs821616(G-A), rs2812393 - rs821616(G-T), rs2812393 - rs821616(C-T)	Our results provide further evidence for sex-dependent effects of the TSNAX/DISC1 locus in the aetiology of SCZ and BPAD.	Positive	Comment on Study
Perlis, 2008	SNP: rs1015101, rs10864702, rs11577215, rs1934909, rs2759346	permuted P< .005 in gene-based association tests. Among 3 genes associated with schizophrenia or bipolar disorder in multiple previous studies, only DISC1 showed evidence of association in this cohort. hese results suggest novel candidates and 1 gene (DISC1) previously associated with schizophrenia that merit further study in bipolar disorder.	Positive	Comment on Study
Prata, D. P.,2011	SNP: rs821616	No significant associations were detected in BP patients.	Negative	Comment on Study
Xiao, Y.,2011	SNP: rs1417866, rs1538977, rs1572899, rs16841582, rs1954175, rs2038636, rs2738864, rs3524, rs734551, rs821597, rs821653 Haplotype: rs1572899 - rs1954175(A-C), rs2738864 - rs16841582(C-C), rs821597 - rs821653(A-A)	This finding provides evidence supporting the role of DISC1 gene in bipolar disorder, and shows the presence of population heterogeneity.	Positive	Comment on Study
Green, E. K.,2011	SNP: rs821616	The known non-synonymous polymorphism rs821616 (Ser704Cys) was not significantly associated with disease.	Negative	Comment on Study
Song, W.,2010	Other variant: DISC1_1013 G>A, DISC1_1253 G>A, DISC1_2261 C>G, DISC1_627 C>G, DISC1_IVS1+3 A>T, DISC1_1700 G>A, DISC1_2425 TCATdel, DISC1_74 G>A, DISC1_790 C>T, DISC1_887 A>G	In our sample, ultra-rare(private) protein structural variants in DISC1 are associated with an estimated attributable risk of about 0.5% in bipolar spectrum disorder.	Trend	Comment on Study
Devon, R. S.,2001	Other variant: DISC1_A844G, DISC1_C1460T, DISC1_G65049, DISC1_T11840C, DISC1_T2163A	Neither co-segregation with disease status nor significant association was detected.	Negative	Comment on Study
Hodgkinson, C. A.,2004	SNP: rs1407598, rs1535529, rs3524	These data support the idea that these apparently distinct disorders have at least a partially convergent etiology and that variation at the DISC1 locus predisposes individuals to a variety of psychiatric disorders.	Positive	Comment on Study
McDonald, M. L.,2012	SNP: rs10495310, rs2812391, rs4658954	None of the association tests of the tagSNPs with either BPD I or BPD II reached genome-wide significance (P < 5E-08).	Negative	Comment on Study
Arai, M., 2007	SNP: rs3738398 Haplotype: rs3738398 - DISC1_-215(TG)8-13([G-(TG)<sub>8</sub>], [G-(TG)<sub>9</sub>], [C-(TG)<sub>12</sub>]) Other variant: DISC1_-215(TG)8-13	The polymorphisms in 5' upstream region of the DISC1 gene are unlikely to play a major role in the susceptibility to mood disorders in the Japanese population.	Negative	Comment on Study
Yosifova, A.,2009	SNP: rs1322784, rs1538977, rs2492367, rs2812393	No SNP of this gene had significant association with BD in our population.	Negative	Comment on Study
Schosser, A., 2010	SNP: rs1000731, rs12133766, rs2492367, rs3738401, rs6675281, rs7546310, rs821597 Haplotype: rs1000731 - rs7546310(AC), rs1000731 - rs7546310 - rs821597(ACC), rs12133766 - rs1000731(GA), rs12133766 - rs1000731 - rs7546310(GAC), rs2492367 - rs6675281(TC), rs2492367 - rs6675281 - rs12133766(TCG), rs6675281 - rs12133766 - rs1000731(CGA), rs7546310 - rs821597(AT), rs766288 - rs2492367 - rs6675281(ACC), rs766288 - rs2492367(AC)	We found a significant allelic and genotypic association of the TSNAX-DISC1 gene region with BD.	Positive	Comment on Study
Thomson, P. A.,2005(a)	SNP: rs1000730, rs1000731, rs1025526, rs1030711, rs1094653, rs11122396, rs1160491, rs12404162, rs1322784, rs1411771, rs1411776, rs1538977, rs1615409, rs1630250, rs1954175, rs1984895, rs2038636, rs2492367, rs2759346, rs2812393, rs3738401, rs6675281, rs701158, rs734551, rs751229, rs766288, rs821597, rs821616, rs821663, rs999710 Haplotype: rs1538977 - rs2492367 - rs2812393(T-T-G), rs1538977 - rs2492367 - rs2812393 - rs1322784(T-T-G-T), rs1954175 - rs1538977 - rs2492367(), rs1954175 - rs1538977 - rs2492367 - rs2812393(A-C-C-G), rs1954175 - rs1538977 - rs2492367 - rs2812393(G-T-T-G), rs2492367 - rs2812393 - rs1322784(C-C-C), rs2492367 - rs2812393 - rs1322784(C-G-T), rs2492367 - rs2812393 - rs1322784 - rs2759346(), rs2812393 - rs1322784(C-C), rs2812393 - rs1322784 - rs2759346 - rs6675281()	This result provides further supporting evidence for DISC1 as a susceptibility factor for both bipolar disorder and schizophrenia, consistent with the diagnoses in the original Scottish translocation family.	Positive	Comment on Study
Fallin, M. D.,2005		19 SNP typed, Median D'=0.16, Median r<sup>2</sup> =0, 10 LD blocks, 0.46 block coverage, all SNP or haplotype P-value > 0.05 in BP and SZ/SZA... This gene is not suggestive to BP.	Negative	Comment on Study
Chakirova, G.,2011	SNP: rs1538979, rs821633	In the bipolar group there was decreased activation in the risk carriers of SNP rs821633 in the inferior parietal lobule and left cingulate cortex. These findings may provide a better understanding of the neural effects of DISC1 variants and on the pathophysiology of bipolar disorder.	Positive	Comment on Study
Hennah, W.,2009	SNP: rs1538979, rs821577	These findings provide further support for the role of DISC1 in psychiatric illness and demonstrate the presence of locus heterogeneity, with the effect that clinically relevant genetic variants may go undetected by standard analysis of combined cohorts.	Positive	Comment on Study

Region: chr1:231626815..232041272 View in gBrowse