Gene Report

Approved Symbol	NDUFV2
Symbol Alias	CI-24k
Approved Name	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
Previous Name	NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)
Name Alias	complex I 24kDa subunit, "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"
Location	18p11.22
Position	chr18:9102630-9134345, 1
External Links	HGNC: 7717 Entrez Gene: 4729 Ensembl: ENSG00000178127 UCSC: uc002knu.3
No. of Studies	6 (Positive: 5; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Zhang, J.,2009	SNP: rs1156044, rs4148965, rs6506640, rs906807, rs977581 Haplotype: rs6506640 - rs906807(A-C), rs6506640 - rs906807(A-T), rs6506640 - rs906807(G-T)	In summary, we found that the haplotype rs6506640-rs906807 of NDUFV2 was associated with bipolar disorder in the Chinese Han population and that rs906807 may possibly be associated with bipolar disorder in females.	Positive	Comment on Study
Doyle, G. A.,2011	SNP: rs1156044, rs2377961, rs906807 Haplotype: rs1156044 - rs906807(A-C), rs1156044 - rs906807(A-T), rs1156044 - rs906807(G-T)	We cautiously conclude that NDUFV2 may be associated with BPDI in this Caucasian population.	Positive	Comment on Study
Yosifova, A.,2009	SNP: rs906807	No SNP of this gene had significant association with BD in our population.	Negative	Comment on Study
Xu, C., 2008	SNP: rs1156044, rs11661859, rs11872481, rs12454936, rs2279992, rs977581	Statistically significant increased frequency of allele A of the SNP rs1156044 was observed in the BD group as a whole [84.7%; odds ratio (OR) = 2.44, p = 0.013) and in the BD I subgroup (85.3%; OR = 2.55, p = 0.014), compared to healthy controls (69.4%).. While genetic variants of NDUFV2 may increase risk for BD, the role of its altered expression and the link to intracellular Ca<sup>2+</sup> abnormalities in BD remains equivocal.	Positive	Comment on Study
Washizuka, S.,2003	Haplotype: (NDUFV2_86C>T) - (NDUFV2_-796C>G) - (NDUFV2_-602G>A) - (NDUFV2_-233T>C)() Other variant: NDUFV2_-233T>C, NDUFV2_-796C>G, NDUFV2_86C>T, NDUFV2_-602G>A	Our findings suggest that polymorphisms of the NDUFV2 gene may be one of the genetic risk factors for bipolar disorder.	Positive	Comment on Study
Washizuka, S., 2004	Haplotype: NDUFV2_-1020G>T - NDUFV2_-796C>G(), NDUFV2_-1020G>T - NDUFV2_-796C>G - NDUFV2_-602G>A(), NDUFV2_-233T>C - NDUFV2_86C>T(), NDUFV2_-2694A>G - NDUFV2_-1020G>T(), NDUFV2_-2694A>G - NDUFV2_-1020G>T - NDUFV2_-796C>G(), NDUFV2_-3041T>G - NDUFV2_-2694A>G(), NDUFV2_-3041T>G - NDUFV2_-2694A>G - NDUFV2_-1020G>T(), NDUFV2_-3245T>C - NDUFV2_-3041T>G(), NDUFV2_-3245T>C - NDUFV2_-3041T>G - NDUFV2_-2694A>G(), NDUFV2_-3542G>A - NDUFV2_-3245T>C(), NDUFV2_-3542G>A - NDUFV2_-3245T>C - NDUFV2_-3041T>G(), NDUFV2_-3542G>A - NDUFV2_-602G>A(A-A ), NDUFV2_-3542G>A - NDUFV2_-602G>A(G-A ), NDUFV2_-3542G>A - NDUFV2_-602G>A(A-G ), NDUFV2_-3542G>A - NDUFV2_-602G>A(G-G ), NDUFV2_-602G>A - NDUFV2_-233T>C(), NDUFV2_-602G>A - NDUFV2_-233T>CNDUFV2_86C>T(), NDUFV2_-796C>G - NDUFV2_-602G>A(), NDUFV2_-796C>G - NDUFV2_-602G>A - NDUFV2_-233T>C() Other variant: NDUFV2_-3041T>G, NDUFV2_-2694A>G, NDUFV2_-3245T>C, NDUFV2_-3542G>A, NDUFV2_-1020G>T, NDUFV2_-233T>C, NDUFV2_-602G>A, NDUFV2_-796C>G, NDUFV2_86C>T	Together these findings indicate that the polymorphisms in the promoter region of NDUFV2 are a genetic risk factor for bipolar disorder by affecting promoter activity.	Positive	Comment on Study

Region: chr18:9102630..9134345 View in gBrowse