Gene Report

Basic Info
Approved Symbol DGKH
Symbol Alias DGKeta
Approved Name diacylglycerol kinase, eta
Location 13q13.3
Position chr13:42040036-42256578, 1
External Links HGNC: 2854
Entrez Gene: 160851
Ensembl: ENSG00000102780
UCSC: uc001uyl.2
No. of Studies 6 (Positive: 3; Negative: 3; trend: 0)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 6)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Squassina, A.,2009 SNP: rs1012053, rs1170191, rs9315885
Haplotype: rs9315885 - rs1012053 - rs1170191(C-A-C), rs9315885 - rs1012053 - rs1170191(C-C-A), rs9315885 - rs1012053 - rs1170191(T-A-A), rs9315885 - rs1012053 - rs1170191(T-A-C)
Our study does not replicate the single-marker association reported by Baum et al.However, the significant association for haplotype H2 may reflect the presence of other markers in LD with the block.The association for a DGKH haplotype reported in our sample, although intriguing, must be interpreted with caution and further studies need to be performed to clarify the role of DGKH in BD. Positive Comment on Study
Ollila, H. M.,2009 SNP: rs1170191, rs9315885 It showed no evidence for association with BPI in our study. Negative Comment on Study
Yosifova, A.,2009 SNP: rs1012053, rs1170191, rs9315897, rs9525570 No SNP of this gene had significant association with BD in our population. Negative Comment on Study
Tesli, M.,2009 SNP: rs1033951, rs11616202, rs11617266, rs1170098, rs1170101, rs1170183, rs1170192, rs12584909, rs12876965, rs17062754, rs17519598, rs17598799, rs180870, rs2148656, rs2324890, rs2767388, rs2767390, rs347382, rs347383, rs347405, rs347416, rs4598803, rs545602, rs6561029, rs6561030, rs681657, rs686810, rs716934, rs7981733, rs7984523, rs9533002, rs9533007, rs9533040, rs9562377, rs9562385, rs9594670 We found no significant association after multiple-testing correction between any of these SNPs and BD in our sample. Thus, it is unlikely that these genetic variations confer susceptibility to BD in this large Scandinavian sample. Negative Comment on Study
Zeng, Z.,2011 SNP: rs1012053, rs1170098, rs1170099, rs1170191, rs2122246, rs347387, rs716934, rs9315885, rs9315897, rs9532988, rs9533042, rs9566931, rs9566940
Haplotype: rs1170099 - rs9566940(A-C), rs1170099 - rs9566940(A-T), rs1170099 - rs9566940(G-T), rs716934 - rs9566931 - rs9315897 - rs2122246(A-A-C-G), rs716934 - rs9566931 - rs9315897 - rs2122246(A-A-T-G), rs716934 - rs9566931 - rs9315897 - rs2122246(T-A-T-A), rs716934 - rs9566931 - rs9315897 - rs2122246(T-A-T-G), rs716934 - rs9566931 - rs9315897 - rs2122246(T-G-T-G), rs9315885 - rs9532988 - rs1012053(C-A-A), rs9315885 - rs9532988 - rs1012053(C-A-C), rs9315885 - rs9532988 - rs1012053(T-A-A), rs9315885 - rs9532988 - rs1012053(T-G-A)
In summary, our results support DGKH as shared risk factor of BPD and SCZ in the Chinese Han population. Positive Comment on Study
Takata, A.,2011(a) SNP: rs1012053, rs1170191, rs1170195, rs17646069, rs35776153, rs9315885, rs9315897, rs9525570 Although the association was not strong, the result of this study would support the association between DGKH and BD. Positive Comment on Study
Gene functional annotation
Gene related GO terms (count: 15)

GO terms by PBA (count: 2)

GO terms by database search (count: 13)

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 1)

KEGG pathways by database search (count: 2)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Related other genetic factors
Gene related SNPs (count: 273)

Literature-origin SNPs (count: 51)

LD-proxies (count: 222)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 5)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Overlap with SZ from candidate gene intersection analysis (count: 1)

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Overlap with MDD from candidate gene intersection analysis (count: 1)

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Region: chr13:42040036..42256578 View in gBrowse
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