Gene Report

Basic Info
Approved Symbol PDLIM5
Symbol Alias LIM, Enh
Approved Name PDZ and LIM domain 5
Location 4q22
Position chr4:94451857-94668227, 1
External Links HGNC: 17468
Entrez Gene: 10611
Ensembl: ENSG00000163110
UCSC: uc003htk.4
No. of Studies 5 (Positive: 4; Negative: 1; trend: 0)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 5)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Zain, M. A., 2013 SNP: rs7690296, rs11097431 Therefore, it can be deduced that the nonsynonymous rs7690296 polymorphism could play an important role in the pathophysiology of both bipolar disorder and schizophrenia. Positive Comment on Study
Squassina, A.,2008 SNP: rs10008257, rs2433320, rs2433322
Haplotype: rs10008257 - rs2433320(), rs10008257 - rs2433320(A-A), rs10008257 - rs2433320(A-G), rs10008257 - rs2433320(G-A), rs10008257 - rs2433320(G-G ), rs10008257 - rs2433320 - rs2433322(), rs10008257 - rs2433320 - rs2433322(A-A-G), rs10008257 - rs2433320 - rs2433322(A-G-A), rs10008257 - rs2433320 - rs2433322(G-A-G), rs10008257 - rs2433320 - rs2433322(G-G-A), rs2433320 - rs2433322(), rs2433320 - rs2433322(A-G), rs2433320 - rs2433322(G-A)
In single-marker analysis, no association was found for any of the SNPs tested. After correction for multiple testing, haplotype analysis showed slight statistically significant association for a rare haplotype of SNPs 1 and 2, P-value = 0.009; corrected P-value = 0.040 . Although the findings presented in this paper do not provide strong evidence that the PDLIM5 gene significantly affects the pathophysiology of BD, they suggest that rare variants within the promoter region of the gene may have a marginal effect on the disorder. Positive Comment on Study
Yosifova, A.,2009 SNP: rs10008257, rs2438146 No SNP of this gene had significant association with BD in our population. Negative Comment on Study
Shi, J., 2008 (c) SNP: rs10008257, rs1543013, rs2433320, rs2452594, rs774992
Haplotype: rs10008257 - rs2433320(GA), rs10008257 - rs2433320(GG), rs10008257 - rs2433320(AG), rs10008257 - rs2433320(AA), rs2452594 - rs1543013(GA), rs2452594 - rs1543013(AC), rs2452594 - rs1543013(GC)
The meta-analysis identified a significant allelic association at rs2433320 in all combined samples (excluding overlapped samples in GWA: overall OR = 0.897, 95% CI: 0.838-0.961, adjusted p = 0.012) and in all Caucasian samples (excluding overlapped samples in GWA: overall OR = 0.905, 95% CI: 0.843-0.971, adjusted p = 0.032), but not in the Japanese samples.. PDLIM5 may play a minor effect on susceptibility to bipolar disorder in Caucasians. Positive Comment on Study
Zhao, T.,2009 SNP: rs10008257, rs2433320, rs2433322, rs2438146
Haplotype: rs10008257 - rs2433320(), rs10008257 - rs2433320 - rs2433322(A-A-G), rs10008257 - rs2433320 - rs2433322(G-G-A), rs10008257 - rs2433320 - rs2433322(G-G-G), rs10008257 - rs2433320 - rs2433322 - rs2438146(A-A-G-T), rs2433320 - rs2433322(A-A), rs2433320 - rs2433322(G-A), rs2433320 - rs2433322(G-G), rs2433320 - rs2433322 - rs2438146(G-A-C), rs2433320 - rs2433322 - rs2438146(G-G-C), rs2433322 - rs2438146(A-C), rs2433322 - rs2438146(G-C)
In conclusion, our case-control study provided consistent evidence that PDLIM5 might play a potential role in the susceptibility to bipolar disorder in the Chinese Han population. Positive Comment on Study
Gene functional annotation
Gene related GO terms (count: 16)

GO terms by PBA (count: 3)

GO terms by database search (count: 13)

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 8)

Related other genetic factors
Gene related SNPs (count: 46)

Literature-origin SNPs (count: 9)

LD-proxies (count: 37)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 1)

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: 4)

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

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

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Region: chr4:94451857..94668227 View in gBrowse
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