Evidence map›Paper›PMID 29684488›Full record

ArticleGene2018

Association of CACNA1C with bipolar disorder among the Pakistani population.

Madiha Khalid, Terri M Driessen, Jong Seo Lee, Leon Tejwani, Asad Rasool, Muhammad Saqlain, Pakeeza Arzoo Shiaq, Muhammad Hanif, Amber Nawaz, Andrew T DeWan and 2 more

Abstract read
In one paragraph

Article in Gene, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 2 pooled it
1.5field-weighted citation impact, top 18% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

10 citing papers in PubMed, 2 syntheses or guidelines pooled it, 24 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 3 institutions in 2 countries.

Madiha KhalidDepartment of Biochemistry, PMAS Arid Agriculture University Rawalpindi, Pakistan; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
Terri M DriessenDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
Jong Seo LeeDepartment of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT 06510, USA.
Leon TejwaniDepartment of Neuroscience, Yale University School of Medicine, New Haven, CT 06510, USA.
Asad RasoolDepartment of Biochemistry, PMAS Arid Agriculture University Rawalpindi, Pakistan.
Muhammad SaqlainDepartment of Biochemistry, PMAS Arid Agriculture University Rawalpindi, Pakistan.
Pakeeza Arzoo ShiaqDepartment of Biochemistry, PMAS Arid Agriculture University Rawalpindi, Pakistan.
Muhammad HanifDepartment of Biochemistry, PMAS Arid Agriculture University Rawalpindi, Pakistan.
Amber NawazPakistan Institute of Medical Sciences, Islamabad, Pakistan.
Andrew T DeWanDepartment of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT 06510, USA. Electronic address: andrew.dewan@yale.edu.
Ghazala Kaukab RajaDepartment of Biochemistry, PMAS Arid Agriculture University Rawalpindi, Pakistan. Electronic address: Ghazala@uaar.edu.pk.
Janghoo LimDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA; Department of Neuroscience, Yale University School of Medicine, New Haven, CT 06510, USA; Program in Cellular Neuroscience, Neurodegeneration and Repair, Yale University School of Medicine, New Haven, CT 06510, USA. Electronic address: janghoo.lim@yale.edu.
Pir Mehr Ali Shah Arid Agriculture University · PKYale University · USPakistan Institute of Medical Sciences · PK

Funding

NEUROBIOLOGY OF CORTICAL SYSTEMST32NS007224 · NINDS · YALE UNIVERSITY · PI CARDIN, JESSICA A · 1985 to 2025
$4.6M
Cellular and Molecular Studies of SBMA Neuromuscular DiseaseR01NS088321 · NINDS · YALE UNIVERSITY · PI LIM, JANGHOO · 2015 to 2019
$2.2M
Investigating the Pathogenesis of Cerebellar NeurodegenerationR01NS083706 · NINDS · YALE UNIVERSITY · PI LIM, JANGHOO · 2014 to 2018
$1.8M
NINDS NIH HHS R01 NS083706NINDS NIH HHS R01 NS088321NINDS NIH HHS T32 NS007224
6 · The paper itself

Abstract

Many single nucleotide polymorphisms (SNPs) have been identified for Bipolar disorder (BD), but association between SNPs and BD can vary depending on the population tested. SNPs rs10994336 and rs9804190 in ANK3 and rs1006737 in CACNA1C have emerged as the most highly replicated SNPs significantly associated with BD. The aim of the present study was to assess the association of these SNPs with BD in the Pakistani population, which has never before been examined. A total of 120 BD and 120 control individuals from Pakistan were examined in this analysis. Genotyping results indicated that rs1006737 in CACNA1C was significantly associated with BD, while rs10994336 or rs9804190 in ANK3 was not significant when examined individually. However, risk score assessment found that the presence of two or more risk alleles was significantly associated with disease, indicating that risk alleles from ANK3 and CACNA1C may additively contribute to BD. A protein-protein interaction network was generated using STRING to probe the relationship between ANK3 and CACNA1C interactors and their associations with BD. While none of the interactors are directly linked to BD, they play a role in pathways linked to BD, including oxytocin and dopamine signaling pathways. Collectively, these results reveal a significant association of CACNA1C with BD among the Pakistani population, extending results from other ethnic groups to the Pakistani population for the first time.

Indexed as

Genetic Predisposition to DiseaseAdultAllelesAnkyrinsBipolar DisorderCalcium Channels, L-TypeCase-Control StudiesDopamineEthnicityFemaleGenotyping TechniquesHumansMaleOxytocinPakistanPolymorphism, Single NucleotideANK3 protein, humanAnkyrinsCACNA1C protein, humanCalcium Channels, L-TypeDopamineOxytocinANK3Bipolar disorderCACNA1CPakistan

Identifiers

PMID29684488
PMCPMC5970093
OpenAlexW2802481511

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.