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Gene. 2018 Jul 20;664:119-126. doi: 10.1016/j.gene.2018.04.061. Epub 2018 Apr 22.

Association of CACNA1C with bipolar disorder among the Pakistani population.

Author information

1
Department of Biochemistry, PMAS Arid Agriculture University Rawalpindi, Pakistan; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
2
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
3
Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT 06510, USA.
4
Department of Neuroscience, Yale University School of Medicine, New Haven, CT 06510, USA.
5
Department of Biochemistry, PMAS Arid Agriculture University Rawalpindi, Pakistan.
6
Pakistan Institute of Medical Sciences, Islamabad, Pakistan.
7
Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT 06510, USA. Electronic address: andrew.dewan@yale.edu.
8
Department of Biochemistry, PMAS Arid Agriculture University Rawalpindi, Pakistan. Electronic address: Ghazala@uaar.edu.pk.
9
Department 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.

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.

KEYWORDS:

ANK3; Bipolar disorder; CACNA1C; Pakistan

PMID:
29684488
PMCID:
PMC5970093
[Available on 2019-07-20]
DOI:
10.1016/j.gene.2018.04.061
[Indexed for MEDLINE]

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