Egyptian Journal of Medical Human Genetics (Sep 2022)

Polymorphisms of nicotinic acetylcholine receptors in Alzheimer’s disease: a systematic review and data analysis

  • Solmaz Mohammadi,
  • Javad Mahmoudi,
  • Fereshteh Farajdokht,
  • Milad Asadi,
  • Parya Pirsarabi,
  • Seyedeh Farrokh Kazeminiaei,
  • Sepideh Parvizpour,
  • Saeed Sadigh-Eteghad

DOI
https://doi.org/10.1186/s43042-022-00357-y
Journal volume & issue
Vol. 23, no. 1
pp. 1 – 7

Abstract

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Abstract Objective This study was conducted to accomplish a better insight into the impact of single nucleotide polymorphisms (SNPs) of nicotinic acetylcholine receptors (nAChR) at the risk of Alzheimer’s disease (AD) and their possible pathogenicity. Methods We carried out a systemic review of accessible studies. The case–control studies were assessed by an electronic search of international and local databases to identify relevant studies on SNPs relating to nAChR genes in AD. Two reviewers evaluated the inclusion/exclusion criteria, summarized, and analyzed the extracted data. We used odds ratios (ORs) with 95% confidence intervals (CIs) for reporting our data. Online databases were checked for possible pathogenicity of statistically significant SNPs. Also, online databases, including NCBI, NIH, ClinVar, RegulomeDB, and Ensemble, were used to analyze and identify structure and function, DNA features, and flank sequencing in SNPs. Results Among all collected SNPs, rs4779978 and rs1827294 on CHRNA7, rs1044394 on CHRNA4, and rs1127314 on CHRNB2 showed statistically significant between AD cases and controls. Conclusions Some SNPs from the reviewed reports show evidence supporting their possible involvement in AD pathology. However, more comprehensive studies are necessary to identify the exact correlation and their role on the pathogenicity of disease.

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