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Year : 2023  |  Volume : 10  |  Issue : 1  |  Page : 22-28

In silico evaluation of single-nucleotide polymorphisms in CHRNA7 and GRIN1 genes related to Alzheimer's disease

1 Molecular Biology Master's Degree, Institute of Science, Üsküdar University, Istanbul, Türkiye
2 Medical Laboratory Techniques, Istanbul, Türkiye
3 Laboratory Technology, Istanbul, Türkiye
4 Biomedical Device Technology, Vocational School of Health Services, Üsküdar University, Istanbul, Türkiye

Correspondence Address:
Ömer Faruk Karasakal
Mimar Sinan Mah. Selman-I Pak Cad, Üsküdar Üniversitesi Çarşı, Yerleşkesi, PK: 34664, Istanbul
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jnbs.jnbs_31_22

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Aim: The purpose of this study is to predict the possible impact of missense single-nucleotide polymorphisms (SNPs) in CHRNA7 and GRIN1 genes associated with AD on protein structure, function, and stabilization and to analyze gene–gene interactions via in silico methods. Materials and Methods: SIFT, PolyPhen-2, SNPsandGO, PROVEAN, SNAP2, PhD-SNP, and Meta-SNP were used to estimate high-risk SNPs. The impact of SNPs on protein stabilization was evaluated with I-Mutant 3.0 and MUpro software. Three-dimensional models of amino acid changes were determined with the Project HOPE software. Furthermore, the gene–gene interactions were analyzed via GeneMANIA. Results: According to the results of 603 missense SNPs in the CHRNA7 gene, rs142728508 (Y233C), rs12899798 (W77G), rs138222088 (R227H), rs140316734 (R227C), rs199633275 (P322R), rs199819119 (L29F), rs200147286 (Q49P), rs200908085 (Y115C), rs201094833 (Q61R), rs201473594 (N69D), rs201210785 (E195K), and rs368352998 (S48W) polymorphisms were predicted as deleterious. Similarly, rs193920837 (P117 L), rs3181457 (I540M), and rs201764643 (R217P) polymorphisms in the GRIN1 were estimated as deleterious. Conclusion: It is thought that the results of this study will provide useful information to guide future diagnostic and experimental strategies for AD.

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