<![CDATA[Current Pharmacogenomics and Personalized Medicine (Volume 20 - Issue 2)]]> https://benthamscience.com/journal/104 RSS Feed for Journals | BenthamScience EurekaSelect (+https://benthamscience.com) 2023-10-13 <![CDATA[Current Pharmacogenomics and Personalized Medicine (Volume 20 - Issue 2)]]> https://benthamscience.com/journal/104 <![CDATA[Regulatory Role, Mechanism, and Metabolic Profile of BIOTIN in Gene Expression]]>https://benthamscience.com/article/1328642023-10-13 <![CDATA[Evaluation of BRAF Mutations in Patients with Colorectal Cancer in the East of Iran]]>https://benthamscience.com/article/1322492023-10-13Background: Several genetic alterations in cell growth regulatory genes, such as BRAF, are associated with colorectal cancer. Due to the introduction of biological agents designed to treat cancer, diagnostic tests using nucleic acids extracted from formalin-fixed and paraffin-embedded tissues are becoming more common.

Objective: This study aimed to determine the incidence of BRAF mutations in colorectal cancer patients.

Materials and Methods: 50 paraffin-embedded cancer specimens were obtained from Imam Reza Hospital of Birjand in Iran. PCR was used to amplify and sequence the BRAF gene exon 15, which was extracted from paraffin-embedded tissue using an improved technique.

Results: 2/43 (4%) of patients with colorectal cancer exhibited the BEAF V600E mutation. Most of the mutations occurred in patients over 50 years of age.

Conclusion: To understand how genetics and environment interact to influence the low incidence of BRAF mutations in the east of Iran, further research is needed to determine what is driving this low incidence of BRAF mutations and what factors contribute to it.

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<![CDATA[Prediction of Deleterious Non-Synonymous Single Nucleotide Polymorphism of Cathelicidin]]>https://benthamscience.com/article/1339902023-10-13Background: Cathelicidin, a human host defense peptide, plays a salubrious role in innate host defense against human pathogens. Despite the extensive studies on the antimicrobial function of Cathelicidin, there is a lack of information on this peptide's deleterious single nucleotide polymorphisms (SNPs) that potentially alter the disease susceptibility and hence the current study.

Objective: To predict Cathelicidin's structural and functional deleterious non-synonymous single nucleotide polymorphisms.

Methods: The non-synonymous SNPs of Cathelicidin were investigated using computational prediction tools like SIFT, Polyphen, PROVEAN, MusiteDeep, I-Mutant, and STRING.

Results: The present study predicted 23 potentially harmful nsSNP of Cathelicidin. Among these, 14 were highly conserved, 8 were average conserved, and 1 alone was variable. Phosphorylation was observed in serine and threonine residues using post-translational modification. Further mutation 3D predicted 11 clustered and 13 covered mutations in cathelicidin variants. The structural distribution of high-risk nsSNPs predicted 80 alpha helixes, 0 random coils, 19 extended strands, and 4 beta turns. Among 23 predicted deleterious SNPs, 9 nsSNPs alone showed mutation effect based on the HOPE structural and functional analysis. The direct functional interaction pattern of Cathelicidin with other proteins, FPR2, PRTN3, TLR9, IGF1R, and JUN, was observed.

Conclusion: The identified deleterious nsSNPs could help understand the mutation effect of Cathelicidin in disease susceptibility and drug discovery.

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<![CDATA[Single Nucleotide Polymorphisms of MTHFR (rs1051266) and SLC19A1 (rs1801133) Associated to Genomic Ancestry in Cuban Healthy Population]]>https://benthamscience.com/article/1337082023-10-13Background: Several single nucleotide polymorphisms on methotrexate pathway have been implicated with hyperhomocysteinemia, susceptibility to autoimmune diseases and the therapy effectiveness of methotrexate.

Objective: The present study estimates the ethnogeographic prevalence of rs1801133 (c.665C>T) in methylenetetrahydrofolate reductase and rs1051266 (c.80A>G) in solute carrier family 19 member 1, according to genomic ancestry analysis in Cuba healthy population.

Methods: Genomic data was collected from a dense genome-wide genotyping array analysis of a large sample of individuals from all provinces of Cuba, with a final sample of 946 individuals for rs1801133 and 948 individuals for rs1051266.

Results: For rs1801133, T allele and TT genotype were more prevalent in Mayabeque, the province with the highest European (p<0.0001) and the lowest African ancestry proportion (p<0.0001). Whereas, T allele and TT genotype frequency were low in Guantánamo (23.7% and 1.8%), the province with the highest African ancestry proportion (p<0.0001) and the lowest European ancestry proportion (p<0.0001). For rs1051266, the higher frequency of G allele was observed in Villa Clara, Las Tunas, Holguín and Granma and this group was associated with AG and GG genotypes (p=0.0045). This seems to be related to high Native American ancestry proportion in Las Tunas (p<0.0001), Holguín (p<0.0001) and Granma (p<0.0001); with the low African ancestry proportion in Villa Clara (p<0.0001) and with a Native American ancestry-enriched pattern observed for these provinces (p=0.0005).

Conclusion: These results provide evidence that ancestry contribution impacts in the ethnogeographic prevalence of rs1801133 (c.665C>T) and rs1051266 (c.80A>G) polymorphisms in healthy Cuban individuals.

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<![CDATA[Investigating the Association of rs4962416 and rs6465657 with Prostate Adenocarcinoma in the Iranian Population]]>https://benthamscience.com/article/1337032023-10-13Background: Prostate cancer is one of the most commonly diagnosed malignancies in the developed world. Despite other risk factors like age, diet, environment and the pathogenesis of prostate cancer, recent advances in molecular genetics suggest that genetic inheritance plays an important role in prostate cancer.

Objective: We attempted to analyze the association of SNPs rs4962416 and rs6465657 in the development of prostate cancer. A better understanding of the association of SNPs in prostate cancer susceptibility may improve risk prediction, improve precision mapping, and provide new insights into the underlying pathophysiology of prostate cancer. To date, no one has investigated these two SNPs in the Iranian populations, and according to the heterogeneity that exists, SNPs in communities should be examined separately.

Methods: This case-control study includes 82 people with prostate adenocarcinoma as cases and 96 people with benign prostatic hyperplasia (BPH) as controls. Genotyping of each participant was done by TETRA ARMS-PCR method and for statistical analysis chi-squared, Fisher’s exact logistic regression was used to find the SNPs associated with prostate cancer.

Result: The frequency of the polymorphisms rs4962416 and rs6465657 in the prostate adenocarcinoma group was evaluated compared to the BPH control group (p-value < 0.05%) to choose the meaningful SNP. For rs4962416, we didn’t find any meaningful association with prostatic cancer (p=0.402) but for rs6465657 there was a significant difference between genotype frequency (p=0.001).

Conclusion: rs6465657 polymorphism which is associated with prostate cancer, can be chosen as a biomarker for this cancer and there should be more investigation on this SNP as these results need to be confirmed in a larger population.

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<![CDATA[Sex and Gender Differences in Medical Education: The Impact on Scientific Reports]]>https://benthamscience.com/article/1335442023-10-13