Purpose Colorectal carcinoma (CRC) represents a considerable public health burden in Saudi Arabia. Several candidate genes and genetic variants have been associated with morbidity and mortality among patients with CRC. We explored whether allelic variants of the GSTM1, GSTT1, CYP450 (rs4646903 and rs1048943), and TP53 (rs1042522) genes predisposed nonsmoking Saudi individuals to increased risk for CRC. Patients and Methods DNA from buccal cells of 158 participants (80 with CRC and 78 healthy controls) were analyzed for five SNPs using conventional PCR and TaqMan genotyping assays. The SNPStats software was utilized to choose the best interactive inheritance mode for selected SNPs ( https://www.snpstats.net ). Results The mean age of diagnosis was 62.4±13.5 years (range, 40–83 years), with those aged 71–80 years and those aged 40–50 years accounting for the most diagnoses (35.7% and 28.6% of diagnosis, respectively). The GSTM1 and TP53 rs1042522 SNPs were associated with CRC (OR= 3.7; P < 0.0001, and OR= 1.6; P = 0.033, respectively). A plausible contribution to CRC was observed for the GSTM1 and TP53 rs1042522 SNPs ( x 2 Yates = 14.7; P = 0.00013, and x 2 Yates = 11.2; P = 0.0008, respectively), while the GSTT1 null variant did not affect risk. Heterozygosity in the CYP450 (rs4646903 and rs1048943 SNPs) was associated with a significant risk for CRC. The GSTM1 / GSTT1 and CYP450 rs4646903/rs1048943 SNP pairs were in linkage disequilibrium, and the associations were statistically significant ( P = 0.01 and P = 4.6x10 ‒7 , respectively). Conclusion The GSTM1 and TP53 rs1042522 variants can increase the development of CRC in Saudi nonsmokers. Even the presence of one copy of a variant allele in the CYP1A1 gene can predispose CRC risk. Additional studies should also examine other SNP combinations with lifestyle factors that may help prevent, rather than facilitate, colorectal tumorigenesis.

Background The antigen processing 1 ( TAP1 ) and proteasome 20S subunit beta 9 ( PSMB9 ) genes are associated with strong susceptibility to many autoimmune diseases. Here, we explored whether TAP1/PSMB9 genetic variants, individually or combined, affected susceptibility to the complex, autoimmune-based skin disorder vitiligo. Methods Samples of genomic DNA from buccal cells of 172 patients with vitiligo and 129 healthy controls were analyzed using TaqMan™ genotyping assays for the TAP1 rs1135216 (A>G) and PSMB9 rs17587 (A>G) single nucleotide polymorphisms (SNPs). SNPStats software ( https://www.snpstats.net ) was utilized to choose the best interactive inheritance mode for selected SNPs. Results The genotype frequencies for the TAP1 rs1135216 and PSMB9 rs17587 SNPs were in Hardy–Weinberg equilibrium for cases ( P = 0.11 and P = 0.10, respectively) but not for controls ( P < 0.05). The TAP1 rs1135216 (D637G) and PSMB9 rs17587 (R60H) SNPs increased the risk of vitiligo four-fold and two-fold, respectively (odds ratio [OR]= 4.6; 95% confidence interval [CI], 3.2–6.5; P < 0.0001 and OR= 2.2; 95% CI, 1.5–3.1; P < 0.0001). The recessive model (G/G-D/G versus D/D) and the codominant model (R/R versus R/H) were the best models of inheritance for the rs113526 and rs17587 SNPs, respectively (OR= 16.4; 95% CI, 2.0–138; P = 0.0006 and OR= 1.7; 95% CI, 0.3–1.8; P = 0.013). Vulgaris, focal vulgaris, and acryl/acrofacial were the most common vitiligo subtypes in our sample (51%, 21%, and 19%, respectively). Heterozygous rs113526 (637D/G) and rs17587 (60R/H) were the most common genotypes in most vitiligo subtypes. The heterozygous 637D/G genotype and the 637G variant allele were significantly more common in patients with active disease than in patients with stable disease ( P = 0.000052 and P = 0.0063, respectively). Conclusion Our findings suggest a crucial role for TAP1 rs1135216 and PSMB9 rs17587 in the risk and progression of vitiligo in the Saudi community. Genomic analyses are needed to identify more candidate genes and more genetic variants associated with vitiligo.

Background: Fewer researches have been conducted on social phobia in the context of severe social inequality and poverty, as seen in most developing countries. In this study, we addressed the prevalence of Social Anxiety Disorder (SAD) among school students and teachers in Makkah city.Methodology: Using a standardized tool for investigating Social Phobia Inventory (SPIN), an online survey was distributed among schools during September 2022. After data collection, an appropriate statistical analysis was implemented. Results: A total of 396 participants were enrolled in this survey.This study showed a high prevalence of SAD, while students showed a high prevalence rate of SAD compared with teachers. Moreover, moderate levels of SAD represent the highest frequency among other SAD intensities. A significant variation was found between participants with a previous positive history of SAD and mild SAD (P-value, 0.002). Similarly, participants with no history of SAD show significant variation with both ''No SAD'' and ''Mild SAD'' (P-value, 0.002). Conclusion: This study reported a high prevalence of SAD compared to other studies. Accordingly, we recommend more studies in Saudi Arabia.

Background: The PSMB8 and PSMB9 immunoproteasome genes are essential in cell processes, such as decisions on cell survival or death, the cell cycle, and cellular differentiation. Because recent evidence has demonstrated an immunological role for proteasomes in various malignancies, including urothelial bladder carcinoma (UBC), we evaluated single nucleotide polymorphisms (SNPs) in PSMB9 and PSMB8. We determined any associations between these SNPs and susceptibility to UBC in the Saudi community.Methods: Samples of genomic DNA were taken from buccal cells of 111 patients with UBC and 78 healthy controls. TaqMan Real-Time PCR was used to determine genotype distributions and allele frequencies for the PSMB9 rs17587 G>A and PSMB8 rs2071543 G>T SNPs. We used SNPStats (https://www.snpstats.net) to choose each SNP's best interactive inheritance model.Results: The PSMB9 rs17587 SNP was associated with the risk of UBC (odds ratio [OR] = 5.21, P < 0.0001). In contrast, the PSMB8 rs2071543 SNP showed no association with UBC risk (OR = 1.13, P = 0.7871). In terms of genotypic distribution, the rs17587 G>A SNP was more frequent in UBC cases than controls in both the dominant (OR = 7.5; 95% confidence interval, 3.7-15.1; P = 0.0051) and recessive (OR = 17.11, 95% confidence interval 5.1-57.4; P = 0.0026) models. Genotypic distribution of the PSMB8 rs2071543 G>T SNP was not significantly different between cases and controls in any interactive inheritance models (P > 0.05).Conclusion: These results suggest a potential role for PSMB9 as a biomarker for increased UBC risk. Discovering more genetic variants within immunoproteasome genes related to antigen presentation could help further our understanding of this risk.

Growing knowledge supports the importance of microRNAs in cell growth regulation, differentiation, apoptosis, and tumorigenesis. We addressed the associations between miRNA variants and risk of urothelial bladder carcinoma (UBCa).Subjects and Methods: Sixty-six cases with UBCa (33 pTa, 13 pT1, 20 pT2) of low and high tumor grade (21 and 45 cases, respectively), and 156 healthy controls were genotyped for miR-196a2 rs11614913(C>T), miR-146a rs2910164(C>G), and miR-499 rs3746444(A>G) using TaqMan genotyping assays. Patients were stratified according to tumor stage, tumor grade, and risk of recurrence for UBCa. We used the SNPStats (https://www.snpstats.net) to choose best interactive model(s) of inheritance in selected miRNAs. Results:The rs3746444 SNP showed a potential association with risk of UBCa (odds ratio [OR]= 1.9; P= 0.012). Significant associations were found for rs3746444 (P= 0.013) in codominant models, and for rs11614913 (P= 0.048) in an additive model. The rs11614913T allele had a protective effect, while homozygotes for the C allele were associated with a significantly increased risk of UBCa compared with controls (χ2= 3.7; P= 0.05). Homozygosity of rs3746444A/A was more frequent in cases than controls (43.9% versus 30.8%). Despite its significant impact in diverse ethnic populations, the rs29101164 SNP did not show clear effects on UBCa. Besides, the presence of rs3746444A/A was associated with tumors of high grade (OR= 2.7; P= 0.046). Conclusion:This study was the first among the Saudi community to present a substantial function of miRNA biomarkers to predict UBCa, identify at-risk patients, and suggest a potential therapeutic target for UBCa.