Programme: BIochemistry

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Here you will find works strictly related to Biochemistry

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Start date: 2025Subject: search.filters.subject.Polymorphism

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Now showing 1 - 4 of 4
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    INVESTIGATION OF THE ASSOCIATION OF CYSTATHIONINE GAMMA-LYASE (CTH) AND VITAMIN D-BINDING PROTEIN (GC) GENES POLYMORPHISMS WITH PREECLAMPSIA IN SOME PREGNANT WOMEN ATTENDING PRENATAL CARE AT A GENERAL HOSPITAL IN LAGOS NIGERIA
    (Science World Journal Vol. 20, 2025) Igbalaye, Jimoh O.; Wusu, Adedoja D.; Oyedapo, Abiola F.; Ajape, Azeezat O.; Shakunle, Adebusola; Fatai, Azeez A.; Rotimi, Solomon O.
    Preeclampsia is associated with high maternal and foetal morbidity and mortality. Studies have demonstrated that polymorphisms in the genes that regulate vascular dynamics may play vital roles in the development of chronic hypertension and preeclampsia. This study aimed to evaluate the relationship between polymorphisms in the rs1021737G>T of the cystathionine gamma-lyase (CTH), and rs7041G>T & rs4588C>A of the vitamin D-binding protein (GC) genes and the risk of preeclampsia in pregnant Nigerian women. A case-control study was conducted. Blood samples collected from 73 patients (8 cases and 65 controls) were used for DNA genotyping, while 101 patient blood samples (15 cases and 86 controls) were utilised for the plasma H2S levels evaluation. The examined polymorphisms were determined using the PCR-RFLP method. Unconditional logistic regression analysis reveals no statistically significant difference among the odds ratio (OR) and 95% confidence interval (CI) of the genotypes and alleles for the rs1021737G>T of the CTH gene, and rs7041G>T & rs4588C>A of the GC gene. Furthermore, there were no relationships between studied polymorphisms and selected clinical parameters. The preeclamptic pregnant women showed no statistically significant difference in plasma H2S level (32.8715.16 vs. 56.2933.34 μM, p = 0.055) as compared with the control group. This study suggests that examined polymorphisms in the CTH and GC genes are not associated with preeclampsia development in pregnant Nigerian women. Further studies with large sample sizes are needed to confirm these findings.
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    ASSOCIATION OF HYPOXIA AND ANDROGEN SIGNALLING GENE POLYMORPHISMS WITH PROSTATE CANCER IN NIGERIAN MEN
    (Covenant University Ota, 2025-09) ALABI, Kehinde Elizabeth; Covenant University Dissertation
    Prostate cancer (PCa) remains a major health concern, particularly in Nigeria, where incidence and mortality are high. Globally, PCa is a leading malignancy among men. Genetic variations, such as single-nucleotide polymorphisms (SNPs), may influence PCa susceptibility and progression. This study investigates the association of three SNPs, rs11549465 (Hypoxia Inducible Factor 1A), rs3211938 (Cluster of Differentiation 36), and rs6152 (Androgen Receptor), with PCa risk and severity in Nigerian men. A case-control study was conducted involving 73 PCa patients and 80 healthy controls. Genotyping was performed using the TaqMan assay, and allele and genotype frequencies were calculated. The rs6152 SNP showed a higher frequency of the A/G genotype in cases (24%) than controls (9.7%), with an odds ratio of 4.95 (95% CI: 1.54–17.35; p = 0.0091), suggesting a significant association with increased PCa risk. For rs11549465, the C/T genotype was more prevalent in cases (10.1%) than controls (2.6%), with an OR of 0.24 (95% CI: 0.02–1.33; p = 0.061), indicating a possible protective effect, though not statistically significant. The rs3211938 SNP showed no significant association with PCa risk. No investigated SNP showed a statistically significant association with the Gleason score. For rs11549465, the mean score for C/C was 7.34 compared with 7.75 highlighting the role of genetic factors in susceptibility. Further studies with larger cohorts are warranted to validate these associations and explore their potential in personalised medicine for PCa management in African populations. for C/T (Mann–Whitney U = 66.0, p = 0.673). For rs3211938, T/T had a mean of 7.29 versus 7.64 for G/T (Mann–Whitney U = 199.0, p = 0.407). For rs6152, A/A, A/G, and G/G showed mean scores of 7.36, 6.00, and 7.80, respectively (Kruskal–Wallis H = 1.62, p = 0.445). These findings suggest a significant association between rs6152 and PCa risk in Nigerian men,
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    ALABI, Kehinde Elizabeth
    (Covenant University Ota, 2025)
    Prostate cancer (PCa) remains a major health concern, particularly in Nigeria, where incidence and mortality are high. Globally, PCa is a leading malignancy among men. Genetic variations, such as single-nucleotide polymorphisms (SNPs), may influence PCa susceptibility and progression. This study investigates the association of three SNPs, rs11549465 (Hypoxia Inducible Factor 1A), rs3211938 (Cluster of Differentiation 36), and rs6152 (Androgen Receptor), with PCa risk and severity in Nigerian men. A case-control study was conducted involving 73 PCa patients and 80 healthy controls. Genotyping was performed using the TaqMan assay, and allele and genotype frequencies were calculated. The rs6152 SNP showed a higher frequency of the A/G genotype in cases (24%) than controls (9.7%), with an odds ratio of 4.95 (95% CI: 1.54–17.35; p = 0.0091), suggesting a significant association with increased PCa risk. For rs11549465, the C/T genotype was more prevalent in cases (10.1%) than controls (2.6%), with an OR of 0.24 (95% CI: 0.02–1.33; p = 0.061), indicating a possible protective effect, though not statistically significant. The rs3211938 SNP showed no significant association with PCa risk. No investigated SNP showed a statistically significant association with the Gleason score. For rs11549465, the mean score for C/C was 7.34 compared with 7.75 for C/T (Mann–Whitney U = 66.0, p = 0.673). For rs3211938, T/T had a mean of 7.29 versus 7.64 for G/T (Mann–Whitney U = 199.0, p = 0.407). For rs6152, A/A, A/G, and G/G showed mean scores of 7.36, 6.00, and 7.80, respectively (Kruskal–Wallis H = 1.62, p = 0.445). These findings suggest a significant association between rs6152 and PCa risk in Nigerian men, highlighting the role of genetic factors in susceptibility. Further studies with larger cohorts are warranted to validate these associations and explore their potential in personalised medicine for PCa management in African populations.
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    ASSOCIATION OF COMT AND CYP1B1 POLYMORPHISMS WITH PROSTATE CANCER RISK IN NIGERIAN MEN
    (Covenant University Ota, 2025-09) Pirisola, Ayomikun Joshua; Covenant University Dissertation
    Prostate cancer (PCa) disproportionately affects men of African descent, with Nigeria recording high mortality rates, yet genetic studies in this population remain sparse. This study investigated the association between COMT rs4680 Val158Met, rs9332377, and CYP1B1 rs1056836 genetic variants and PCa risk and severity in Nigerian men. This case-control study involved 65 histologically confirmed PCa patients aged (median) 65 years old and 59 healthy controls aged (median) 60 years old. Genomic DNA was extracted from whole blood. Genotyping was conducted via TaqMan real-time PCR. Chi-square tests were conducted to compare genotype/allele frequencies, and associations were estimated using unadjusted logistic regression odds ratios (ORs) with 95% confidence intervals. Kruskal-Wallis tests and Spearman correlations were used to examine correlations with Gleason scores. Findings showed that there is a significant genotype and allele difference in COMT rs4680, where low-activity AA is the genotype that presents high risk (OR=9.50, 95% CI: 3.08-36.42, p<0.001 vs. GG), under genotypic as well as dominant models. In the case of rs9332377, the effect of the TT genotype showed a trend towards a protective effect but did not reach statistical significance (OR=0.21, 95% CI: 0.03-0.94, p=0.062 vs. CC). There were significant differences in CYP1B1 rs1056836, with the C alleles higher in cases (83.7% vs. 13.6%), and the GG risk being borderline (OR=4.074, p=0.056). None of the variants were significantly correlated with Gleason scores (p>0.05), although there was a trend in the case of rs1056836 (Spearman rho=0.263, p=0.089). These results suggest that genetic variation in COMT and CYP1B1 may contribute to PCa susceptibility among Nigerian men, potentially through impaired oestrogen detoxification pathways. Further validation in larger cohorts, with adjustments for environmental factors and comparisons across populations, is needed to clarify these associations.