Objectives: This study investigated the associations of the rs4671393, rs1427407, and rs11886868 genetic variants of the BCL11A gene and the rs9399137 variant of the HBS1L-MYB gene with thalassemia in patients from the population of Punjab, Pakistan. Methods: A cohort of 600 participants, comprising 300 patients with thalassemia and 300 age- and sex-matched healthy controls, was recruited from various hospitals in Punjab, Pakistan. DNA was extracted from whole blood samples from all participants. Specific DNA regions containing four genetic variants of interest were amplified with polymerase chain reaction. Results: The genotypic frequencies of the rs4671393 SNP of BCL11A indicated that the heterozygous (AG) genotype of this SNP was significantly associated with a nearly two-fold increased thalassemia risk, with respect to the control group (OR = 1.77; 95% CI = 1.77-2.80; p = 0.01). Combining all genotypes into a joint model further confirmed their significant association with thalassemia risk. Similarly to the findings for rs4671393, the heterozygous (CT) genotype of rs11886868 exhibited a significant association with thalassemia risk (approximately two-fold increased risk. Analysis of both genotypes together revealed a marginally significant association (one-fold increased risk) with thalassemia in individuals carrying any variant allele of rs11886868. The allelic distribution of the rs1427407 SNP of BCL11A indicated that the heterozygous (GT) genotype of this SNP was significantly associated with thalassemia (approximately two-fold increased risk, with respect to the control group). Combining all genotypes into a joint model confirmed a significant association between the presence of any variant allele of rs1427407 and thalassemia (two-fold increased risk). The genotypic distribution frequencies of the heterozygous (CT) genotype for the rs9399137 SNP of HBS1L-MYB was similar to that of rs1427407, and exhibited a highly significant association with thalassemia risk (nearly two-fold increased risk). Analysis of both genotypes together revealed a significant association with thalassemia risk (one-fold increase) for individuals carrying any variant allele of rs9399137. Conclusion: BCL11A and HBS1L-MYB polymorphisms were significantly associated with increased thalassemia risk.

Ovarian cancer remains one of the most lethal gynecological malignancies, with a high mortality rate primarily due to late-stage diagnosis. Genetic predispositions play a significant role in its development, alongside environmental and lifestyle factors. The main objective of the study was to check the association of XRCC1, XRCC3, and RAD51 gene polymorphism with ovarian cancer. In the present 300 ovarian cancer patients and 300 healthy controls blood samples collected. The results showed that the heterozygous (GA) genotype of rs25487 SNP shows significant correlation with ovarian cancer with decreased risk of disease (OR = 0.39; 95% CI = 0.17-0.88; p < 0.02), whereas the homozygous variant (AA) genotype of the same SNP exhibits a non-significant relation with ovarian cancer. The combined genotype model of this SNP indicated a highly significant association with increased risk of ovarian cancer by twofold (OR = 2.10;95% CI = 1.22-3.64; p < 0.007). In case of rs861539 heterozygous (CT) showed significant association by increasing the risk of disease almost threefold (OR = 2.73; 95% CI 1.68-4.41; p < 0.0001). while the mutant (TT) of the same SNP showed again significant association but with decreased risk of ovarian cancer (OR = 0.27; 95% CI 0.16-0.47; p < 0.0001). The genotype distribution of the RAD51 gene's SNP (rs1801320) shows that heterozygous (GC) individuals exhibit a significant correlation and increased risk of ovarian cancer by twofold (OR = 2.81;95% CI = 1.72-4.60; p ≤ 0.0001). Conversely, the mutant (CC) of rs1801320 exhibits a significant correlation with a decrease in the risk of ovarian cancer (OR = 0.32; 95% CI = 0.19-0.55; p < 0.0001). In conclusion, the study's findings suggest that a higher chance of ovarian cancer is related to the gene XRCC1, XRCC3, and RAD51 polymorphisms. In this study, SNPs were analyzed for their potential role as biomarkers for the diagnosis of ovarian cancer.

1. Hepatocellular carcinoma, also known as HCC, is the seventh most common tumor type and ranks as the second leading cause of death globally. The most common type of liver cancer, hepatocellular c...