Egyptian Journal of Medical Human Genetics (Jan 2025)
Analysis of genetic and pathologic association between diabetes mellitus and cervical cancer
Abstract
Abstract Background Cervical cancer is the fourth most common cancer among women globally and second most common in India. As per WHO, almost 90% of new cases and deaths worldwide occurred in low- to middle-income countries in 2020. More than 95% of cervical cancers are associated with chronic Human papilloma virus infection (HPV). While high-income countries benefit from vaccination and screening programmes, such facilities are often unavailable in low- and middle-income regions. Diabetes is also rising in prevalence in these regions. It is associated with a higher risk of various cancers, including cervical, endometrial, stomach, breast, and pancreas cancers. Diabetic cancer patients are also observed to have poorer survival outcomes. This study aims to compare the prevalence of cervical pathologies in diabetic and non-diabetic females of reproductive age and investigate potential genetic overlaps. Methods We analysed pap smear records from diabetic and non-diabetic females and examined genetic data using GWAS to explore associations between diabetes mellitus, HPV infection, and cervical cancer. Results In total, 3325 pathologic sample records were analysed and 2411 genes were identified and explored for overlap between diabetes and cervical pathologies from available GWAS data. It was noted that diabetes was associated with higher occurrence of cervical pathologies like vaginitis (OR 1.42), cervicitis (OR 13.89), HPV infection (OR 2.38) and malignant changes (OR 1.29). On analysing available genetic data for diabetes mellitus (types 1 and 2), chronic HPV infection, CIN and cervical cancer, certain genes showed positive association with both spectrums (diabetes mellitus and cervical pathologies) like COLL11A2P1 (beta 0.06), INS-IGF2 (OR 1.63), TTC7B (OR 2.05) and SILC1 (OR 2.12). Conclusion The pathologic and genetic association may help in understanding the connection between the two diseases in a better way. It may also help in guiding targeted approach and screening programmes in regions with higher preponderance towards upregulation of such genes.
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