Diabetes Mellitus in Pakistan: A Secondary Analysis of Prevalence, Environmental Determinants, and Genetic Susceptibility

Pakistan has one of the highest rates of diabetes mellitus in the world, yet the exact prevalence remains debated, and the underlying environmental and genetic drivers are not fully understood. This secondary research article synthesizes existing epidemiological evidence to quantify the prevalence of diabetes in Pakistan and to critically evaluate the environmental and genetic factors responsible. PubMed, Google Scholar, and Pakistan's national survey reports published between 2010 and 2024 were used, including studies that reported diabetes prevalence in Pakistani adults or examined lifestyle or genetic risk factors in Pakistani populations. The results show that prevalence estimates vary substantially by diagnostic method: the National Diabetes Survey of Pakistan (NDSP-II), which used the Oral Glucose Tolerance Test (OGTT), found that 26.3% of adults have diabetes and another 14% have pre-diabetes, whereas the Diabetes Prevalence Survey of Pakistan (DPS-PAK), which used the HbA1c test, found lower rates of 16.98% and 10.91%, respectively, with the true prevalence likely lying somewhere between these figures. Urban areas have consistently higher rates (approximately 29%) than rural areas (20%). Major environmental risk factors include high consumption of refined carbohydrates (white rice, naan), sedentary lifestyles (68% of urban adults are inactive), abdominal obesity (odds ratio 3.2), and endemic vitamin D deficiency. On the genetic side, Pakistani populations carry a high frequency of risk alleles in the TCF7L2 gene (rs7903146) and KCNQ1 gene, which impair insulin secretion, and having a first-degree relative with diabetes increases personal risk more than threefold. Gene-environment interactions further amplify risk, as the "thrifty genotype" evolved for energy storage becomes maladaptive in the setting of rapid nutrition transition, while vitamin D deficiency-present in up to 78% of diabetics-worsens insulin secretion. The alarming prevalence arises from this dangerous synergy between genetic susceptibility and environmental changes, including urbanization, mechanization, and dietary shifts from whole grains to refined carbohydrates. Public health interventions must prioritize lifestyle modification, early screening of high-risk families, vitamin D fortification, and standardized diagnostic methods. Without urgent multi-sectoral action, diabetes will overwhelm Pakistan's healthcare system, and future research should focus on affordable prevention strategies tailored to high-risk genetic subgroups.