Detection of Hepatocyte Nuclear Factor 1 Alpha (HNF1A) Gene Variants Among the Diabetic Patients Attending a Tertiary Health Facility in Lagos, Nigeria

Abstract

Diabetes mellitus (DM) is a long-term metabolic condition characterised by persistent hyperglycaemia and serious complications. It remains a major public health challenge worldwide, including in Nigeria. While lifestyle and environmental factors are well known, genetic influences also contribute to disease development, progression, and treatment response. One gene of particular interest, Hepatocyte Nuclear Factor 1 Alpha (HNF1A), regulates liver genes involved in glucose metabolism, insulin secretion, and transport. Variants in this gene have been linked to Maturity-Onset Diabetes of the Young (MODY) as well as Type 2 Diabetes Mellitus (T2DM). However, information on these variants in Nigerian populations is limited. This study investigated HNF1A gene variants in 100 adults (47% male, 53% female; mean age 46.5 years) attending the Federal Medical Centre, Ebute-Meta, Lagos. Blood glucose and glycated haemoglobin (HbA1c) were measured, and genomic DNA was analysed for HNF1A variants using Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP). A strikingly high prevalence of polymorphisms was observed, with 95% of participants carrying exon 1 variants before restriction digestion. Exon 1 displayed three distinct band patterns, while exons 2–5 showed single but variable bands, indicating genetic diversity. Individuals with exon 1 and exon 5 variants had higher fasting glucose and HbA1c levels, suggesting that these polymorphisms may contribute to impaired glycaemic control. In summary, HNF1A variants are common in both diabetic and non-diabetic Nigerians. Incorporating genetic screening into routine practice could enhance the diagnosis, treatment, and prevention of diabetes in the population.