• Asif Jan, Ramzi A Mothana, Jun-Ya Kaimori, Tahir Muhammad, Mehtab Khan, Syed Shaukat Ali, Naveed Rahman, and Abdullah R Alanzi.
• Asif Jan, District Headquarter Hospital (DHQH) Charsadda, Charsadda 24430, Pakistan. Department of Pharmacy, University of Peshawar, Peshawar 25000, Pakistan.
• Pak J Med Sci. 2024 Nov 1; 40 (10): 233623432336-2343.

Background And ObjectivePakistan, a South Asian developing country, is experiencing a rapid increase in number of diabetes cases. High prevalence ratio of diabetes in Pakistani population and lack of genetic research studies prompted us to design this study. This present study investigated Pakistani Pashtun population for (known and novel SNPs) and its possible correlation with Type-2 Diabetes Mellitus (T2DM).MethodsThis two stage (discovery & validation stage), case-control association study included one thousand individuals (Patients with T2DM=500 & controls=500) from eight districts of Khyber Pakhtunkhwa Pakistan. The study duration/period was from March 2018 to January 2020. In the first stage (the discovery stage) the target population was screened for known and novel T2DM-associated genetic markers. In the validation stage, identified variants were confirmed for T2DM association using MassARRAY genotyping and association analysis.ResultsExome sequencing detected eleven known and four novel/new genetic markers in the study population. Novel variants were preferred over the known for follow-up analysis/validation. Among the identified variants strong associations were confirmed for the following variants; rs1781133/ANKRD65 (OR=2.10, 95%Cl=1.06-3.08, P=0.003) rs2274791/TTLL10 (OR=1.97, 95%Cl=1.36-2.62, P=0.025), rs71628928/RNF223 (OR=1.82, 95%Cl=0.97-1.92, P=0.041), and rs609805/SCNN1D (OR=2.21, 95%Cl=1.92-3.09, P=0.001) with T2DM; other reported variants showed no noticeable association (having P>0.05) with T2DM.ConclusionThis study reports new genetic risk variants for T2DM in Pashtun population providing valuable insights into the genetic basis of T2DM in this group.Copyright: © Pakistan Journal of Medical Sciences.

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