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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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For most patients, experiencing several weeks of polyuria, polydipsia, fatigue, and significant weight loss may indicate the presence of diabetes. Furthermore, adults displaying the phenotypic appearance of type 2 diabetes (particularly those who are obese and not initially insulin-requiring), may have islet cell autoantibodies, suggesting autoimmune-mediated β cell destruction and a diagnosis of latent autoimmune diabetes of adults (LADA). The categorization of glucose homeostasis is...
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The therapy for diabetes aims to alleviate hyperglycemia-related symptoms, prevent acute metabolic decompensation, and reduce chronic end-organ complications. Glycemic control is evaluated through short-term (self-monitoring, continuous glucose monitoring) and long-term (A1c, fructosamine) metrics, enabling near real-time tracking of blood glucose levels and reflecting glycemic control over specific time frames.
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Diabetes Mellitus: Overview and Type I Subtype01:22

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Updated: Jan 13, 2026

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Real-World Utility of GWAS-Based Diabetes Mellitus Panel Testing.

In Hwa Jeong1, Kyung-Won Hong2, Ja-Eun Choi2

  • 1Department of Laboratory Medicine, Dong-A University College of Medicine, Dong-A University Hospital, Busan 49201, Republic of Korea.

International Journal of Molecular Sciences
|January 10, 2026
PubMed
Summary
This summary is machine-generated.

A polygenic risk score (PRS) test can identify individuals at high risk for diabetes mellitus (DM). This genetic testing approach, combined with lifestyle factors like smoking, helps predict diabetes development and stratify risk effectively.

Keywords:
CDKAL1HHEXKCNQ1Polygenic risk scoreReal-world evidenceTCF7L2Type 2 diabetes mellitusgenome-wide association study

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Area of Science:

  • Genetics and Genomics
  • Metabolic Diseases
  • Preventive Medicine

Background:

  • Diabetes mellitus (DM) poses a significant global health challenge.
  • Early identification of at-risk individuals is crucial for preventive strategies.
  • Polygenic risk scores (PRS) offer a promising tool for assessing genetic predisposition to complex diseases like DM.

Purpose of the Study:

  • To evaluate the clinical utility of a PRS-based multigene panel test for predicting DM risk in a healthy population.
  • To assess the association between PRS, genetic variants, and clinical outcomes (fasting blood glucose, HbA1c).
  • To investigate potential interactions between genetic risk and lifestyle factors (smoking, alcohol, exercise) in DM development.

Main Methods:

  • A cohort of 302 healthy individuals underwent genetic testing using a DM-specific multigene panel.
  • PRS was calculated using a validated algorithm based on Korean Genome and Epidemiology Study (KoGES) data.
  • Participants were categorized into four genetic risk groups (low, moderate, high, very high) and followed for at least three years, with clinical and lifestyle data collected.

Main Results:

  • The very high-risk PRS group exhibited significantly higher fasting blood glucose and HbA1c levels at follow-up.
  • Individuals in the very high-risk group had a 4.5-fold increased risk of developing DM compared to other groups.
  • Smoking significantly interacted with genetic risk, increasing DM likelihood by 25% in the very high-risk group. Specific gene variants (CDKAL1, HHEX, TCF7L2) showed differential prevalence across risk groups.

Conclusions:

  • PRS-based genetic testing demonstrates clinical utility in stratifying individuals by relative diabetes risk.
  • Genetic susceptibility interacts with lifestyle factors, particularly smoking, in the development of DM.
  • This approach may aid in personalized risk assessment and targeted preventive interventions for diabetes mellitus.