Diabetes Risk Variants
Genetic factors affecting Type 2 Diabetes risk
TCF7L2 rs7903146
Genotype:
C/T
Risk Allele:T (present)
Effect:1.4x increased risk
Most significant common variant for T2D risk. Associated with impaired insulin secretion.
PPARG rs1801282
Genotype:
C/C
Effect:Neutral
KCNJ11 rs5219
Genotype:
C/T
Effect:1.1x increased risk
Monogenic Screening
High-penetrance diabetes genes
No High-Risk Variants Detected
• MODY genes (HNF1A, HNF4A, GCK, etc.): Normal
• Neonatal diabetes genes: Normal
• Syndromic diabetes genes: Normal
Screening covered 95% of known monogenic diabetes variants
Polygenic Risk Score
Combined effect of multiple variants
65th
Percentile for T2D risk
Population Average50th percentile
Ana's Score65th percentile
Based on 1,000+ genetic variants. Higher percentile indicates increased genetic predisposition.
Pharmacogenomics
Drug response predictions
Metformin Response
Normal
OCT1 variants: Normal transporter function expected
Sulfonylurea Response
Normal
CYP2C9 variants: Standard metabolism predicted
Statin Response
Increased Risk
SLCO1B1 variant: Higher risk of myopathy with simvastatin
Report Summary
Key findings and recommendations
Key Findings
- • TCF7L2 variant increases T2D risk by 40%
- • Polygenic risk score in 65th percentile
- • No monogenic diabetes variants detected
- • Normal drug metabolism for most diabetes medications
- • Increased statin-related myopathy risk
Clinical Implications
- • Enhanced diabetes screening recommended
- • Lifestyle interventions particularly important
- • Consider alternative to simvastatin if statin needed
- • Standard dosing for metformin appropriate
- • Family screening may be beneficial
Note: Genetic risk factors represent predisposition, not destiny. Lifestyle factors and environmental influences significantly impact disease development.