Sex specific genomic insights into type 1 diabetes through genome-wide association studies (GWAS) and single cell transcriptome analysis
Authors' conclusion
Sex-stratified GWAS reveal novel T1D risk loci influenced by sex. Incorporating sex-specific effect sizes into PRS enhances risk discrimination, underscoring the value of sex-aware genetic analyses for precise prediction of T1D.
Study context
- Population
- T1D cases and controls of European ancestry; scRNA-seq of PBMCs from nine matched male-female pediatric pairs; independent cohort of 471 T1D cases and 2,300 controls6,599 cases · 12,350 controls
- Comparison
- Sex-specific polygenic risk scores (PRS) vs standard PRS
- Outcome
- Genome-wide significant SNPs with sex heterogeneity (P < 5x10-8)
Methodological detailssex-stratified, additive models, independent validation cohort
- Sex-stratified
- Additive models
- Independent validation cohort
Performance
As reported in the abstract
Genome-wide significant SNPs with heterogeneity
215
Male-specific SNPs
119
Female-specific SNPs
94
Further findings
| Outcome | Sex-specific PRS | Combined PRS | P value |
|---|---|---|---|
| PRS discrimination in males (independent cohort) | P < 2.2x10-16 | ||
| AUC | 0.668 | 0.623 | |
| PRS discrimination in females (independent cohort) | P < 2.2x10-16 | ||
| AUC | 0.719 | 0.635 |
Sex-specific T1D genes from scRNA-seq integration
- Sex-specific T1D genes with cell type-specific differential expression
- 41
Original publication
Sex specific genomic insights into type 1 diabetes through GWAS and single cell transcriptome analysis. Diabetes Res Clin Pract. Published 20 February 2026. doi:10.
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