Polycystic Ovary Syndrome Physiologic Pathways Implicated Through Clustering of Genetic Loci
Authors' conclusion
Distinct genetic backgrounds in individuals with PCOS may underlie clinical heterogeneity and disease outcomes.
Study context
- Population
- 60 polycystic ovary syndrome (PCOS)-associated genetic variants and 49 traits; clinical phenotypes in Mass General Brigham Biobank (MGBB); outcomes via DIAMANTE and CARDIOGRAM/UKBBMGBB · outcomes via DIAMANTE 898,130 · CARDIOGRAM/UKBB 547,261
- Participants
- 62,252 participants
- Comparison
- Cluster 1 vs Cluster 2 vs Cluster 3 vs Cluster 4
- Outcome
- Association of cluster pPS with clinical traits
Methodological detailscluster analysis of genome-wide association studies (GWAS) loci, partitioned polygenic scores, GWAS summary statistics, biobank replication
- Cluster analysis of GWAS loci
- Partitioned polygenic scores
- GWAS summary statistics
- Biobank replication
Main finding
As reported in the abstract
- Cluster 1 partitioned polygenic scores (pPS) with increased BMI
- P = 6.6 × 10-29
- Cluster 2 pPS with increased age of menarche
- P = 1.5 × 10-4
- Cluster 3 pPS with multiple decreased blood markers, incl. mean platelet volume
- P = 3.1 ×10-5
- Cluster 4 pPS with increased alkaline phosphatase
- P = .007
Further findings
T2D (GWAS-based pPS)
- Cluster 1 pPS with increased T2D, OR
- 1.07
- P
- P = 7.3 × 10-50
T2D replication in MGBB, all participants
- Cluster 1 pPS, OR
- 1.09
- P
- P = 2.7 × 10-7
T2D replication in MGBB, females only
- Cluster 1 pPS, OR
- 1.11
- P
- 4.8 × 10-5
Original publication
Polycystic Ovary Syndrome Physiologic Pathways Implicated Through Clustering of Genetic Loci. J Clin Endocrinol Metab. Published 15 November 2023. doi:10.
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