ArticleThe Journal of clinical endocrinology and metabolism2025
Rare Variation in LMNA Underlies Polycystic Ovary Syndrome Pathogenesis in 2 Independent Cohorts.
Article in The Journal of clinical endocrinology and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- POLYCYSTIC OVARY SYNDROME: ORIGINS AND IMPLICATIONS: Genetics of polycystic ovary syndrome (PCOS).Reproduction (Cambridge, England) · 2025Review
- Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.medRxiv : the preprint server for health sciences · 2025Article
- Identifying nutraceutical targets to treat polycystic ovary syndrome using graph representation learning.npj women's health · 2025Article
- Insulin Resistance in Polycystic Ovary Syndrome: Mechanistic Insights and Therapeutic Perspectives Independent of Obesity.Gynecology and minimally invasive therapyReview
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8 authors.
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Abstract
contextPolycystic ovary syndrome (PCOS) is a common, heritable endocrinopathy that is a common cause of anovulatory infertility in reproductive age women. Variants in LMNA cause partial lipodystrophy, a syndrome with overlapping features to PCOS.
objectiveWe tested the hypothesis that rare variation in LMNA contributes to PCOS pathogenesis and selects a lipodystrophy-like subtype of PCOS.
methodsWe sequenced LMNA by targeted sequencing a Discovery cohort of 811 PCOS patients and 164 healthy controls. We then analyzed LMNA from whole-exome sequencing of a Replication cohort of 718 PCOS patients and 281 healthy controls. We evaluated variation in the LMNA gene and hormone and lipid profiles of participants.
resultsIn the Discovery cohort, we identified 8 missense variants in 15/811 cases, and 1 variant in 1/172 reproductively healthy controls. There is strong evidence for association between the variants and PCOS compared to gnomAD non-Finnish European population controls (χ2 = 17, P = 3.7 × 10-5, OR = 2.9). In the Replication cohort, we identified 11 unique variants in 15/718 cases, and 1 variant in 281 reproductively healthy controls. Again, there is strong evidence for association with population controls (χ2 = 30.5, P = 3.4 × 10-8, OR = 4.0). In both the Discovery and Replication cohorts, variants in LMNA identify women with PCOS with high triglycerides and extreme insulin resistance.
conclusionRare missense variation in LMNA is reproducibly associated with PCOS and identifies some individuals with lipodystrophy-like features. The overlap between this PCOS phenotype and genetic partial lipodystrophy syndromes warrants further investigation into additional lipodystrophy genes and their potential in PCOS etiology.
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