Genetic Anchoring of Stromal Cellular Programs Relevant to Ligamentum Flavum Remodeling in Lumbar Spinal Stenosis

Background/Objectives: Lumbar spinal stenosis (LSS) has a substantial inherited component, but the cellular contexts in which genetic susceptibility acts remain incompletely resolved. We integrated large-scale human genetics with a donor-resolved spinal-ligament single-cell resource and an external ligamentum flavum (LF) expression dataset to localize inherited susceptibility and prioritize regulatory candidates. Methods: We reconstructed a nine-donor spinal-ligament single-cell resource and derived donor-aware Broad Stromal and degenerative-LSS-associated Stromal transcriptional programs. These programs were evaluated using stratified LD score regression (S-LDSC) against an LSS genome-wide association dataset of 40,303 cases and 741,468 controls, followed by gene-based association, fine-mapping, target-aware molecular colocalization, donor-robustness analyses, and external LF tissue directional sensitivity. Results: The Broad Stromal annotation was the strongest and only multiple-testing-significant positive annotation in the primary prespecified one-at-a-time S-LDSC analysis (coefficient = 6.48 × 10−8, p = 0.0031, BH-FDR = 0.0245), whereas the disease-associated Stromal program was not significantly enriched. Donor-aware Stromal pseudobulk analysis identified 106 differentially expressed genes at FDR < 0.05, with high leave-one-donor-out directional stability. Cross-layer integration prioritized six genes. CRLF1 showed the most complete candidate-specific regulatory convergence, including an eight-variant credible set and GTEx skeletal-muscle CRLF1 colocalization at rs2074177 (PP.H4 = 0.974), while MMP14 showed stronger disease-associated differential expression and a narrower two-variant credible set. Conclusions: Inherited LSS susceptibility preferentially localizes to a broad spinal-ligament Stromal cellular/regulatory context rather than establishing genetic mediation of the observed disease-associated transcriptional state. CRLF1 and MMP14 represent complementary candidates for tissue-specific functional validation.

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Journal
Genes
Published
2026-10-14
DOI
https://doi.org/10.3390/genes17101281
Primary Topic
Spine and Intervertebral Disc Pathology
Type
article
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article

Genetic Anchoring of Stromal Cellular Programs Relevant to Ligamentum Flavum Remodeling in Lumbar Spinal Stenosis

Shihe Chen, Yufei Hua, Qinglin Bai, Xin Jiang et al.
Genes
Spine and Intervertebral Disc Pathology
article

Genetic Anchoring of Stromal Cellular Programs Relevant to Ligamentum Flavum Remodeling in Lumbar Spinal Stenosis

Shihe Chen, Yufei Hua, Qinglin Bai, Xin Jiang, Dong Chen
article en

Abstract

Background/Objectives: Lumbar spinal stenosis (LSS) has a substantial inherited component, but the cellular contexts in which genetic susceptibility acts remain incompletely resolved. We integrated large-scale human genetics with a donor-resolved spinal-ligament single-cell resource and an external ligamentum flavum (LF) expression dataset to localize inherited susceptibility and prioritize regulatory candidates. Methods: We reconstructed a nine-donor spinal-ligament single-cell resource and derived donor-aware Broad Stromal and degenerative-LSS-associated Stromal transcriptional programs. These programs were evaluated using stratified LD score regression (S-LDSC) against an LSS genome-wide association dataset of 40,303 cases and 741,468 controls, followed by gene-based association, fine-mapping, target-aware molecular colocalization, donor-robustness analyses, and external LF tissue directional sensitivity. Results: The Broad Stromal annotation was the strongest and only multiple-testing-significant positive annotation in the primary prespecified one-at-a-time S-LDSC analysis (coefficient = 6.48 × 10−8, p = 0.0031, BH-FDR = 0.0245), whereas the disease-associated Stromal program was not significantly enriched. Donor-aware Stromal pseudobulk analysis identified 106 differentially expressed genes at FDR < 0.05, with high leave-one-donor-out directional stability. Cross-layer integration prioritized six genes. CRLF1 showed the most complete candidate-specific regulatory convergence, including an eight-variant credible set and GTEx skeletal-muscle CRLF1 colocalization at rs2074177 (PP.H4 = 0.974), while MMP14 showed stronger disease-associated differential expression and a narrower two-variant credible set. Conclusions: Inherited LSS susceptibility preferentially localizes to a broad spinal-ligament Stromal cellular/regulatory context rather than establishing genetic mediation of the observed disease-associated transcriptional state. CRLF1 and MMP14 represent complementary candidates for tissue-specific functional validation.

GenesVol. 17(10)
Beijing University of Chinese Medicine (CN), Chinese Academy of Medical Sciences & Peking Union Medical College (CN), Peking University (CN), China-Japan Friendship Hospital (CN)
Good health and well-being
Openalex Percentile: Top 13%
Spine and Intervertebral Disc Pathology
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