Evidence map›Paper›PMID 42650160›Full record

ArticleGenes2026

GWAS-Informed Candidate Genetic Variants and Gene-Gene/Gene-Environment Interaction Patterns Associated with Intervertebral Disc Degeneration: A Chinese Han Case-Control Study.

Ridan Lei, Mengyuan Zhang, Manjun Luo, Xiaorui Ruan, Jianhui Wei, Ziye Li, Jiabi Qin

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Article in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Ridan LeiDepartment of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Changsha 410013, China.
Mengyuan ZhangDepartment of Epidemiology and Health Statistics, School of Public Health, Kunming Medical University, Kunming 650500, China.
Manjun LuoDepartment of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Changsha 410013, China.
Xiaorui RuanDepartment of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Changsha 410013, China.
Jianhui WeiDepartment of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Changsha 410013, China.
Ziye LiDepartment of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Changsha 410013, China.
Jiabi QinDepartment of Epidemiology and Health Statistics, School of Public Health, Kunming Medical University, Kunming 650500, China.ORCID 0000-0002-9360-4991

Funding

Changsha Municipal Natural Science Foundation kq2202470Hunan Outstanding Youth Fund Project 2022JJ10087Hunan Provincial Key Research and Development Program 2018SK2063Hunan Provincial Science and Technology Talent Support Project 2020TJ-N07National Natural Science Foundation of China 82473644, 82404362 and 82073653Natural Science Foundation of Hunan Province of China 2022JJ40207
6 · The paper itself

Abstract

BACKGROUND/

objectivesIntervertebral disc degeneration (IDD) is a multifactorial spinal degenerative condition influenced by inherited susceptibility and environmental exposures. Genetic evidence from Chinese Han populations remains limited. This study aimed to evaluate GWAS-informed and previously reported candidate single-nucleotide polymorphisms (SNPs) associated with IDD and to explore potential gene-gene and gene-environment interaction patterns.

methodsA hospital-based case-control study was conducted in 1951 unrelated Chinese Han participants, including 929 patients with magnetic resonance imaging-confirmed IDD and 1022 control subjects without evident IDD. Candidate SNPs were genotyped using the MassARRAY platform. Multivariable logistic regression was used to assess genetic associations under different genetic models, and linkage disequilibrium, haplotype associations, additive and multiplicative interactions, and generalized multifactor dimensionality reduction (GMDR) were further evaluated.

resultsOf the 60 initially selected candidate SNPs, 49 passed quality control and were retained for association analyses. Several variants showed nominal associations with IDD susceptibility. Representative associations included

conclusionsThis study provides preliminary genetic epidemiological evidence that GWAS-informed candidate variants and exploratory interaction patterns may be associated with IDD susceptibility in the Chinese Han population. These findings require further replication and functional validation.

Indexed as

Gene-Environment InteractionGenetic Predisposition to DiseaseIntervertebral Disc DegenerationPolymorphism, Single NucleotideAdultCase-Control StudiesChinaEast Asian PeopleEpistasis, GeneticFemaleGenome-Wide Association StudyHaplotypesHumansLinkage DisequilibriumMaleMatrix Metalloproteinase 3Matrix Metalloproteinase 3MMP3 protein, humanReceptors, Calcitriolcase–control studyChinese Han populationgene–environment interactiongene–gene interactiongenetic susceptibilityhaplotypeintervertebral disc degenerationsingle-nucleotide polymorphism

Identifiers

PMID42650160
PMCPMC13511863

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.