Investigation of the STOX1 Polymorphism on Lumbar Disc Herniation

Overview

Journal Mol Genet Genomic Med

Specialty Genetics

Date 2019 Nov 15

PMID 31724315

Citations 7

Authors

Xuejun Yang

Feng Li

Daqi Xin

Zhi Huang

Jianmin Xue

Bo Wang

Yifeng Da

Wenhua Xing

Yong Zhu

Affiliations

Soon will be listed here.

Abstract

Background: Lumbar disc herniation (LDH) is a common musculoskeletal disorder affliction and associated with several genes polymorphism. Storkhead box 1 (STOX1) gene is a transcriptional factor related with several signaling pathways including inflammatory pathway. However, little is known about single-nucleotide polymorphisms (SNPs) of STOX1 associated with LDH risk.

Methods: We conducted a case-control study among 508 LDH cases and well-matched 508 controls, and six candidate SNPs in STOX1 were genotyped by Agena MassARRAY. Chi-squared test, genetic model, and haploview analysis were used to evaluate associations. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by unconditional logistic regression.

Results: In the allelic model analysis, we found the minor allele "T" of rs7903209 and "A" of rs4472827 were associated with an increased risk of LDH (p = .029, p = .016). Furthermore, in the genotype model analysis, rs7903209 polymorphism was associated with the increased susceptibility of LDH based on dominant (p = .033) and additive model (p = .024); and rs4472827 variant was found to play a harmful role in the LDH risk based on genotype (p = .014), dominant (p = .012), and additive model (p = .015). In the haplotype analysis, the haplotype "GT" in block (rs10998461 and rs10998468) decreased LDH risk (OR = 0.7, 95% CI = 0.52-0.93, p = .016). Functional assessment indicated that rs7903209 and rs4472827 polymorphisms may influence the expression of STOX1.

Conclusion: Our results provide evidence for polymorphisms of rs7903209 and rs4472827 in STOX1 associated with LDH risk in Chinese Han population.

Citing Articles

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Association between polymorphisms and the risk of Lumbar disc herniation in Chinese Han population.

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References

Nie X, Zhang K, Wang L, Ou G, Zhu H, Gao W . Transcription factor STOX1 regulates proliferation of inner ear epithelial cells via the AKT pathway. Cell Prolif. 2015; 48(2):209-20. PMC: 6495863. DOI: 10.1111/cpr.12174. View

Tuteja G, Kaestner K . SnapShot: forkhead transcription factors I. Cell. 2007; 130(6):1160. DOI: 10.1016/j.cell.2007.09.005. View

Jiang H, Yang Q, Jiang J, Zhan X, Xiao Z . Association between (rs1337185) and (rs162509) gene polymorphisms and lumbar spine pathologies in Chinese Han population: an observational study. BMJ Open. 2017; 7(5):e015644. PMC: 5623369. DOI: 10.1136/bmjopen-2016-015644. View

Shi Y, He L . SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res. 2005; 15(2):97-8. DOI: 10.1038/sj.cr.7290272. View

Bjornsdottir G, Benonisdottir S, Sveinbjornsson G, Styrkarsdottir U, Thorleifsson G, Walters G . Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation. Nat Commun. 2017; 8:14265. PMC: 5322534. DOI: 10.1038/ncomms14265. View

Yang X, Li F, Xin D, Huang Z, Xue J, Wang B . Investigation of the STOX1 polymorphism on lumbar disc herniation. Mol Genet Genomic Med. 2019; 8(1):e1038. PMC: 6978251. DOI: 10.1002/mgg3.1038. View

Pfirrmann C, Metzdorf A, Zanetti M, Hodler J, Boos N . Magnetic resonance classification of lumbar intervertebral disc degeneration. Spine (Phila Pa 1976). 2001; 26(17):1873-8. DOI: 10.1097/00007632-200109010-00011. View

Barrett J, Fry B, Maller J, Daly M . Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2004; 21(2):263-5. DOI: 10.1093/bioinformatics/bth457. View

Han L, Zhao P, Guo W, Wei J, Wang F, Fan Y . Short-term study on risk-benefit outcomes of two spinal manipulative therapies in the treatment of acute radiculopathy caused by lumbar disc herniation: study protocol for a randomized controlled trial. Trials. 2015; 16:122. PMC: 4380109. DOI: 10.1186/s13063-015-0634-0. View

10.

Doridot L, Passet B, Mehats C, Rigourd V, Barbaux S, Ducat A . Preeclampsia-like symptoms induced in mice by fetoplacental expression of STOX1 are reversed by aspirin treatment. Hypertension. 2013; 61(3):662-8. DOI: 10.1161/HYPERTENSIONAHA.111.202994. View

11.

Hoyland J, Le Maitre C, Freemont A . Investigation of the role of IL-1 and TNF in matrix degradation in the intervertebral disc. Rheumatology (Oxford). 2008; 47(6):809-14. DOI: 10.1093/rheumatology/ken056. View

12.

Qin X, Xu L, Xia C, Zhu W, Sun W, Liu Z . Genetic Variant of GPR126 Gene is Functionally Associated With Adolescent Idiopathic Scoliosis in Chinese Population. Spine (Phila Pa 1976). 2017; 42(19):E1098-E1103. DOI: 10.1097/BRS.0000000000002123. View

13.

Weber K, Alipui D, Sison C, Bloom O, Quraishi S, Overby M . Serum levels of the proinflammatory cytokine interleukin-6 vary based on diagnoses in individuals with lumbar intervertebral disc diseases. Arthritis Res Ther. 2016; 18:3. PMC: 4718017. DOI: 10.1186/s13075-015-0887-8. View

14.

Liu Q, Jin L, Shen F, Balian G, Li X . Fullerol nanoparticles suppress inflammatory response and adipogenesis of vertebral bone marrow stromal cells--a potential novel treatment for intervertebral disc degeneration. Spine J. 2013; 13(11):1571-80. PMC: 3841235. DOI: 10.1016/j.spinee.2013.04.004. View

15.

Zhang C, Ji Z, Wang M, Zhang W, Yang R, An H . Stox1 as a novel transcriptional suppressor of Math1 during cerebellar granule neurogenesis and medulloblastoma formation. Cell Death Differ. 2016; 23(12):2042-2053. PMC: 5136492. DOI: 10.1038/cdd.2016.85. View

16.

George E, Bidwell G . STOX1: a new player in preeclampsia?. Hypertension. 2013; 61(3):561-3. PMC: 4199576. DOI: 10.1161/HYPERTENSIONAHA.111.00721. View

17.

van Dijk M, van Bezu J, Poutsma A, Veerhuis R, Rozemuller A, Scheper W . The pre-eclampsia gene STOX1 controls a conserved pathway in placenta and brain upregulated in late-onset Alzheimer's disease. J Alzheimers Dis. 2010; 19(2):673-9. DOI: 10.3233/JAD-2010-1265. View

18.

Collinot H, Marchiol C, Lagoutte I, Lager F, Siauve N, Autret G . Preeclampsia induced by STOX1 overexpression in mice induces intrauterine growth restriction, abnormal ultrasonography and BOLD MRI signatures. J Hypertens. 2018; 36(6):1399-1406. DOI: 10.1097/HJH.0000000000001695. View

19.

Zhang Y, Sun Z, Liu J, Guo X . Advances in susceptibility genetics of intervertebral degenerative disc disease. Int J Biol Sci. 2008; 4(5):283-90. PMC: 2532796. DOI: 10.7150/ijbs.4.283. View

20.

Battie M, Videman T, Levalahti E, Gill K, Kaprio J . Heritability of low back pain and the role of disc degeneration. Pain. 2007; 131(3):272-280. DOI: 10.1016/j.pain.2007.01.010. View