Association between polymorphism of aggregate protein metabolic pathway gene and severity of lumbar disc herniation

doi:10.3969/j.issn.2095-4344.1457

Abstract

Abstract:

BACKGROUND: Protrusion of intervertebral disc is a complex spinal disease, which is closely related to the degeneration of intervertebral disc. Candidate genes of aggregation proteoglycan metabolic pathway may be related to the severity of protrusion of lumbar intervertebral disc.
OBJECTIVE: To assess the association between single nucleotide variants and proteoglycan metabolic pathways in the severity of lumbar disc herniation in patients with chronic mechanical low back pain.
METHODS: Sixty patients were classified and described. T2-weighted median sagittal lumbar MRI scans were used to assess the severity of disc herniation and degeneration. Single nucleotide variants genotyping of 20 exons of two candidate genes (proteoglycan, matrix metalloproteinase 3) of lectin metabolic pathway was performed. Age, sex, body mass index and the degree of intervertebral disc degeneration were analyzed by multiple linear regression. The trial was approved by the Ethics Committee of People’s Hospital of Dingzhou on March 1, 2015 (approval No. 2015002).
RESULTS AND CONCLUSION: The mutants and haplotypes of rs2272023, rs938609, rs2882676, rs698621, rs3825994, rs1042630 and rs3817428 of proteoglycan are related to the severity of lumbar disc herniation. The single nucleotide variants and its haplotype of proteoglycan are related to the severity of lumbar disc herniation. To determine the role of these important single nucleotide variants in the pathogenesis of intervertebral disc herniation, functional genetic studies are necessary.

Key words: protrusion of intervertebral disc, aggregate protein, gene polymorphism, heredity, matrix metalloproteinase, chronic mechanical low back pain, proteoglycan, genotyping

CLC Number:

Yang Jinfeng, Ma Sanhui. Association between polymorphism of aggregate protein metabolic pathway gene and severity of lumbar disc herniation [J]. Chinese Journal of Tissue Engineering Research, 2019, 23(31): 4939-4944.

Figures/Tables 4

References

[1]马信龙.腰椎间盘突出症的病理学分型及其临床意义[J].实用骨科杂志, 2016,22(4):384.

[2]Perera RS, Dissanayake PH, Senarath U, et al. Single Nucleotide Variants of Candidate Genes in Aggrecan Metabolic Pathway Are Associated with Lumbar Disc Degeneration and Modic Changes. PLoS One. 2017;12(1):e0169835.

[3]高克海,李洪涛,黄彩虹.聚集蛋白聚糖酶-1在退变椎间盘中的表达及意义[J].中国矫形外科杂志,2014,22(15):1412-1416.

[4]耿翔,吕国华.聚集蛋白聚糖基因多态性与腰椎间盘退变相关性的研究进展[J].中国脊柱脊髓杂志,2013,23(4):370-372.

[5]Cong L, Zhu Y, Pang H, et al. The interaction between aggrecan gene VNTR polymorphism and obesity in predicting incident symptomatic lumbar disc herniation. Connect Tissue Res. 2014;55(5-6):384-390.

[6]李峰,廖泉森,杨新海.MMP3与腰椎间盘突出症间盘突出程度的相关性研究[J].新疆医学,2010,40(2):43-46.

[7]丛琳,朱悦,屠冠军.聚集蛋白聚糖基因串联重复多态性与腰椎间盘突出症相关性研究[J].中华外科杂志,2015,53(2):116-120.

[8]蒋家耀,卢旭华. 椎间盘退变生物学治疗的研究进展[J].中国骨伤, 2016, 29(6):576-580.

[9]王毅翔,吴爱悯,Santiago FR.腰痛患者如何选择影像学检查的循证医学依据[J].重庆医学,2018,47(18):2389-2398.

[10]Omair A, Holden M, Lie BA, et al. Treatment outcome of chronic low back pain and radiographic lumbar disc degeneration are associated with inflammatory and matrix degrading gene variants: a prospective genetic association study. BMC Musculoskelet Disord. 2013;14:105.

[11]李国强.基于医学指标与体质量指数关系评价肥胖标准的方法[J].中国组织工程研究,2007,11(43):8745-8748.

[12]Lane NE, Nevitt MC, Genant HK, et al. Reliability of new indices of radiographic osteoarthritis of the hand and hip and lumbar disc degeneration. J Rheumatol. 1993;20(11):1911-1918.

[13]王蓉,杜永浩,杨健,等.腰椎间盘退变MRI分级系统的一致性评价[J].实用放射学杂志,2016,32(11):1740-1744.

[14]杨占辉,孙建华,丁浩.腰椎间盘突出症的评分法疗效评定标准[J].颈腰痛杂志,1999(1):20-21.

[15]孙博.非同义突变对蛋白质翻译后修饰的影响及其在人类疾病中的意义[D].上海:上海交通大学,2015.

[16]Katsonis P, Koire A, Wilson SJ, et al. Single nucleotide variations: biological impact and theoretical interpretation. Protein Sci. 2014; 23(12):1650-1666.

[17]耿翔.人聚蛋白聚糖基因多态性与腰椎间盘退变性疾病的相关性[D].长沙:中南大学,2013.

[18]薛静波,王文军,晏怡果,等.骨保护素基因多态性与椎间盘退变的相关性研究[J].中国骨科临床与基础研究杂志, 2016,8(6):352-358.

[19]Huang X, Chen F, Zhao J, et al. Interleukin 6 (IL-6) and IL-10 Promoter Region Polymorphisms Are Associated with Risk of Lumbar Disc Herniation in a Northern Chinese Han Population. Genet Test Mol Biomarkers. 2017;21(1):17-23.

[20]Eser B, Eser O, Yuksel Y, et al. Effects of MMP-1 and MMP-3 gene polymorphisms on gene expression and protein level in lumbar disc herniation. Genet Mol Res. 2016;15(3).

[21]路康,杨匡,李海音,等.髓核细胞来源外泌体对骨髓间充质干细胞向髓核样细胞分化的作用[J].中国脊柱脊髓杂志, 2016,26(10):933-938.

[22]Videman T, Saarela J, Kaprio J, et al. Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing. Arthritis Rheum. 2009; 60(2):470-481.

[23]Smith LJ, Nerurkar NL, Choi KS, et al. Degeneration and regeneration of the intervertebral disc: lessons from development. Dis Model Mech. 2011;4(1):31-41.

[24]Kepler CK, Anderson DG, Tannoury C, et al. Intervertebral disk degeneration and emerging biologic treatments. J Am Acad Orthop Surg. 2011;19(9):543-553.

[25]谭平先,李健,孙筱放,等.聚集蛋白聚糖基因多态性与腰椎间盘突出症的关联性[J].中国组织工程研究,2011,15(33):6257-6261.

[26]肖飞,刘国辉.椎间盘退变的遗传学机制研究进展[J].中国矫形外科杂志, 2007,15(21):1632-1634.