Volume 43 Issue 11
Nov.  2022
Turn off MathJax
Article Contents
Abstract
References
Relative Articles
Article Navigation >  Journal of Kunming Medical University  > 2022  >  43(11): 156-164
Yunxin ZHAO, Fanyuan MENG, Wei LIU, Huidong WU, Changliang LUO, Bin LI, Lijuan AO, Moxian CHEN. Research Progress of Single Nucleotide Polymorphism and Adolescent Idiopathic Scoliosis[J]. Journal of Kunming Medical University, 2022, 43(11): 156-164. doi: 10.12259/j.issn.2095-610X.S20221121
Citation: Yunxin ZHAO, Fanyuan MENG, Wei LIU, Huidong WU, Changliang LUO, Bin LI, Lijuan AO, Moxian CHEN. Research Progress of Single Nucleotide Polymorphism and Adolescent Idiopathic Scoliosis[J]. Journal of Kunming Medical University, 2022, 43(11): 156-164. doi: 10.12259/j.issn.2095-610X.S20221121
shu

Research Progress of Single Nucleotide Polymorphism and Adolescent Idiopathic Scoliosis

doi: 10.12259/j.issn.2095-610X.S20221121
  • 1.

    School of Rehabilitation，Kunming Medical University，Kunming Yunnan 650500

  • 2.

    Dept. of Children’s Health，Kaiyuan People’s Hospital，Kaiyuan Yunnan 661600，China

  • Received Date: 2022-01-24
  • Publish Date: 2022-11-25
    Abstract
  • The incidence of adolescent idiopathic scoliosis （AIS） worldwide is 1%～3%, the base of the diseased population is large, and it causes both physical and psychological pains to patients. Numerous studies have shown that genetic factors may play an important role in the occurrence and development of AIS. The correlation between single nucleotide polymorphisms （SNPs） and AIS is the focus of medical molecular research in recent years. In-depth research on the SNPs of susceptibility genes will help to explore new strategies for the prevention, diagnosis and treatment of AIS. This article reviews the research advances concerning gene SNPs and AIS susceptibility.
    • FullText(HTML)
    • References(49)
  • [1]
    Menger R P, Sin A H. Adolescent and idiopathic scoliosis [M]. Treasure Island （FL）: StatPearls, 2021: 29763083.
    [2]
    Essex R,Bruce G,Dibley M,et al. A systematic scoping review and textual narrative synthesis of long-term health-related quality of life outcomes for adolescent idiopathic scoliosis[J]. International Journal of Orthopaedic and Trauma Nursing,2021,40(3):100844.
    [3]
    Zamborsk R,Liščák B,Trepáč M,et al. Adolescent idiopathic scoliosis - future molecular-based diagnostic and prognostic testing[J]. Ortop Traumatol Rehabil,2019,21(4):253-260. doi: 10.5604/01.3001.0013.5070
    [4]
    Mukhtar M,Sargazi S,Barani M,et al. Application of nanotechnology for sensitive detection of low-abundance single-nucleotide variations in genomic DNA:A review[J]. Nanomaterials (Basel),2021,11(6):1384. doi: 10.3390/nano11061384
    [5]
    Zhao L,Roffey D M,Chen S. Association between the estrogen receptor beta (ESR2) rs1256120 single nucleotide polymorphism and adolescent idiopathic scoliosis:A systematic review and meta-analysis[J]. Spine,2017,42(11):871-878. doi: 10.1097/BRS.0000000000001932
    [6]
    Janusz P,Kotwicki T,Andrusiewicz M,et al. XbaI and PvuII polymorphisms of estrogen receptor 1 gene in females with idiopathic scoliosis:No association with occurrence or clinical form[J]. PLoS One,2013,8(10):e76806. doi: 10.1371/journal.pone.0076806
    [7]
    Takahashi Y,Matsumoto M,Karasugi T,et al. Replication study of the association between adolescent idiopathic scoliosis and two estrogen receptor genes[J]. J Orthop Res,2011,29(6):834-837. doi: 10.1002/jor.21322
    [8]
    Sobhan M R,Mahdinezhad-Yazdi M,Dastgheib S A,et al. Association of ESRα XbaI A  >  G,ESRα PvuII T  >  C and ESRβ AlwNI T  >  C Polymorphisms with the risk of developing adolescent idiopathic scoliosis:A systematic review and genetic meta-analysis[J]. Revista Brasileira de Ortopedia,2020,55(1):8-16. doi: 10.1016/j.rboe.2018.03.001
    [9]
    高军胜,张陆,刘志昂,等. IL-6基因多态性与青少年特发性脊柱侧凸易感性及支具矫形疗效的相关性研究[J]. 中国修复重建外科杂志,2018,32(6):678-684. doi: 10.7507/1002-1892.201710054
    [10]
    Murakami M,Nishimoto N. IL-6 inhibitors prevent bone loss and cartilage degeneration in rheumatoid arthritis[J]. Clin Calcium,2015,25(12):1851-1857.
    [11]
    Teles Filho R V,Abe G D M,Daher M T. Genetic Influence in disc degeneration - systematic review of literature[J]. Revista Brasileira de Ortopedia,2020,55(2):131-138. doi: 10.1055/s-0039-1692626
    [12]
    Dai Z,Wang Y,Wu Z,et al. Female-specific susceptibility locus in BOC and SEC16B are associated with adolescent idiopathic scoliosis[J]. Spine (Phila Pa,1976),2021,46(22):e1178-e1184.
    [13]
    Sui W,Yang J,Huang Z,et al. Polymorphisms in promoter regions of MMP-3 and IL-6 genes are not associated to adolescent idiopathic scoliosis (AIS) gender bias[J]. Journal of Back and Musculoskeletal Rehabilitation,2017,30(3):559-563. doi: 10.3233/BMR-150309
    [14]
    Mórocz M,Czibula A,Grózer Z B,et al. Association study of BMP4,IL6,Leptin,MMP3,and MTNR1B gene promoter polymorphisms and adolescent idiopathic scoliosis[J]. Spine (Phila Pa,1976),2011,36(2):E123-E130.
    [15]
    Aulisa L,Papaleo P,Pola E,et al. Association between IL-6 and MMP-3 gene polymorphisms and adolescent idiopathic scoliosis:A case-control study[J]. Spine (Phila Pa,1976),2007,32(24):2700-2702.
    [16]
    Sobhan M R,Mahdinezhad-Yazdi M,Dastgheib S A,et al. Association of the IL-6 -174G  >  C (rs1800795) polymorphism with adolescent idiopathic scoliosis:Evidence from a case-control study and meta-analysis[J]. Revista Brasileira De Ortopedia,2020,55(1):17-26. doi: 10.1055/s-0039-1700813
    [17]
    周传坤,高书涛,王鹏,等. MMP-3 rs3025058和IL-6 rs1800795单核苷酸多态性与特发性脊柱侧凸相关性的Meta分析[J]. 中国脊柱脊髓杂志,2018,28(3):219-227. doi: 10.3969/j.issn.1004-406X.2018.03.05
    [18]
    Luo M,Zhang Y,Huang S,et al. The susceptibility and potential functions of the LBX1 gene in adolescent idiopathic scoliosis[J]. Front Genet,2020,11(1):614984.
    [19]
    Kou I,Takahashi Y,Johnson T A,et al. Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis[J]. Nat Genet,2013,45(6):676-679. doi: 10.1038/ng.2639
    [20]
    Zhao J,Li M,Bradfield J P,et al. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature[J]. BMC Med Genet,2010,11(6):96.
    [21]
    Lettre G,Jackson A U,Gieger C,et al. Identification of ten loci associated with height highlights new biological pathways in human growth[J]. Nat Genet,2008,40(5):584-591. doi: 10.1038/ng.125
    [22]
    Li Y L, Gao S J, Xu H, et al. The association of rs11190870 near LBX1 with the susceptibility and severity of AIS, a meta-analysis [J]. Int J Surg, 2018, 54（Pt A）: 193-200.
    [23]
    Man G C,Tang N L,Chan T F,et al. Replication study for the association of GWAS-associated loci with adolescent idiopathic scoliosis susceptibility and curve progression in a chinese population[J]. Spine (Phila Pa,1976),2019,44(7):464-471.
    [24]
    Liu S,Wu N,Zuo Y,et al. Genetic polymorphism of LBX1 is associated with adolescent idiopathic scoliosis in northern chinese Han population[J]. Spine (Phila Pa,1976),2017,42(15):1125-1129.
    [25]
    Grauers A,Wang J,Einarsdottir E,et al. Candidate gene analysis and exome sequencing confirm LBX1 as a susceptibility gene for idiopathic scoliosis[J]. Spine J,2015,15(10):2239-2246. doi: 10.1016/j.spinee.2015.05.013
    [26]
    Nada D,Julien C,Samuels M E,et al. A replication study for association of LBX1 locus with adolescent idiopathic scoliosis in French-Canadian population[J]. Spine (Phila Pa,1976),2018,43(3):172-178.
    [27]
    Chettier R,Nelson L,Ogilvie J W,et al. Haplotypes at LBX1 have distinct inheritance patterns with opposite effects in adolescent idiopathic scoliosis[J]. PLoS One,2015,10(2):e0117708. doi: 10.1371/journal.pone.0117708
    [28]
    Kou I,Watanabe K,Takahashi Y,et al. A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis[J]. Sci Rep,2018,8(1):11575. doi: 10.1038/s41598-018-29011-7
    [29]
    Londono D,Kou I,Johnson T A,et al. A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups[J]. J Med Genet,2014,51(6):401-406. doi: 10.1136/jmedgenet-2013-102067
    [30]
    Jiang H,Yang Q,Liu Y,et al. Association between ladybird homeobox 1 gene polymorphisms and adolescent idiopathic scoliosis:A moose-compliant meta-analysis[J]. Medicine (Baltimore),2019,98(27):e16314.
    [31]
    Kruse L M,Buchan J G,Gurnett C A,et al. Polygenic threshold model with sex dimorphism in adolescent idiopathic scoliosis:The carter effect[J]. J Bone Joint Surg Am,2012,94(16):1485-1491. doi: 10.2106/JBJS.K.01450
    [32]
    Regitz-Zagrosek V,Kararigas G. Mechanistic pathways of sex differences in cardiovascular disease[J]. Physiol Rev,2017,97(1):1-37. doi: 10.1152/physrev.00021.2015
    [33]
    Chowdhury N U,Guntur V P,Newcomb D C,et al. Sex and gender in asthma[J]. Eur Respir Rev,2021,30(162):210067. doi: 10.1183/16000617.0067-2021
    [34]
    Nebel R A,Aggarwal N T,Barnes L L,et al. Understanding the impact of sex and gender in Alzheimer's disease:A call to action[J]. Alzheimers Dement,2018,14(9):1171-1183. doi: 10.1016/j.jalz.2018.04.008
    [35]
    Sharma S,Londono D,Eckalbar W L,et al. A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females[J]. Nature Communications,2015,6(1):6452. doi: 10.1038/ncomms7452
    [36]
    Sizar O, Khare S, Goyal A, et al. Vitamin D Deficiency [M]. Treasure Island （FL）: StatPearls, 2021: 30335299.
    [37]
    Schwenk R W,Vogel H,Schürmann A. Genetic and epigenetic control of metabolic health[J]. Mol Metab,2013,2(4):337-347. doi: 10.1016/j.molmet.2013.09.002
    [38]
    Sivakamasundari V,Kraus P,Sun W,et al. A developmental transcriptomic analysis of PAX1 and PAX9 in embryonic intervertebral disc development[J]. Biol Open,2017,6(2):187-199.
    [39]
    Xu L,Sheng F,Xia C,et al. Genetic variant of PAX1 gene is functionally associated with adolescent idiopathic scoliosis in the Chinese population[J]. Spine,2018,43(7):492-496. doi: 10.1097/BRS.0000000000002475
    [40]
    Liu G,Liu S,Li X,et al. Genetic polymorphisms of PAX1 are functionally associated with different PUMC types of adolescent idiopathic scoliosis in a northern Chinese Han population[J]. Gene,2019,688(3):215-220.
    [41]
    Kou I,Otomo N,Takeda K,et al. Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese[J]. Nature Communications,2019,10(1):3685-3685. doi: 10.1038/s41467-019-11596-w
    [42]
    Yin X,Cheng H,Lin Y,et al. A weighted polygenic risk score using 14 known susceptibility variants to estimate risk and age onset of psoriasis in Han Chinese[J]. PLoS One,2015,10(5):e0125369. doi: 10.1371/journal.pone.0125369
    [43]
    Sabik O L,Farber C R. Using GWAS to identify novel therapeutic targets for osteoporosis[J]. Transl Res,2017,181(5):15-26.
    [44]
    Zhang F R,Liu H,Irwanto A,et al. HLA-B*13:01 and the dapsone hypersensitivity syndrome[J]. N Engl J Med,2013,369(17):1620-1628. doi: 10.1056/NEJMoa1213096
    [45]
    Ma X,Yang W,Gao Y,et al. Genetic origins and sex-biased admixture of the huis[J]. Mol Biol Evol,2021,38(9):3804-3819. doi: 10.1093/molbev/msab158
    [46]
    杨昭庆,禇嘉祐. 中国人类遗传多样性研究进展[J]. 遗传,2012,34(11):1351-1364.
    [47]
    Li Y H,Luo J Y,Fang B B,et al. Association between CCN1 gene polymorphism and acute coronary syndrome in Chinese Han and Uygur populations[J]. Hereditas,2021,158(1):16. doi: 10.1186/s41065-021-00180-2
    [48]
    Wang T,Sun L,Xu L,et al. Prevalence of dyslipidemia and gene polymorphisms of ABCB1 and SLCO1B1 in Han,Uygur,Kazak,Hui,Tatar,Kirgiz,and Sibe populations with coronary heart disease in Xinjiang,China[J]. Lipids Health Dis,2021,20(1):116. doi: 10.1186/s12944-021-01544-3
    [49]
    Peng Y,Wang S R,Qiu G X,et al. Research progress on the etiology and pathogenesis of adolescent idiopathic scoliosis[J]. Chin Med J (Engl),2020,133(4):483-493. doi: 10.1097/CM9.0000000000000652
    • Relative Articles(20)

  • Relative Articles

    [1] Ziwen YIN, Lei WANG, huidong WU, Kehong ZHAO, Yanyang WANG, Xiaomei LIU, Yonghong YANG. Caregiver Burden Characteristics and Influencing Factors in Conservative Treatment of Adolescent Idiopathic Scoliosis. Journal of Kunming Medical University, 2023, 44(4): 69-74.  doi: 10.12259/j.issn.2095-610X.S20230413
    [2] Yunxin ZHAO, Fanyuan MENG, Zhi ZHAO, Luming LI, Lijuan AO, Moxian CHEN. Factors Affecting the Quality of Life in Adolescent Scoliosis. Journal of Kunming Medical University, 2022, 43(5): 50-57.  doi: 10.12259/j.issn.2095-610X.S20220522
    [3] Boyi LI, Ling NIU, Rong MA, Xian ZHANG, Fang LIU, Yan TANG, Cuijuan MIAO, Cheng ZHANG, Zhujun HAN. The Relationship Between T950C Polymorphism in the Promoter Region of Osteoprotegerin Gene and Type 2 Diabetes with Osteoporosis. Journal of Kunming Medical University, 2022, 43(3): 67-73.  doi: 10.12259/j.issn.2095-610X.S20220306
    [4] Xu Hai Xia , Li Xin Hong . . Journal of Kunming Medical University, 2020, 41(06): 132-135.
    [5] Zhang Jin Yu , Peng Zhuo Hui . Relationship between Single Nucleotide Polymorphisms of ERCC Gene and Survival of Osteosarcoma. Journal of Kunming Medical University, 2017, 38(09): 59-65.
    [6] Nian Xin . Difference of Metallothionein Gene G-201A Polymorphism in Type 2 Diabetes and Essential Hypertension. Journal of Kunming Medical University,
    [7] Li Ying Fu . . Journal of Kunming Medical University,
    [8] Li Hui Fang . . Journal of Kunming Medical University,
    [9] An Xin Huan . . Journal of Kunming Medical University,
    [10] Lan Dan Feng . . Journal of Kunming Medical University,
    [11] Deng De Yao . . Journal of Kunming Medical University,
    [12] Yan Zhi Ling . . Journal of Kunming Medical University,
    [13] Li Ying Fu . . Journal of Kunming Medical University,
    [14] Sun Jian Wei . . Journal of Kunming Medical University,
    [15] Chen Can . . Journal of Kunming Medical University,
    [16] Liu Mei . Analysis on Genetic Characteristics of the Nonstructural Protein NSP4 of Human Rotavirus Strains in Infants with Diarrher in 2007 and 2008 in Kunming. Journal of Kunming Medical University,
    [17] Ren Yan Xin . . Journal of Kunming Medical University,
    [18] Nian Xin . The Preliminary Analysis of the FOXC2 C-1702T Polymorphism is Associated with Cholesterol. Journal of Kunming Medical University, 2012, 33(02): 1-1.
    [19] He Bao Li . . Journal of Kunming Medical University,
    [20] Li Hui Fang . . Journal of Kunming Medical University,
    • Supplements(0)
    • Cited By

  • Cited by

    Periodical cited type(5)

    1. 曾洲榆，官燕飞，倪文鹏，柯家龙，张炽伦. 呼吸道腺病毒感染儿童血清PCT、SAA、25(OH)D的检测及临床意义. 检验医学与临床. 2022(03): 408-410 .
    2. 李心怡，袁勇，付燕，朱燕. 不同年龄段妊娠早期妇女维生素D含量水平分布. 昆明医科大学学报. 2022(04): 137-141 . 本站查看
    3. 袁勇，李心怡，付燕，朱燕. 昆明地区妊娠期妇女、婴幼儿维生素D水平分析及妊娠期空腹血糖水平与维生素D水平的关联性. 昆明医科大学学报. 2022(09): 125-129 . 本站查看
    4. 张国栋，云莎，白玉新内蒙古自治区人民医院血液科，朱华，梁妍琰，江琰. 反复呼吸道感染患儿免疫功能与维生素缺乏的相关性研究. 解放军预防医学杂志. 2020(06): 67-69 .
    5. 李艳红，张娴，李燕，赵梦茹，赵琳，李琳霞. 云南省4个少数民族贫困地区6～23月龄婴幼儿维生素D水平及影响因素. 中华疾病控制杂志. 2019(10): 1224-1229 .

    Other cited types(2)

  • 加载中
    Created with Highcharts 5.0.7Chart context menuAccess Class DistributionFULLTEXT: 35.1 %FULLTEXT: 35.1 %META: 64.7 %META: 64.7 %PDF: 0.2 %PDF: 0.2 %FULLTEXTMETAPDF
    Created with Highcharts 5.0.7Chart context menuAccess Area Distribution其他: 4.6 %其他: 4.6 %其他: 0.0 %其他: 0.0 %China: 4.5 %China: 4.5 %Perth Amboy: 0.0 %Perth Amboy: 0.0 %上海: 7.6 %上海: 7.6 %东莞: 0.0 %东莞: 0.0 %九江: 0.0 %九江: 0.0 %亳州: 0.0 %亳州: 0.0 %保定: 0.0 %保定: 0.0 %内华达: 0.0 %内华达: 0.0 %北京: 20.9 %北京: 20.9 %十堰: 0.0 %十堰: 0.0 %南京: 0.0 %南京: 0.0 %南通: 0.0 %南通: 0.0 %合肥: 0.0 %合肥: 0.0 %呼和浩特: 0.0 %呼和浩特: 0.0 %和田: 0.0 %和田: 0.0 %咸阳: 0.0 %咸阳: 0.0 %哈尔滨: 0.0 %哈尔滨: 0.0 %哥伦布: 0.0 %哥伦布: 0.0 %嘉兴: 0.0 %嘉兴: 0.0 %大理: 0.0 %大理: 0.0 %天津: 0.1 %天津: 0.1 %安那罕: 0.0 %安那罕: 0.0 %宣城: 0.0 %宣城: 0.0 %密蘇里城: 0.0 %密蘇里城: 0.0 %常州: 0.1 %常州: 0.1 %张家口: 0.3 %张家口: 0.3 %扬州: 0.1 %扬州: 0.1 %无锡: 0.0 %无锡: 0.0 %昆明: 0.6 %昆明: 0.6 %晋城: 0.0 %晋城: 0.0 %杭州: 0.1 %杭州: 0.1 %武威: 0.0 %武威: 0.0 %武汉: 0.0 %武汉: 0.0 %沈阳: 0.0 %沈阳: 0.0 %泰安: 0.0 %泰安: 0.0 %洛阳: 0.0 %洛阳: 0.0 %淮南: 0.0 %淮南: 0.0 %温州: 0.0 %温州: 0.0 %湖州: 0.0 %湖州: 0.0 %湛江: 0.0 %湛江: 0.0 %漯河: 0.1 %漯河: 0.1 %石家庄: 0.1 %石家庄: 0.1 %福州: 0.0 %福州: 0.0 %绍兴: 0.0 %绍兴: 0.0 %芒廷维尤: 1.8 %芒廷维尤: 1.8 %芝加哥: 0.2 %芝加哥: 0.2 %苏州: 0.0 %苏州: 0.0 %茂名: 0.0 %茂名: 0.0 %西宁: 0.8 %西宁: 0.8 %许昌: 0.0 %许昌: 0.0 %贵阳: 0.0 %贵阳: 0.0 %赤峰: 0.0 %赤峰: 0.0 %运城: 0.1 %运城: 0.1 %连云港: 0.0 %连云港: 0.0 %遵义: 0.0 %遵义: 0.0 %邯郸: 0.0 %邯郸: 0.0 %郑州: 0.0 %郑州: 0.0 %长沙: 0.1 %长沙: 0.1 %青岛: 0.0 %青岛: 0.0 %马赛: 0.0 %马赛: 0.0 %驻马店: 56.9 %驻马店: 56.9 %其他其他ChinaPerth Amboy上海东莞九江亳州保定内华达北京十堰南京南通合肥呼和浩特和田咸阳哈尔滨哥伦布嘉兴大理天津安那罕宣城密蘇里城常州张家口扬州无锡昆明晋城杭州武威武汉沈阳泰安洛阳淮南温州湖州湛江漯河石家庄福州绍兴芒廷维尤芝加哥苏州茂名西宁许昌贵阳赤峰运城连云港遵义邯郸郑州长沙青岛马赛驻马店

Catalog

    通讯作者: 陈斌, bchen63@163.com
    • 1. 

      沈阳化工大学材料科学与工程学院 沈阳 110142

    1. 本站搜索
    2. 百度学术搜索
    3. 万方数据库搜索
    4. CNKI搜索

    Tables(4)

    Get Citation
    PDF
    XML

    Article Metrics

    Article views (4185) PDF downloads(30) Cited by(7)
    Proportional views
    Related

    Copyright © 《昆明医科大学学报》编辑部  滇ICP备00000000号-0

    Publishing: 昆明医科大学学报编辑部

    Supported by: Beijing Renhe Information Technology Co. Ltd    

    /

    DownLoad:  Full-Size Img  PowerPoint
    Return
    Return