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Table 1 Primary author, year of publication, country, type of study, level of evidence (LOE), diagnosis method, age of IS on-set and associated pathology of the included studies

From: Exploring the association between specific genes and the onset of idiopathic scoliosis: a systematic review

Author, year Country Type of study, level of evidence DNA extraction protocol Age of IS onset Associated pathology
     Early Onset Late Onset  
Alden, 2006 USA Cohort study, Level 3 Standard Purification Protocols    
Borysiak, 2020 Poland Cohort study, Level 3 AxyPrep Blood Genomic DNA Miniprep Kit    
Buchan, July 2014 USA Case–control cohort study, Level 3 Isolation Kit for Mammalian Blood or Oragene1 Purifier   x Trisomy X, 1.8% (2/114)
Buchan, May 2014 USA, China Case–control cohort study, Level 3 Genome Analyzer IIx or HiSeq 2000 sequencer SureSelect Human All Exon 38 Mb and 50 Mb kits or TruSeq Exome Enrichment kit   x Marfan Syndrome
Kotwicki, 2014 Poland Case–control study, Level 3 PCR restriction fragment length polymorphism (PCR–RFLP)    
Kou, 2019 Japan Cohort study, Level 3   x   
Liu, 2017 China Case–control association study, Level 3 Sequenom MassARRAY SNP genotyping platform    
Moon, 2013 South Korea Case–control study, level 3 Single base primer extension assay   x  
Nikolova, 2016 Bulgaria, Japan Case–control study, Level 3 PCR 1–3 years of age (4) 3–9 years of age (23), 10–16 years of age (78)  
Ogura, 2013 Japan Retrospective cohort study, Level 3 Invaer Assay    
Sadler, 2019 USA Cohort study, Level 3 IDT xGen Exome Panel V1 capture on Illumina HiSeq 4000 paired-end reads x x  
Sharma, 2011 USA Case–control cohort study, Level 3 Genotyped on Illumina Human CNV370-Quad arrays    
Takahashi, 2018 Japan Case–control study, Level 3 PCR-based Invader assay   x  
Takeda, 2017 Japan Case–control study, Level 3 TaqMan real-time quantitative PCR, Microsatellite analysis, Sanger sequencing    Vertebral malformations
Wang, 2008 China Cohort study, Level 3 PCR x x  
Wang, 2020 China Cross-sectional study, Level 4 Whole-exome sequencing   x  
Wu, 2006 China Case–control study, level 3 PCR, Electrophoresis    
Xu, 2015 China Retrospective case control study, Level 3 TaqMan SNP Genotyping Assay   x  
Xu, 2020 China Case–control association study, Level 3 Genome DNA Extraction with QIAGEN kit, Sanger Sequencing (10%), Exon Sequencing (192)    
Yilmaz, 2012 Turkey Case–control study, level 3 RT-PCR    
Zhao, 2009 China Case–control study, Level 3 QIAamp DNA Blood Mini kit   x  
Zhao, 2020 China Cohort study, Level 3   x   
Zhou, 2012 China Case–control study, Level 3 PCR restriction fragment length polymorphism (PCR–RFLP)   x  
Zhu, 2014 China Case–control association study, Level 3     
  1. PCR Polymerase Chain Reaction, Dup Duplication, Del Deletion, RT-PCR real-time polymerase chain reaction
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BMC Medical Genomics

ISSN: 1755-8794

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