Genetic basis of rotator cuff injury: a systematic review.
Cadherins
/ genetics
Databases, Factual
Fibroblast Growth Factor 10
/ genetics
Genetic Variation
Genome-Wide Association Study
Humans
Matrix Metalloproteinase 1
/ genetics
Nuclear Proteins
/ genetics
Polymorphism, Single Nucleotide
Receptor, Fibroblast Growth Factor, Type 1
/ genetics
Receptor, Fibroblast Growth Factor, Type 3
/ genetics
Receptors, Estrogen
/ genetics
Receptors, Immunologic
/ genetics
Rotator Cuff
Rotator Cuff Injuries
/ genetics
Tenascin
/ genetics
Transcription Factors
/ genetics
Tumor Suppressor Proteins
/ genetics
beta-Defensins
/ genetics
Gene
Genetic
Predisposition
Rotator cuff
Shoulder
Journal
BMC medical genetics
ISSN: 1471-2350
Titre abrégé: BMC Med Genet
Pays: England
ID NLM: 100968552
Informations de publication
Date de publication:
02 09 2019
02 09 2019
Historique:
received:
10
02
2019
accepted:
26
08
2019
entrez:
4
9
2019
pubmed:
4
9
2019
medline:
4
12
2019
Statut:
epublish
Résumé
Rotator cuff disease is a widespread musculoskeletal pathology and a major cause of shoulder pain. Studies on familial predisposition suggest that genetic plays a role in the pathogenesis of rotator cuff disease. Several genes are responsible for rotator cuff disease. The aim of this study was to perform a systematic review on genetic association between rotator cuff disease and genes variations. A systematic review of the literature was performed, in accordance with the PRISMA guidelines. PubMed, Medline, CINAHL, Cochrane, Embase and Google Scholar databases were searched comprehensively using the keywords: "Rotator cuff", "Gene", "Genetic", "Predisposition", "Single-nucleotide polymorphism" and "Genome-wide association". 8 studies investigating genes variations associated with rotator cuff tears were included in this review. 6 studies were case-control studies on candidate genes and 2 studies were GWASs. A significant association between SNPs and rotator cuff disease was found for DEFB1, FGFR1, FGFR3, ESRRB, FGF10, MMP-1, TNC, FCRL3, SASH1, SAP30BP, rs71404070 located next to cadherin8. Contradictory results were reported for MMP-3. Further investigations are warranted to identify complete genetic profiles of rotator cuff disease and to clarify the complex interaction between genes, encoded proteins and environment. This may lead to individualized strategies for prevention and treatment of rotator cuff disease. Level IV, Systematic Review.
Sections du résumé
BACKGROUND
Rotator cuff disease is a widespread musculoskeletal pathology and a major cause of shoulder pain. Studies on familial predisposition suggest that genetic plays a role in the pathogenesis of rotator cuff disease. Several genes are responsible for rotator cuff disease. The aim of this study was to perform a systematic review on genetic association between rotator cuff disease and genes variations.
METHODS
A systematic review of the literature was performed, in accordance with the PRISMA guidelines. PubMed, Medline, CINAHL, Cochrane, Embase and Google Scholar databases were searched comprehensively using the keywords: "Rotator cuff", "Gene", "Genetic", "Predisposition", "Single-nucleotide polymorphism" and "Genome-wide association".
RESULTS
8 studies investigating genes variations associated with rotator cuff tears were included in this review. 6 studies were case-control studies on candidate genes and 2 studies were GWASs. A significant association between SNPs and rotator cuff disease was found for DEFB1, FGFR1, FGFR3, ESRRB, FGF10, MMP-1, TNC, FCRL3, SASH1, SAP30BP, rs71404070 located next to cadherin8. Contradictory results were reported for MMP-3.
CONCLUSION
Further investigations are warranted to identify complete genetic profiles of rotator cuff disease and to clarify the complex interaction between genes, encoded proteins and environment. This may lead to individualized strategies for prevention and treatment of rotator cuff disease.
LEVEL OF EVIDENCE
Level IV, Systematic Review.
Identifiants
pubmed: 31477042
doi: 10.1186/s12881-019-0883-y
pii: 10.1186/s12881-019-0883-y
pmc: PMC6720871
doi:
Substances chimiques
CDH8 protein, human
0
Cadherins
0
DEFB1 protein, human
0
ESRRB protein, human
0
FCRL3 protein, human
0
FGF10 protein, human
0
Fibroblast Growth Factor 10
0
Nuclear Proteins
0
Receptors, Estrogen
0
Receptors, Immunologic
0
SAP30BP protein, human
0
SASH1 protein, human
0
TNC protein, human
0
Tenascin
0
Transcription Factors
0
Tumor Suppressor Proteins
0
beta-Defensins
0
FGFR1 protein, human
EC 2.7.10.1
FGFR3 protein, human
EC 2.7.10.1
Receptor, Fibroblast Growth Factor, Type 1
EC 2.7.10.1
Receptor, Fibroblast Growth Factor, Type 3
EC 2.7.10.1
MMP1 protein, human
EC 3.4.24.7
Matrix Metalloproteinase 1
EC 3.4.24.7
Types de publication
Journal Article
Meta-Analysis
Systematic Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
149Références
BMC Med Genet. 2018 Dec 20;19(1):217
pubmed: 30572822
J Shoulder Elbow Surg. 2014 Feb;23(2):227-35
pubmed: 24129055
Sports Med Arthrosc Rev. 2009 Jun;17(2):127-38
pubmed: 19440140
Med Sport Sci. 2012;57:1-9
pubmed: 21986040
Ann Rheum Dis. 2012 Feb;71(2):302-10
pubmed: 21972243
J Bone Joint Surg Br. 2009 Jul;91(7):915-7
pubmed: 19567856
J Shoulder Elbow Surg. 2015 Feb;24(2):e31-5
pubmed: 25219474
PLoS One. 2017 Dec 11;12(12):e0189317
pubmed: 29228018
BMC Med Genet. 2018 Jul 18;19(1):119
pubmed: 30021560
J Bone Joint Surg Am. 2006 Aug;88(8):1699-704
pubmed: 16882890
Am J Sports Med. 2005 Jul;33(7):1016-21
pubmed: 15983124
Arch Orthop Trauma Surg. 2017 Feb;137(2):217-224
pubmed: 27933383
Musculoskelet Surg. 2016 Dec;100(3):193-198
pubmed: 27300507
Br J Sports Med. 2009 May;43(5):357-65
pubmed: 18443036
J Orthop Res. 2013 Apr;31(4):632-7
pubmed: 23192621
J Orthop Res. 2017 Apr;35(4):894-901
pubmed: 27248364
J Immunol. 2010 Apr 1;184(7):3639-47
pubmed: 20190142
Am J Phys Med Rehabil. 2011 Feb;90(2):119-27
pubmed: 20975526
J Shoulder Elbow Surg. 2012 Feb;21(2):200-8
pubmed: 22244063
Sports Med Arthrosc Rev. 2011 Sep;19(3):227-36
pubmed: 21822106
Knee Surg Sports Traumatol Arthrosc. 2007 Nov;15(11):1390-4
pubmed: 17721701
Best Pract Res Clin Rheumatol. 2007 Jun;21(3):535-47
pubmed: 17602998
J Immunol. 2009 Jun 15;182(12):7518-26
pubmed: 19494275
Sports Med Arthrosc Rev. 2011 Sep;19(3):184-93
pubmed: 21822100
Arthritis Res Ther. 2016 Feb 17;18:48
pubmed: 26883016
Am J Sports Med. 2010 Dec;38(12):2435-42
pubmed: 21030564
Ann Intern Med. 2001 Apr 17;134(8):663-94
pubmed: 11304107
Nucleic Acids Res. 1991 Nov 25;19(22):6249-54
pubmed: 1956785
J Orthop Res. 2013 Jul;31(7):1103-7
pubmed: 23389922
Eur J Med Genet. 2011 Nov-Dec;54(6):e535-41
pubmed: 21802533
J Shoulder Elbow Surg. 2017 Jun;26(6):1103-1112
pubmed: 28162885
Am J Sports Med. 2015 Jul;43(7):1784-9
pubmed: 25896984
Clin Orthop Relat Res. 2017 Jul;475(7):1904-1910
pubmed: 28160256
PLoS Genet. 2008 Jul 25;4(7):e1000086
pubmed: 18654615
J Shoulder Elbow Surg. 2016 Feb;25(2):174-9
pubmed: 26350878
J Bone Joint Surg Br. 2004 Jul;86(5):696-700
pubmed: 15274266
Knee Surg Sports Traumatol Arthrosc. 2010 Jul;18(7):971-6
pubmed: 19859693
Mol Cell. 2013 Nov 7;52(3):366-79
pubmed: 24207026
Best Pract Res Clin Rheumatol. 2015 Jun;29(3):405-23
pubmed: 26612238
Mol Cell Biochem. 2013 Jan;373(1-2):201-10
pubmed: 23108792
J Bone Joint Surg Am. 2009 May;91(5):1136-42
pubmed: 19411462
Hum Immunol. 2007 May;68(5):375-83
pubmed: 17462505
Knee Surg Sports Traumatol Arthrosc. 2013 Jul;21(7):1636-41
pubmed: 23052118