Genetics and epigenetics in primary Sjögren's syndrome.
DNA methylation
GWAS
HLA
IRF5
STAT4
epigenetics
genetics
histone modification
non-coding RNA
primary Sjögren’s syndrome
Journal
Rheumatology (Oxford, England)
ISSN: 1462-0332
Titre abrégé: Rheumatology (Oxford)
Pays: England
ID NLM: 100883501
Informations de publication
Date de publication:
14 05 2021
14 05 2021
Historique:
received:
13
06
2018
revised:
16
09
2018
pubmed:
17
2
2019
medline:
30
6
2021
entrez:
17
2
2019
Statut:
ppublish
Résumé
Primary Sjögren's syndrome (pSS) is considered to be a multifactorial disease, where underlying genetic predisposition, epigenetic mechanisms and environmental factors contribute to disease development. In the last 5 years, the first genome-wide association studies in pSS have been completed. The strongest signal of association lies within the HLA genes, whereas the non-HLA genes IRF5 and STAT4 show consistent associations in multiple ethnicities but with a smaller effect size. The majority of the genetic risk variants are found at intergenic regions and their functional impact has in most cases not been elucidated. Epigenetic mechanisms such as DNA methylation, histone modifications and non-coding RNAs play a role in the pathogenesis of pSS by their modulating effects on gene expression and may constitute a dynamic link between the genome and phenotypic manifestations. This article reviews the hitherto published genetic studies and our current understanding of epigenetic mechanisms in pSS.
Identifiants
pubmed: 30770922
pii: 5321203
doi: 10.1093/rheumatology/key330
pmc: PMC8121440
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
2085-2098Subventions
Organisme : NIDCR NIH HHS
ID : R01 DE018209
Pays : United States
Informations de copyright
© The Author(s) 2020. Published by Oxford University Press on behalf of the British Society for Rheumatology.
Références
Clin Immunol. 2013 Aug;148(2):254-7
pubmed: 23773924
Autoimmun Rev. 2012 Feb;11(4):281-7
pubmed: 22001416
Clin Immunol Immunopathol. 1994 Aug;72(2):162-5
pubmed: 8050187
J Autoimmun. 2016 Apr;68:30-8
pubmed: 26725749
Eur Cytokine Netw. 2012 Oct-Dec;23(4):166-72
pubmed: 23302156
Clin Exp Immunol. 2018 Jun;192(3):259-270
pubmed: 29453859
J Rheumatol. 2005 Aug;32(8):1603-6
pubmed: 16078341
Nat Rev Mol Cell Biol. 2014 Aug;15(8):536-50
pubmed: 25053359
Genes Immun. 2009 Jan;10(1):68-76
pubmed: 19092842
Arthritis Rheumatol. 2017 Jun;69(6):1294-1305
pubmed: 28076899
Hum Mol Genet. 2017 Jul 1;26(13):2565-2576
pubmed: 28379387
Arthritis Care Res (Hoboken). 2012 Apr;64(4):475-87
pubmed: 22563590
Nat Rev Mol Cell Biol. 2015 Sep;16(9):519-32
pubmed: 26296162
Biochem Pharmacol. 2000 Oct 15;60(8):1143-51
pubmed: 11007952
Ann Rheum Dis. 2016 Apr;76(4):721-730
pubmed: 27672125
Ann Rheum Dis. 2017 Mar;76(3):625-628
pubmed: 28093418
Ann Rheum Dis. 2012 Jun;71(6):981-8
pubmed: 22294627
Rheumatology (Oxford). 2018 May 1;57(5):921-930
pubmed: 29474655
Am J Hum Genet. 2012 Apr 6;90(4):648-60
pubmed: 22464253
Ann Rheum Dis. 2003 Feb;62(2):168-71
pubmed: 12525388
Nat Genet. 2013 Nov;45(11):1361-5
pubmed: 24097066
PLoS One. 2017 Mar 24;12(3):e0174585
pubmed: 28339495
J Autoimmun. 2013 Mar;41:175-81
pubmed: 23478041
J Exp Med. 1999 Jun 7;189(11):1747-56
pubmed: 10359578
Genes Immun. 2008 Apr;9(3):267-70
pubmed: 18273036
Rheumatology (Oxford). 2008 Sep;47(9):1311-6
pubmed: 18617551
Ann Rheum Dis. 2016 Nov;75(11):2029-2036
pubmed: 26857698
Ann Rheum Dis. 2011 Jul;70(7):1327-9
pubmed: 21450750
J Rheumatol. 2010 May;37(5):1016-9
pubmed: 20360187
Biochim Biophys Acta. 2013 Jan;1829(1):84-97
pubmed: 22982198
Ann Rheum Dis. 2018 Aug;77(8):1200-1207
pubmed: 29779010
Science. 1986 May 30;232(4754):1145-7
pubmed: 3458307
Nat Rev Immunol. 2002 Jul;2(7):465-75
pubmed: 12094221
Arthritis Rheumatol. 2014 Mar;66(3):731-9
pubmed: 24574234
Immunol Rev. 2004 Dec;202:139-56
pubmed: 15546391
Arthritis Rheumatol. 2017 Nov;69(11):2187-2192
pubmed: 28692793
Scand J Immunol. 2010 Apr;71(4):227-31
pubmed: 20384865
J Immunol. 1993 Apr 15;150(8 Pt 1):3615-23
pubmed: 8468491
Clin Immunol. 2016 Jul;168:25-29
pubmed: 27109640
Nature. 2005 Mar 10;434(7030):243-9
pubmed: 15665823
Hum Mol Genet. 2015 Jan 15;24(2):582-96
pubmed: 25205108
PLoS One. 2018 Feb 15;13(2):e0193157
pubmed: 29447268
Nature. 2011 Aug 10;476(7359):214-9
pubmed: 21833088
Arthritis Rheum. 2004 Feb;50(2):570-80
pubmed: 14872501
Ann Rheum Dis. 2013 May;72(5):728-35
pubmed: 22736090
Rheum Dis Clin North Am. 2008 Nov;34(4):847-68, vii
pubmed: 18984408
Nat Genet. 2013 Nov;45(11):1284-92
pubmed: 24097067
PLoS Genet. 2017 Jun 22;13(6):e1006820
pubmed: 28640813
Scand J Immunol. 2013 Nov;78(5):447-54
pubmed: 23944604
Arthritis Rheumatol. 2016 Nov;68(11):2686-2696
pubmed: 27338297
PLoS One. 2017 May 26;12(5):e0177320
pubmed: 28552951
Arthritis Rheumatol. 2016 May;68(5):1290-1300
pubmed: 26713507
Nat Genet. 2017 Mar;49(3):433-437
pubmed: 28135245
Genes Immun. 2010 Jul;11(5):432-8
pubmed: 20535138
Genes Immun. 2005 Oct;6(7):628-31
pubmed: 16163373
Ann Rheum Dis. 2016 May;75(5):933-40
pubmed: 26183421
Nat Rev Rheumatol. 2017 Oct;13(10):593-605
pubmed: 28905855
Blood. 2013 Dec 12;122(25):4068-76
pubmed: 24159176
J Oral Pathol Med. 2014 Nov;43(10):792-7
pubmed: 24931100
Rheumatology (Oxford). 2016 Jun;55(6):1074-82
pubmed: 26966136
Hum Genet. 2016 Nov;135(11):1287-1294
pubmed: 27503288
J Rheumatol. 2014 Nov;41(11):2208-13
pubmed: 25128511
Genomics. 2011 Oct;98(4):288-95
pubmed: 21839163
J Dermatol Sci. 2010 Sep;59(3):198-203
pubmed: 20724115
Genes Immun. 2011 Mar;12(2):100-9
pubmed: 20861858
Arthritis Rheumatol. 2015 Oct;67(10):2732-41
pubmed: 26097183
Eur J Immunol. 2011 Jul;41(7):2029-39
pubmed: 21469088
Arthritis Rheum. 2011 Apr;63(4):1106-15
pubmed: 21305504
Clin Exp Immunol. 2018 Aug;193(2):167-177
pubmed: 29663334
Exp Ther Med. 2018 Jan;15(1):426-432
pubmed: 29387196
J Hum Genet. 2013 Jul;58(7):475-9
pubmed: 23635951
J Rheumatol. 2000 Sep;27(9):2264-6
pubmed: 10990245
Nat Genet. 2011 Mar;43(3):253-8
pubmed: 21336280
Arthritis Rheum. 2003 Aug;48(8):2240-5
pubmed: 12905478
Lupus. 1997;6(4):395-8
pubmed: 9175026
Arthritis Rheumatol. 2016 Dec;68(12):2936-2944
pubmed: 27332624
Ann N Y Acad Sci. 2005 Jun;1050:34-9
pubmed: 16014518
Clin Exp Immunol. 2015 Oct;182(1):14-22
pubmed: 26201309
Front Immunol. 2015 Aug 26;6:437
pubmed: 26379672
N Engl J Med. 2009 Jun 11;360(24):2544-55
pubmed: 19458352
Ann Rheum Dis. 2017 Jun;76(6):1042-1050
pubmed: 27899373
Ann Rheum Dis. 2018 Jan;77(1):133-140
pubmed: 28916716
Genes Immun. 2009 Jun;10(4):285-96
pubmed: 19404300
Ann Rheum Dis. 2010 Sep;69(9):1731-2
pubmed: 20215141
Annu Rev Immunol. 2001;19:623-55
pubmed: 11244049
Arthritis Rheum. 2007 Dec;56(12):3989-94
pubmed: 18050197
Nat Genet. 2011 Mar 13;43(4):329-32
pubmed: 21399635
Sci Transl Med. 2013 Jul 24;5(195):195ra96
pubmed: 23884468
Oral Dis. 2012 Mar;18(2):127-31
pubmed: 21895886
Scand J Immunol. 2018 May;87(5):e12662
pubmed: 29655283
Arthritis Rheum. 2011 Feb;63(2):535-44
pubmed: 21280008
J Autoimmun. 2011 Sep;37(2):129-35
pubmed: 21632209
Arthritis Rheum. 2009 Jul;60(7):1991-7
pubmed: 19565491
Clin Dev Immunol. 2010;2010:
pubmed: 20885915
Arthritis Res Ther. 2016 May 03;18(1):95
pubmed: 27142093
Arthritis Rheum. 2005 May;52(5):1534-44
pubmed: 15880807
J Clin Invest. 2002 Jan;109(1):59-68
pubmed: 11781351
Autoimmun Rev. 2016 Dec;15(12):1171-1180
pubmed: 27639156
Proc Natl Acad Sci U S A. 2006 Aug 15;103(33):12481-6
pubmed: 16885212
Ann Rheum Dis. 2010 Jun;69(6):1103-9
pubmed: 19561361
Clin Dev Immunol. 2006 Jun-Dec;13(2-4):185-95
pubmed: 17162361
Immunol Lett. 2012 Jan 30;141(2):165-8
pubmed: 22033216
Eur J Immunol. 2008 Jul;38(7):2024-33
pubmed: 18581327
J Autoimmun. 2014 Jun;51:89-98
pubmed: 23845207
Ann Rheum Dis. 2017 Oct;76(10):1755-1763
pubmed: 28760805
Nature. 2015 Jan 15;517(7534):321-6
pubmed: 25592537
Int J Rheum Dis. 2017 May;20(5):609-613
pubmed: 26620207
Nat Genet. 2008 Apr;40(4):395-402
pubmed: 18311140