HLA-DR genotypes in patients with primary Sjögren's syndrome in Taiwan.

Sjögren's syndrome genotype human leukocyte antigen

Journal

The Kaohsiung journal of medical sciences
ISSN: 2410-8650
Titre abrégé: Kaohsiung J Med Sci
Pays: China (Republic : 1949- )
ID NLM: 100960562

Informations de publication

Date de publication:
08 Aug 2024
Historique:
revised: 16 07 2024
received: 20 05 2024
accepted: 18 07 2024
medline: 8 8 2024
pubmed: 8 8 2024
entrez: 8 8 2024
Statut: aheadofprint

Résumé

Different human leukocyte antigen (HLA) genotypes have been known to be associated with the risk of development of Sjögren's syndrome in different populations, but this association has never been reported in Taiwan. We enrolled 1044 subjects (673 patients, 371 controls) and tested their HLA-DR genotypes. We found an increased risk of Sjögren's syndrome in patients carrying HLA-DR8. DR1 and DR14 were associated with increased risk of eye involvement (uveitis, scleritis or optic neuritis), while DR15 was associated with increased risk of interstitial lung disease. DR8 was associated with increased risk of formation of multiple antibodies: anti-Ro, rheumatoid factor and antinuclear antibodies (ANA) reaching titer 1:80 or above. DR9 was associated with decreased risk of formation of anti-La antibodies and increased risk of formation of antithyroglobulin antibodies. DR10 was associated with risk of formation of anticyclic citrullinated peptide (anti-CCP) antibodies, and DR11 was associated with increased risk of formation of anti-La antibodies. Oral ulcer was found to be negatively associated with anti-Ro antibodies and with anti-ENA antibodies. Skin lesions were associated with ANA antibody titer elevation to 1:80 or above. Malignancies of any kind were associated with the presence of cryoglobulin. Females were more likely to be diagnosed at a younger age than males. There was no statistically significant relationship between HLA-DR genotype and age at disease diagnosis. In patients with Sjögren's syndrome in Taiwan, the presence of HLA-DR8 appeared to be a risk factor. In addition, we found several associations between HLA-DR genotype, clinical presentation, and autoantibody status among them.

Identifiants

pubmed: 39115243
doi: 10.1002/kjm2.12885
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : National Science and Technology Council
ID : NSTC112-2314-B-037-103
Organisme : Kaohsiung Medical University Chung-Ho Memorial Hospital
ID : KMUH112-2R25

Informations de copyright

© 2024 The Author(s). The Kaohsiung Journal of Medical Sciences published by John Wiley & Sons Australia, Ltd on behalf of Kaohsiung Medical University.

Références

Hochberg MC, Gravallese EM, Smolen JS, Heijde DM van der, Weinblatt ME, Weisman MH, editors. Rheumatology. 8th ed. Philadelphia, PA: Elsevier; 2022.
Loscalzo J, Fauci AS, Kasper DL, Hauser SL, Longo DL, Jameson JL, et al. Harrison's principles of internal medicine. 21st ed. New York, NY: McGraw Hill; 2022. p. 1.
Beydon M, McCoy S, Nguyen Y, Sumida T, Mariette X, Seror R. Epidemiology of Sjögren syndrome. Nat Rev Rheumatol. 2024;20(3):158–169.
Li Y, Zhang K, Chen H, Sun F, Xu J, Wu Z, et al. A genome‐wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23. Nat Genet. 2013;45(11):1361–1365.
Konsta OD, Thabet Y, Le Dantec C, Brooks WH, Tzioufas AG, Pers JO, et al. The contribution of epigenetics in Sjögren's syndrome. The contribution of epigenetics in Sjögren's syndrome. Front Genet. 2014;5:71.
Sorgato CC, Lins‐e‐Silva M, Leão JC, Vasconcelos LR, Romão TP, Duarte AL, et al. EBV and CMV viral load in rheumatoid arthritis and their role in associated Sjögren's syndrome. J Oral Pathol Med. 2020;49(7):693–700.
Yamano S, Renard JN, Mizuno F, Narita Y, Uchida Y, Higashiyama H, et al. Retrovirus in salivary glands from patients with Sjogren's syndrome. J Clin Pathol. 1997;50(3):223–230.
McCoy SS, Sampene E, Baer AN. Association of Sjögren's syndrome with reduced lifetime sex hormone exposure: a case‐control study. Arthritis Care Res. 2020;72(9):1315–1322.
Dendrou CA, Petersen J, Rossjohn J, Fugger L. HLA variation and disease. Nat Rev Immunol. 2018;18(5):325–339.
Yen JH, Chen JR, Tsai WJ, Tsai JJ, Liu HW. HLA‐DRB1 genotyping in patients with rheumatoid arthritis in Taiwan. J Rheumatol. 1995;22(8):1450–1454.
Yen CY, Wang PY, Chen KY, Tseng CC, Wu CC, Ou TT, et al. HLA‐DR genotypes in patients with systemic lupus erythematosus in Taiwan. J Chin Med Assoc. 2023;86(12):1060–1065.
Kang HI, Fei HM, Saito I, Sawada S, Chen SL, Yi D, et al. Comparison of HLA class II genes in Caucasoid, Chinese, and Japanese patients with primary Sjögren's syndrome. J Immunol. 1993;150(8 Pt 1):3615–3623.
Cobb BL, Lessard CJ, Harley JB, Moser KL. Genes and Sjögren's Syndrome. Rheum Dis Clin North Am. 2008;34(4):847–868.
Shiboski CH, Shiboski SC, Seror R, Criswell LA, Labetoulle M, Lietman TM, et al. 2016 American College of Rheumatology/European league against rheumatism classification criteria for primary Sjögren's syndrome: a consensus and data‐driven methodology involving three international patient cohorts. Arthritis Rheumatol. 2017;69(1):35–45.
Manthorpe R, Teppo AM, Bendixen G, Wegelius O. Antibodies to SS‐B in chronic inflammatory connective tissue diseases. Relationship with HLA‐Dw2 and HLA‐Dw3 antigens in primary Sjögren's syndrome. Arthritis Rheum. 1982;25(6):662–667.
Moriuchi J, Ichikawa Y, Takaya M, Shimizu H, Uchiyama M, Sato K, et al. Familial Sjögren's syndrome in the Japanese: immunogenetic and serological studies. Clin Exp Rheumatol. 1986;4(3):237–241.
Thurtle E, Grosjean A, Steenackers M, Strege K, Barcelos G, Goswami P. Epidemiology of Sjögren's: a systematic literature review. Rheumatol Ther. 2024;11(1):1–17.
Sjögren's Foundation [Internet]. Sjögren's in men. [cited 2024 Jul 16]. Available from: https://sjogrens.org/living-with-sjogrens/sjogrens-in-men
Chatzis L, Pezoulas VC, Ferro F, Gandolfo S, Donati V, Binutti M, et al. Sjögren's syndrome: the clinical Spectrum of male patients. J Clin Med. 2020;9(8):2620.
Zamecki KJ, Jabs DA. HLA typing in uveitis: use and misuse. Am J Ophthalmol. 2010;149(2):189–193.e2.
Xue J, Gochuico BR, Alawad AS, Feghali‐Bostwick CA, Noth I, Nathan SD, et al. The HLA class II allele DRB1*1501 is over‐represented in patients with idiopathic pulmonary fibrosis. PLoS ONE. 2011;6(2):e14715.
Mori S, Koga Y, Sugimoto M. Different risk factors between interstitial lung disease and airway disease in rheumatoid arthritis. Respir Med. 2012;106(11):1591–1599.
Furukawa H, Oka S, Shimada K, Sugii S, Ohashi J, Matsui T, et al. Association of Human Leukocyte Antigen with interstitial lung disease in rheumatoid arthritis: a protective role for shared epitope. PLoS ONE. 2012;7(5):e33133.
Fingerlin TE, Zhang W, Yang IV, Ainsworth HC, Russell PH, Blumhagen RZ, et al. Genome‐wide imputation study identifies novel HLA locus for pulmonary fibrosis and potential role for auto‐immunity in fibrotic idiopathic interstitial pneumonia. BMC Genet. 2016;17(1):74.
Spagnolo P, Grunewald J, Du Bois RM. Genetic determinants of pulmonary fibrosis: evolving concepts. Lancet Respir Med. 2014;2(5):416–428.
Zhong C, Cozen W, Bolanos R, Song J, Wang SS. The role of HLA variation in lymphoma aetiology and survival. J Intern Med. 2019;286(2):154–180.
Millard TP, Kondeatis E, Vaughan RW, Lewis CM, Khamashta MA, Hughes GR, et al. Polymorphic light eruption and the HLA DRB1*0301 extended haplotype are independent risk factors for cutaneous lupus erythematosus. Lupus. 2001;10(7):473–479.
Fowler JF, Callen JP, Stelzer GT, Cotter PK. Human histocompatibility antigen associations in patients with chronic cutaneous lupus erythematosus. J Am Acad Dermatol. 1985;12(1 Pt 1):73–77.
Terao C, Ohmura K, Yamada R, Kawaguchi T, Shimizu M, Tabara Y, et al. Association between antinuclear antibodies and the HLA class II locus and heterogeneous characteristics of staining patterns: the Nagahama study. Arthritis Rheumatol. 2014;66(12):3395–3403.
van Drongelen V, Holoshitz J. Human leukocyte antigen‐disease associations in rheumatoid arthritis. Rheum Dis Clin North Am. 2017;43(3):363–376.
Provost TT, Watson R. Anti‐Ro(SS‐A) HLA‐DR3‐positive women: the interrelationship between some ANA negative, SS, SCLE, and NLE mothers and SS/LE overlap female patients. J Invest Dermatol. 1993;100(1):14S–20S.
Miyagawa S, Shinohara K, Nakajima M, Kidoguchi KI, Fujita T, Fukumoto T, et al. Polymorphisms of HLA class II genes and autoimmune responses to Ro/SS‐A‐La/SS‐B among Japanese subjects. Arthritis Rheum. 1998;41(5):927–934.
Robazzi TCMV, Adan LFF. Autoimmune thyroid disease in patients with rheumatic diseases. Rev Bras Reumatol. 2012;52(3):417–430.
Thompson C, Farid NR. Post‐partum thyroiditis and goitrous (Hashimoto's) thyroiditis are associated with HLA‐DR4. Immunol Lett. 1985;11(5–6):301–303.
Tachi J, Amino N, Tamaki H, Aozasa M, Iwatani Y, Miyai K. Long term follow‐up and HLA association in patients with postpartum hypothyroidism. J Clin Endocrinol Metab. 1988;66(3):480–484.
Nelson JL, Dugowson CE, Koepsell TD, Voigt LF, Branchaud AM, Barrington RA, et al. Rheumatoid factor, HLA‐DR4, and allelic variants of DRB1 in women with recent‐onset rheumatoid arthritis. Arthritis Rheum. 1994;37(5):673–680.
Teramoto N, Katayama I, Arai H, Eto H, Kamimura K, Uetsuka M, et al. Annular erythema: a possible association with primary Sjögren's syndrome. J Am Acad Dermatol. 1989;20(4):596–601.
Brito‐Zerón P, Retamozo S, Akasbi M, Gandía M, Perez‐De‐Lis M, Soto‐Cardenas MJ, et al. Annular erythema in primary Sjogren's syndrome: description of 43 non‐Asian cases. Lupus. 2014;23(2):166–175.
Thorlacius GE, Hultin‐Rosenberg L, Sandling JK, Bianchi M, Imgenberg‐Kreuz J, Pucholt P, et al. Genetic and clinical basis for two distinct subtypes of primary Sjögren's syndrome. Rheumatology. 2021;60(2):837–848.
Cruz‐Tapias P, Rojas‐Villarraga A, Maier‐Moore S, Anaya JM. HLA and Sjögren's syndrome susceptibility. A meta‐analysis of worldwide studies. Autoimmun Rev. 2012;11(4):281–287.

Auteurs

Chang-Yi Yen (CY)

Division of Rheumatology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Institute of Medical Informatics, College of Electrical Engineering and Computer Science, National Cheng Kung University, Tainan, Taiwan.
Department of Internal Medicine, Kaohsiung Municipal Ta-Tung Hospital, Kaohsiung, Taiwan.

Pin-Yi Wang (PY)

Division of Rheumatology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.

Kuan-Yu Chen (KY)

Division of Rheumatology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.

Chia-Chun Tseng (CC)

Division of Rheumatology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.

Cheng-Chin Wu (CC)

Division of Rheumatology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.

Tsan-Teng Ou (TT)

Division of Rheumatology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.

Jeng-Hsien Yen (JH)

Division of Rheumatology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
Institute of Biomedical Science, National Sun Yat-Sen University, Kaohsiung, Taiwan.
Department of Biomedical Science and Technology, National Yang Ming Chiao Tung University, Hsinchu, Taiwan.

Classifications MeSH