Subtype-specific inherited predisposition to pemphigus in the Chinese population.

Adult Aged Asian People / genetics Biopsy Case-Control Studies Female Gene Frequency Genetic Predisposition to Disease Genome-Wide Association Study HLA Antigens / genetics Haplotypes / immunology Healthy Volunteers Humans Male Middle Aged Pemphigus / genetics Skin / immunology

Journal

The British journal of dermatology
ISSN: 1365-2133
Titre abrégé: Br J Dermatol
Pays: England
ID NLM: 0004041

Informations de publication

Date de publication:
04 2019
Historique:
accepted: 07 09 2018
pubmed: 20 9 2018
medline: 21 4 2020
entrez: 20 9 2018
Statut: ppublish

Résumé

Pemphigus is a group of rare life-threatening mucocutaneous autoimmune diseases, presenting mainly as two subtypes: pemphigus vulgaris (PV) and pemphigus foliaceus (PF). Inherited predispositions to pemphigus have long been speculated but they remain poorly understood. To identify common and specific nongenetic and genetic factors associated with pemphigus and its subtypes in the Chinese population. A genome-wide association study (GWAS) was performed in 496 unrelated patients with pemphigus (including 365 with PV and 104 with PF) and 1105 controls without pemphigus. A sex preference was observed only in PV (57·5% female) and not in PF (47·1% female). For male patients only, the mean age at diagnosis was significantly lower for PV than for PF (P < 0·001). The strongest associated single-nucleotide polymorphisms are in the human leucocyte antigen (HLA) region: rs70993900 (PV; P = 1·5 × 10 This study represents the largest GWAS on pemphigus in the Chinese population published to date, and has allowed us to identify HLA haplotypes significantly shared between or specific to the two main subtypes of pemphigus.

Sections du résumé

BACKGROUND
Pemphigus is a group of rare life-threatening mucocutaneous autoimmune diseases, presenting mainly as two subtypes: pemphigus vulgaris (PV) and pemphigus foliaceus (PF). Inherited predispositions to pemphigus have long been speculated but they remain poorly understood.
OBJECTIVES
To identify common and specific nongenetic and genetic factors associated with pemphigus and its subtypes in the Chinese population.
METHODS
A genome-wide association study (GWAS) was performed in 496 unrelated patients with pemphigus (including 365 with PV and 104 with PF) and 1105 controls without pemphigus.
RESULTS
A sex preference was observed only in PV (57·5% female) and not in PF (47·1% female). For male patients only, the mean age at diagnosis was significantly lower for PV than for PF (P < 0·001). The strongest associated single-nucleotide polymorphisms are in the human leucocyte antigen (HLA) region: rs70993900 (PV; P = 1·5 × 10
CONCLUSIONS
This study represents the largest GWAS on pemphigus in the Chinese population published to date, and has allowed us to identify HLA haplotypes significantly shared between or specific to the two main subtypes of pemphigus.

Identifiants

DOI: 10.1111/bjd.17191 PMID: 30230522
pubmed: 30230522
doi: 10.1111/bjd.17191
doi:

Substances chimiques

HLA Antigens 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

828-835

Commentaires et corrections

Type : CommentIn

Informations de copyright

© 2018 British Association of Dermatologists.

Auteurs

S Y Zhang (SY)

Department of Dermatovenereology, Rare Disease Center, West China Hospital, Sichuan University, No. 37 Guo Xue Xiang Street, Chengdu, Sichuan, China, 610041.
Precision Medicine Center, State Key Laboratory of Biotherapy, Precision Medicine Key Laboratory of Sichuan Province, West China Hospital, Sichuan University and Collaborative Innovation Center, No. 17, Section 3, South Renmin Road, Chengdu, Sichuan, China, 610041.
ORCID: 0000-0001-5780-5190

X Y Zhou (XY)

Precision Medicine Center, State Key Laboratory of Biotherapy, Precision Medicine Key Laboratory of Sichuan Province, West China Hospital, Sichuan University and Collaborative Innovation Center, No. 17, Section 3, South Renmin Road, Chengdu, Sichuan, China, 610041.

X L Zhou (XL)

Department of Dermatovenereology, Rare Disease Center, West China Hospital, Sichuan University, No. 37 Guo Xue Xiang Street, Chengdu, Sichuan, China, 610041.

Y Zhang (Y)

Department of Thoracic Oncology, Cancer Center, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, Sichuan, China.

Y Deng (Y)

National Office for Maternal and Child Health Surveillance of China, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.

F Liao (F)

Precision Medicine Center, State Key Laboratory of Biotherapy, Precision Medicine Key Laboratory of Sichuan Province, West China Hospital, Sichuan University and Collaborative Innovation Center, No. 17, Section 3, South Renmin Road, Chengdu, Sichuan, China, 610041.

M Yang (M)

Department of Pathology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.

X Y Xia (XY)

Precision Medicine Center, State Key Laboratory of Biotherapy, Precision Medicine Key Laboratory of Sichuan Province, West China Hospital, Sichuan University and Collaborative Innovation Center, No. 17, Section 3, South Renmin Road, Chengdu, Sichuan, China, 610041.

Y H Zhou (YH)

Department of Laboratory Medicine, Research Center of Clinical Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan, China.

D D Yin (DD)

Precision Medicine Center, State Key Laboratory of Biotherapy, Precision Medicine Key Laboratory of Sichuan Province, West China Hospital, Sichuan University and Collaborative Innovation Center, No. 17, Section 3, South Renmin Road, Chengdu, Sichuan, China, 610041.

P Ojaswi (P)

Department of Dermatovenereology, Rare Disease Center, West China Hospital, Sichuan University, No. 37 Guo Xue Xiang Street, Chengdu, Sichuan, China, 610041.

Q Q Hou (QQ)

Precision Medicine Center, State Key Laboratory of Biotherapy, Precision Medicine Key Laboratory of Sichuan Province, West China Hospital, Sichuan University and Collaborative Innovation Center, No. 17, Section 3, South Renmin Road, Chengdu, Sichuan, China, 610041.

L Wang (L)

Department of Dermatovenereology, Rare Disease Center, West China Hospital, Sichuan University, No. 37 Guo Xue Xiang Street, Chengdu, Sichuan, China, 610041.

D Y Zhang (DY)

Precision Medicine Center, State Key Laboratory of Biotherapy, Precision Medicine Key Laboratory of Sichuan Province, West China Hospital, Sichuan University and Collaborative Innovation Center, No. 17, Section 3, South Renmin Road, Chengdu, Sichuan, China, 610041.

D M Xia (DM)

Department of Dermatovenereology, Rare Disease Center, West China Hospital, Sichuan University, No. 37 Guo Xue Xiang Street, Chengdu, Sichuan, China, 610041.

Y Q Deng (YQ)

Precision Medicine Center, State Key Laboratory of Biotherapy, Precision Medicine Key Laboratory of Sichuan Province, West China Hospital, Sichuan University and Collaborative Innovation Center, No. 17, Section 3, South Renmin Road, Chengdu, Sichuan, China, 610041.

L Ding (L)

Department of Dermatovenereology, Rare Disease Center, West China Hospital, Sichuan University, No. 37 Guo Xue Xiang Street, Chengdu, Sichuan, China, 610041.

H J Liu (HJ)

Department of Dermatovenereology, Rare Disease Center, West China Hospital, Sichuan University, No. 37 Guo Xue Xiang Street, Chengdu, Sichuan, China, 610041.

W Yan (W)

Department of Dermatovenereology, Rare Disease Center, West China Hospital, Sichuan University, No. 37 Guo Xue Xiang Street, Chengdu, Sichuan, China, 610041.
ORCID: 0000-0002-6735-6066

M M Li (MM)

Department of Dermatovenereology, Rare Disease Center, West China Hospital, Sichuan University, No. 37 Guo Xue Xiang Street, Chengdu, Sichuan, China, 610041.

W T Ma (WT)

Department of Dermatovenereology, Rare Disease Center, West China Hospital, Sichuan University, No. 37 Guo Xue Xiang Street, Chengdu, Sichuan, China, 610041.

J J Ma (JJ)

Department of Dermatovenereology, Rare Disease Center, West China Hospital, Sichuan University, No. 37 Guo Xue Xiang Street, Chengdu, Sichuan, China, 610041.

Q Yu (Q)

Department of Dermatovenereology, Rare Disease Center, West China Hospital, Sichuan University, No. 37 Guo Xue Xiang Street, Chengdu, Sichuan, China, 610041.

B Liu (B)

State Key Laboratory of Biotherapy, West China Hospital, Sichuan University and Collaborative Innovation Center, Chengdu, Sichuan, China.

L Yang (L)

State Key Laboratory of Biotherapy, West China Hospital, Sichuan University and Collaborative Innovation Center, Chengdu, Sichuan, China.

W Zhang (W)

Department of Clinical Pharmacology, Hunan Key Laboratory of Pharmacogenetics, Xiangya Hospital, Central South University, Changsha, China.

Y Shu (Y)

Precision Medicine Center, State Key Laboratory of Biotherapy, Precision Medicine Key Laboratory of Sichuan Province, West China Hospital, Sichuan University and Collaborative Innovation Center, No. 17, Section 3, South Renmin Road, Chengdu, Sichuan, China, 610041.

H Xu (H)

Precision Medicine Center, State Key Laboratory of Biotherapy, Precision Medicine Key Laboratory of Sichuan Province, West China Hospital, Sichuan University and Collaborative Innovation Center, No. 17, Section 3, South Renmin Road, Chengdu, Sichuan, China, 610041.
Department of Laboratory Medicine, Research Center of Clinical Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
ORCID: 0000-0002-7748-2621

W Li (W)

Department of Dermatovenereology, Rare Disease Center, West China Hospital, Sichuan University, No. 37 Guo Xue Xiang Street, Chengdu, Sichuan, China, 610041.
ORCID: 0000-0002-9585-2884

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Subtype-specific inherited predisposition to...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › Subtype-specific inherited predisposition to...
questionsmedicales.fr › Personnes › Asiatiques › Subtype-specific inherited predisposition to...
questionsmedicales.fr › Techniques d'investigation › Techniques cytologiques › Cytodiagnostic › Biopsie › Subtype-specific inherited predisposition to...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études cas-témoins › Subtype-specific inherited predisposition to...
questionsmedicales.fr › Phénomènes génétiques › Fréquence d'allèle › Subtype-specific inherited predisposition to...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Subtype-specific inherited predisposition to...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Subtype-specific inherited predisposition to...
questionsmedicales.fr › Facteurs biologiques › Antigènes › Isoantigènes › Antigènes d'histocompatibilité › Antigènes HLA › Subtype-specific inherited predisposition to...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Haplotypes › Subtype-specific inherited predisposition to...
questionsmedicales.fr › Personnes › Bénévoles › Volontaires sains › Subtype-specific inherited predisposition to...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Subtype-specific inherited predisposition to...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Subtype-specific inherited predisposition to...
questionsmedicales.fr › Maladies du système immunitaire › Maladies auto-immunes › Pemphigus › Subtype-specific inherited predisposition to...
questionsmedicales.fr › Système tégumentaire › Peau › Subtype-specific inherited predisposition to...