CT60 and +49 polymorphisms of CTLA 4 are associated with ANCA-positive small vessel vasculitis

L Kamesh; JM Heward; Julie Williams; Stephen Gough; KM Chavele; A Salama; C Pusey; Caroline Savage; Lorraine Harper

doi:10.1093/rheumatology/kep280

CT60 and +49 polymorphisms of CTLA 4 are associated with ANCA-positive small vessel vasculitis

L Kamesh, JM Heward, Julie Williams, Stephen Gough, KM Chavele, A Salama, C Pusey, Caroline Savage, Lorraine Harper

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Abstract

OBJECTIVE: To investigate whether single nucleotide polymorphisms (SNPs) within cytotoxic T-lymphocyte antigen-4 (CTLA-4) are associated with ANCA-associated small vessel vasculitis (SVV). METHODS: The CTLA-4 CT60 (exon 4), +49 (exon 1) and -318 (promoter region) genotypes were determined by PCR and restriction fragment length polymorphism (RFLP) in 222 white Caucasians of UK origin with SVV and 670 ethnically matched controls. RESULTS: The CTLA-4 exon 1 (+49) and 4 (CT60) polymorphisms are associated with SVV (+49: chi(2) = 10.965, P = 0.004; CT60: chi(2) = 12.017, P = 0.002). Both disease-susceptible and disease-protective haplotypes have been identified in this cohort, and their frequencies are similar in the subtypes of WG and microscopic polyangiitis. CONCLUSION: This study provides further evidence that CTLA-4, a susceptibility locus for a number of common autoimmune diseases, may also be involved in the development of ANCA-associated SVV.

Original language	English
Pages (from-to)	1502-5
Number of pages	4
Journal	Rheumatology
Volume	48
Issue number	12
DOIs	https://doi.org/10.1093/rheumatology/kep280
Publication status	Published - 1 Dec 2009

Keywords

Vasculitis
Polymorphisms
CTLA-4

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@article{515267f444cb4045916b404f70761d1a,

title = "CT60 and +49 polymorphisms of CTLA 4 are associated with ANCA-positive small vessel vasculitis",

abstract = "OBJECTIVE: To investigate whether single nucleotide polymorphisms (SNPs) within cytotoxic T-lymphocyte antigen-4 (CTLA-4) are associated with ANCA-associated small vessel vasculitis (SVV). METHODS: The CTLA-4 CT60 (exon 4), +49 (exon 1) and -318 (promoter region) genotypes were determined by PCR and restriction fragment length polymorphism (RFLP) in 222 white Caucasians of UK origin with SVV and 670 ethnically matched controls. RESULTS: The CTLA-4 exon 1 (+49) and 4 (CT60) polymorphisms are associated with SVV (+49: chi(2) = 10.965, P = 0.004; CT60: chi(2) = 12.017, P = 0.002). Both disease-susceptible and disease-protective haplotypes have been identified in this cohort, and their frequencies are similar in the subtypes of WG and microscopic polyangiitis. CONCLUSION: This study provides further evidence that CTLA-4, a susceptibility locus for a number of common autoimmune diseases, may also be involved in the development of ANCA-associated SVV.",

keywords = "Vasculitis, Polymorphisms, CTLA-4",

author = "L Kamesh and JM Heward and Julie Williams and Stephen Gough and KM Chavele and A Salama and C Pusey and Caroline Savage and Lorraine Harper",

year = "2009",

month = dec,

day = "1",

doi = "10.1093/rheumatology/kep280",

language = "English",

volume = "48",

pages = "1502--5",

journal = "Rheumatology",

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publisher = "Oxford University Press",

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TY - JOUR

T1 - CT60 and +49 polymorphisms of CTLA 4 are associated with ANCA-positive small vessel vasculitis

AU - Kamesh, L

AU - Heward, JM

AU - Williams, Julie

AU - Gough, Stephen

AU - Chavele, KM

AU - Salama, A

AU - Pusey, C

AU - Savage, Caroline

AU - Harper, Lorraine

PY - 2009/12/1

Y1 - 2009/12/1

N2 - OBJECTIVE: To investigate whether single nucleotide polymorphisms (SNPs) within cytotoxic T-lymphocyte antigen-4 (CTLA-4) are associated with ANCA-associated small vessel vasculitis (SVV). METHODS: The CTLA-4 CT60 (exon 4), +49 (exon 1) and -318 (promoter region) genotypes were determined by PCR and restriction fragment length polymorphism (RFLP) in 222 white Caucasians of UK origin with SVV and 670 ethnically matched controls. RESULTS: The CTLA-4 exon 1 (+49) and 4 (CT60) polymorphisms are associated with SVV (+49: chi(2) = 10.965, P = 0.004; CT60: chi(2) = 12.017, P = 0.002). Both disease-susceptible and disease-protective haplotypes have been identified in this cohort, and their frequencies are similar in the subtypes of WG and microscopic polyangiitis. CONCLUSION: This study provides further evidence that CTLA-4, a susceptibility locus for a number of common autoimmune diseases, may also be involved in the development of ANCA-associated SVV.

AB - OBJECTIVE: To investigate whether single nucleotide polymorphisms (SNPs) within cytotoxic T-lymphocyte antigen-4 (CTLA-4) are associated with ANCA-associated small vessel vasculitis (SVV). METHODS: The CTLA-4 CT60 (exon 4), +49 (exon 1) and -318 (promoter region) genotypes were determined by PCR and restriction fragment length polymorphism (RFLP) in 222 white Caucasians of UK origin with SVV and 670 ethnically matched controls. RESULTS: The CTLA-4 exon 1 (+49) and 4 (CT60) polymorphisms are associated with SVV (+49: chi(2) = 10.965, P = 0.004; CT60: chi(2) = 12.017, P = 0.002). Both disease-susceptible and disease-protective haplotypes have been identified in this cohort, and their frequencies are similar in the subtypes of WG and microscopic polyangiitis. CONCLUSION: This study provides further evidence that CTLA-4, a susceptibility locus for a number of common autoimmune diseases, may also be involved in the development of ANCA-associated SVV.

KW - Vasculitis

KW - Polymorphisms

KW - CTLA-4

U2 - 10.1093/rheumatology/kep280

DO - 10.1093/rheumatology/kep280

M3 - Article

C2 - 19815671

SN - 1460-2172

SN - 1462-0332

VL - 48

SP - 1502

EP - 1505

JO - Rheumatology

JF - Rheumatology

IS - 12

ER -

CT60 and +49 polymorphisms of CTLA 4 are associated with ANCA-positive small vessel vasculitis

Abstract

Keywords

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