Profiling of HLA-B Alleles for Association Studies with Ankylosing Spondylitis in the Chinese Population

Yao, Lin; Wang, Jiucun; Espitia, Maribel; Chen, Enuo; Assassi, Shervin; Jin, Li; Zou, Hejian; Reveille, John D.; Zhou, Xiaodong

doi:10.2174/1874312920130628001

Cited by 24 publications

(37 citation statements)

References 18 publications

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“…Most volunteers were male (77/121), with no gender ratio difference between groups, and disease duration was similar between the four groups. The HLA-B27 prevalence was higher in nr-axSpA (28/32 = 87.5%) and AS (42/44 = 95.5%) groups than in controls, but was also high overall including in non-inflammatory (10/23 = 43.5%) and inflammatory controls (7/18 = 38.9%), compared with the HLA-B27 prevalence in the Chinese general population (~4%, [13,14]). This likely reflects bias amongst patients with chronic back 1c) and structural lesions were regarded as fat deposition, sclerosis, erosions, or bony ankylosis [2] (Fig.…”

Section: Assessment Methodsmentioning

confidence: 79%

MRI compared with low-dose CT scanning in the diagnosis of axial spondyloarthritis

Liu

Xiao

et al. 2019

Clin Rheumatol

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Objectives To compare the performance of conventional radiography, ldCT, and MRI in the diagnosis of sacroiliitis in suspected axial spondyloarthritis (axSpA). Methods Patients presenting with > 3 months chronic back pain were assessed by axSpA-experienced rheumatologists and diagnosed as axSpA or not; axSpA patients were then considered nr-axSpA or AS using plain radiography. Non-axSpA patients were recruited as controls, and divided into non-inflammatory and inflammatory groups on the basis of inflammatory back pain and/or CRP/ESR elevation. Clinical variables, pelvic radiography, sacroiliac joint (SIJ) ldCT, and SIJ MRI were obtained. Results A total of 121 patients were included and had SIJ radiography and ldCT, of whom 71 additionally had an SIJ MRI. These included 23 non-inflammatory controls, 21 inflammatory controls, 32 nr-axSpA cases, and 45 AS cases. Fourteen of 32 (44%) nr-axSpA patients had positive ldCT scans, 21/24 (88%) had MRI-BMO, and 11/24 (46%) had MRI-structural lesions. ldCT had high specificity with only 1/23 (4%) non-inflammatory controls being positive. MRI-BMO had the highest sensitivity for nr-axSpA, but compared with ldCT lower specificity, with 5/15 (33%) of non-inflammatory controls being positive, and similar sensitivity for AS (20/22 (91%) vs 44/44 for ldCT). Conclusions ldCT identifies evidence of radiographic change in a significant proportion of nr-axSpA cases and is highly specific for axSpA. MRI-BMO lesions are more sensitive than either conventional radiography or MRI-structural assessment for axSpA. The relative position of these imaging modalities in screening for axSpA needs to be reconsidered, also taking into account the costs involved. Key Points • ldCT is more sensitive for erosions or sclerosis in axSpA than plain radiography, with 44% of patients with nr-axSpA having evidence of AS-related sacroiliac joint changes on ldCT. • MRI-structural lesions are no more sensitive but are less specific for AS than ldCT. • MRI-BMO is the most sensitive test for nr-axSpA of the modalities tested but is less specific for axSpA than for ldCT. Keywords axSpA. Conventional radiography. Diagnostics. ldCT. Imaging procedures. MRI Matthew A. Brown and Dan Chen contributed equally to this work.

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Section: Assessment Methodsmentioning

confidence: 79%

MRI compared with low-dose CT scanning in the diagnosis of axial spondyloarthritis

Liu

Xiao

et al. 2019

Clin Rheumatol

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“…HLA-B*7 has been shown to be highly protective against AS in Chinese (odds ratio after control for HLA-B*27 =0.15). 48 Another study in the Korean population using Immunochip reported that HLA-C*15:02 allele was associated with AS in addition to HLA-B*27 . 49 …”

Section: Non-hla-b*27 Mhc Associationsmentioning

confidence: 99%

Progress of genome‐wide association studies of ankylosing spondylitis

Brown

2017

Clin & Trans Imm

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Ankylosing spondylitis (AS) is an immune-mediated arthritis which primarily affects the spine and sacroiliac joints. Significant progress has been made in discovery of genetic associations with AS by genome-wide association studies (GWAS) over past decade. These findings have uncovered novel pathways involved pathogenesis of the disease and have led to introduction of novel therapeutic treatments for AS. In this Review, we discuss the genetic variations associated with AS identified by GWAS, the major pathways revealed by these AS-associated variations and critical cell types involved in AS development.

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“…Also using HLA imputation methods, a study in 654 Korean cases of AS and 3166 controls additionally identified association at HLA-C*15:02 [2]. Additionally, using direct genotyping in 360 Han Chinese AS cases and 350 controls with no genomic control for population stratification, risk association of HLA-B*40 and protective association of HLA-B*07 have been demonstrated [3].…”

Section: Introductionmentioning

confidence: 99%

MHC associations of ankylosing spondylitis in East Asians are complex and involve non-HLA-B27 HLA contributions

Wang

Kim

et al. 2020

Arthritis Res Ther

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Background: The association of HLA-B*27 with AS is amongst the strongest of any known association of a common variant with any human disease. Nonetheless, there is strong evidence indicating that other HLA-B alleles are involved in the disease. European ethnicity studies have demonstrated risk associations with HLA-B*40 and multiple other HLA-B, HLA-A, and HLA class II alleles, and demonstrated that in that ethnic group, the amino acid sequence at position 97 in HLA-B is the key determinant of HLA associations with AS. A recent study in Korean AS cases and controls additionally identified association at HLA-C*15:02. In the current study, we examined the MHC associations of AS in an expanded East Asian cohort. Methods: A total of 1637 Chinese, Taiwanese, and Korean AS cases meeting the modified New York Criteria for AS, and 1589 ethnically matched controls, were genotyped with the Illumina Immunochip, including a dense coverage of the MHC region. HLA genotypes and amino acid composition were imputed using the SNP2HLA programme using the Han-MHC reference panel based on the data of Han Chinese subjects (n = 9689), and association tested using logistic regression controlling for population stratification effects. Results: A strong association was seen with HLA-B*27 (odds ratio (OR) = 205.3, P = 5.76 × 10 −244). Controlling for this association, the strongest risk association is seen with HLA-C*15 at genome-wide significant level (OR = 7.62, P = 9.30 × 10 −19), and confirmed association is also seen with HLA-B*40 at suggestive level (OR = 1.65, P = 2.54 × 10 −4). At amino acid level, the strongest association seen in uncontrolled analysis was with histidine at position 114 in HLA-B (P = 7.24 × 10 −241), but conditional analyses suggest that the primary amino acid associations are with lysine at position 70 and asparagine at position 97. Restriction of the ERAP1 association with HLA-B27-positive AS, previously reported in European subjects, was confirmed in East Asians.

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Profiling of HLA-B Alleles for Association Studies with Ankylosing Spondylitis in the Chinese Population

Cited by 24 publications

References 18 publications

MRI compared with low-dose CT scanning in the diagnosis of axial spondyloarthritis

MRI compared with low-dose CT scanning in the diagnosis of axial spondyloarthritis

Progress of genome‐wide association studies of ankylosing spondylitis

MHC associations of ankylosing spondylitis in East Asians are complex and involve non-HLA-B27 HLA contributions

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