Distribution of HLA-B*27 subtypes in Tunisians and their association with ankylosing spondylitis

Radhia, Karima Ben; Ayed-Jendoubi, Saloua; Sfar, I.; Romdhane, Thouraya Ben; Makhlouf, M.; Gorgi, Yousr; Ayed, K.

doi:10.1016/j.jbspin.2007.05.020

Cited by 28 publications

(16 citation statements)

References 31 publications

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“…Furthermore, several HLA‐B27 associations were described for HLA class I and II alleles associated with AS. B27/C*01 and B27/C*02 in Caucasian populations , B*27:05/C*02:022 and B*27:02/C*02:022 in Mexican, Spanish and Tunisian populations which reinforce our own results. Associations regarding HLA‐DRB1 and ‐DQB1 haplotypes are limited, however, B27/DRB1*11/DQB1*03 in the Tunisian population and B27/DRB1*07 in the British population have been reported .…”

Section: Discussionsupporting

confidence: 90%

HLA alleles and HLA‐B27 haplotypes associated with susceptibility and severity of ankylosing spondylitis in a Portuguese population

Pimentel-Santos

Matos

Ligeiro³

et al. 2013

Tissue Antigens

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Human leukocyte antigen (HLA)-B27 is the mostly known major histocompatibility complex (MHC) gene associated with ankylosing spondylitis (AS). Nonetheless, there is substantial evidence that other MHC genes appear to be associated with the disease, although it has not yet been established whether these associations are driven by direct associations or by linkage disequilibrium (LD) mechanisms. We aimed to investigate the contributions of HLA class I and II alleles and B27-haplotypes for AS in a case-control study. A total of 188 HLA-B27 AS cases and 189 HLA-B27 healthy controls were selected and typed for HLA class I and II by the Luminex polymerase chain reaction-sequence specific oligonucleotide probe (PCR-SSOP) method. Allelic and haplotypic distributions were estimated by maximum likelihood method using Arlequin v3.11 and statistical analysis were performed by Stata10.1. No associations were found between non-HLA-B27 loci and AS susceptibility, but several associations were observed for phenotypic features of the disease. DRB1*08 was identified as a risk factor for uveitis and DQB1*04 seems to provide protection for AS severity (functional, metrological and radiological indexes). A*02/B27/C*02/DRB1*01/DQB1*05 [P<0.0001; odds ratio (OR) = 39.06; 95% confidence interval (CI) (2.34-651)] is the only haplotype that seems to confer susceptibility to AS. Moreover, the haplotype A*02/B27/C*01/DRB1*08/DQB1*04 seems to provide protection for disease functional and radiological repercussions. Our findings are compatible with the hypothesis that other genes within the HLA region besides HLA-B27 might play some role in AS susceptibility and severity.

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Section: Discussionsupporting

confidence: 90%

HLA alleles and HLA‐B27 haplotypes associated with susceptibility and severity of ankylosing spondylitis in a Portuguese population

Pimentel-Santos

Matos

Ligeiro³

et al. 2013

Tissue Antigens

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“…This residue is thought to be involved in B27-homodimer formation, potentially explaining the association of these alleles with AS. A third case has been reported from Tunisia, although no clinical details or other genetic information were available [16]. These cases confirm that whilst B*2709 has a weaker association with disease in comparison with B*2705, it is not absolutely protective for AS…”

Section: Major Histocompatibility Complex and Ankylosing Spondylitis mentioning

confidence: 84%

“…For some subtypes, however there is evidence of differential strength of association with AS. AS has been reported to occur with the following subtypes: B*2701, B*2702 [11], B*2703 [12], B*2704 [13], B*2705 [11], B*2706 [14], B*2707 [15], B*2708 [15], B*2709 [16], B*2710 [17], B*2714 [18], B*2715 [18], B*2719 [19] and B*2730 [20]. …”

Section: Major Histocompatibility Complex and Ankylosing Spondylitis mentioning

confidence: 99%

Progress in spondylarthritis. Progress in studies of the genetics of ankylosing spondylitis

Brown

2009

Arthritis Res Ther

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The advent of high-throughput SNP genotyping methods has advanced research into the genetics of common complex genetic diseases such as ankylosing spondylitis (AS) rapidly in recent times. The identification of associations with the genes IL23R and ERAP1 have been robustly replicated, and advances have been made in studies of the major histocompatibility complex genetics of AS, and of KIR gene variants and the disease. The findings are already being translated into increased understanding of the immunological pathways involved in AS, and raising novel potential therapies. The current studies in AS remain underpowered, and no full genomewide association study has yet been reported in AS; such studies are likely to add to the significant advances that have already been made.

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“…HLA-B*27:02 was reported in AS patients of Europeans, especially more frequent in Southern European [2]. HLA-B*27:03 appeared in Black African populations [3]. HLA-B*27:04 is the most common AS-risk allele in Chinese Han, Taiwanese and Japanese [4-6] , HLA-B*27:05, the “parent” HLA-B27 allele, is present in almost all populations, and is the major AS allele in Caucasians, American Indians [3] and Koreans [7].…”

Section: Introductionmentioning

confidence: 99%

“…HLA-B*27:03 appeared in Black African populations [3]. HLA-B*27:04 is the most common AS-risk allele in Chinese Han, Taiwanese and Japanese [4-6] , HLA-B*27:05, the “parent” HLA-B27 allele, is present in almost all populations, and is the major AS allele in Caucasians, American Indians [3] and Koreans [7]. HLA-B*27:06 is a relatively rare subtype of HLA-B27 occurring most commonly in Southeast Asian individuals, Thai, Taiwanese and Singaporean populations [8], and is thought to be unassociated with AS.…”

Section: Introductionmentioning

confidence: 99%

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

Yao¹,

Wang²,

Espitia³

et al. 2013

TORJ

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Human leucocyte antigen (HLA) B*27 is a susceptibility allele to ankylosing spondylitis (AS). However, major AS-associated subtypes of HLA-B*27 and other HLA-B alleles vary in different ethnic populations. Herein, we examined HLA-B alleles in a total of 360 AS patients and 350 controls of Chinese Han ancestry. The HLA-B genotyping was performed with sequence-based typing (SBT) method. Six HLA-B*27 subtypes B*27:04, B*27:05, B*27:07, B*27:08, B*27:10 and B*27:15 were observed in the cohorts. HLA-B*27:04:01 and -B*27:05:02 appeared significantly increased in AS patients, which indicated as two major susceptibility alleles to AS. Homozygous B*27 was observed only in AS patients. There are 30 HLA-B alleles identified in the studies. HLA-B*15, especially B*15:01:01:01, appeared as the major allele type in the Chinese controls. Some common HLA-B alleles such as HLA-B*15, B*13, B*46 and B*51 were significantly reduced in Chinese AS patients. In conclusion, the studies profiled the HLA-B alleles, and identified major susceptibility subtypes of B27 to AS in Han Chinese population

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Distribution of HLA-B*27 subtypes in Tunisians and their association with ankylosing spondylitis

Cited by 28 publications

References 31 publications

HLA alleles and HLA‐B27 haplotypes associated with susceptibility and severity of ankylosing spondylitis in a Portuguese population

HLA alleles and HLA‐B27 haplotypes associated with susceptibility and severity of ankylosing spondylitis in a Portuguese population

Progress in spondylarthritis. Progress in studies of the genetics of ankylosing spondylitis

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

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