Association of HLA genes with Ankylosing Spondylitis in Han Population of eastern China

Fang, Meng; Chen, R.; Cai, Qing; Duan, Shiwei; Lv, Ke; Cheng, Ning; Sun, Shilong

doi:10.1111/j.1365-3083.2007.01936.x

Cited by 6 publications

(3 citation statements)

References 37 publications

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“…The observed significantly higher frequency (before correction) of the STR_MICA-A5 allele among patients [19,20]. In the end, it is of interest to note that, although this microsatellite has shown association with numerous diseases in studies reported so far, we have not observed any correlation between D6S273 and TGCT [20].…”

Section: Resultsmentioning

confidence: 70%

Pilot Study of the Association between the HLA Region and Testicular Carcinoma among Croatian Patients

Gotovac¹,

Grubić²,

Kaštelan

et al. 2011

Urol Int

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Objectives: To analyze the distribution of HLA alleles and HLA microsatellite alleles in Croatian patients with testicular carcinoma, compare it with that of healthy controls and investigate whether the polymorphism within the HLA region could be associated with the development of testicular cancer. Methods: Genomic DNA was isolated from the peripheral blood of 24 patients with testicular germ cell tumors (TGCT). Patients and controls were typed for HLA class I and class II polymorphism by the PCR-SSO method. Nine HLA microsatellites were analyzed by PCR and electrophoresis in an automated sequencer. Results: No significant deviation in the distribution of frequencies at HLA class I alleles was observed between patients and controls. Among HLA class II alleles, a statistically significant increase in the frequency of the HLA-DPB1*1701 allele was found among patients. The frequency of the HLA-DRB1*07-DQA1*0201-DQB1*0202 haplotype was increased in patients in comparison to the controls. Analysis of HLA microsatellites showed an increased frequency of D6S291-3 allele (p_corr = 0.0455, OR = 3.05) among patients. Conclusions: The observed association of the disease and the DPB1*1701 allele as well as with the D6S291-3 allele suggests that this part of the HLA region might be involved in the pathogenesis of TGCT. Our data provide a basis for further studies about the correlation between the HLA region and testicular cancer.

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Section: Resultsmentioning

confidence: 70%

Pilot Study of the Association between the HLA Region and Testicular Carcinoma among Croatian Patients

Gotovac¹,

Grubić²,

Kaštelan

et al. 2011

Urol Int

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“…It has been confirmed that HLA genes are involved in enhancing genetic susceptibility to AS, and the function of KIR on effecter cells is highly dependent on the HLA molecules expressed on target cells (Boyton & Altmann, 2007; Carter et al. , 2007; Fang et al. , 2007).…”

Section: Discussionmentioning

confidence: 96%

KIR3DL1+HLA-B Bw4Ile80 and KIR2DS1+HLA-C2 combinations are both associated with ankylosing spondylitis in the Iranian population

Tajik

Shahsavar

Poormoghim

et al. 2011

International Journal of Immunogenetics

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Contribution of killer cell immunoglobulin-like receptors (KIR) and their human leucocyte antigen (HLA) class I ligands in the pathogenesis of autoimmune diseases has been shown in several studies. In this study, the possible association of KIR genes, their known HLA ligands and compound KIR/HLA genotypes with ankylosing spondylitis (AS) was assessed. Combined KIR/HLA ligand genotyping was performed by a polymerase chain reaction-sequence-specific primers assay in 35 Iranian patients with AS, and genotypes were compared to those in 200 healthy individuals. The frequencies of telomeric cluster genes KIR2DL5A, KIR2DS1 and KIR3DS1 were significantly increased in AS patient group (P(c) = 0.0082, P(c) = 0.0195 and P(c) = 0.0328, respectively). Conversely, HLA-Bw4 ligand (the presence of one or more -B Bw4(Ile80) , -B Bw4(Thr80) and -A Bw4 epitopes) (P(c) = 0.0004) and HLA-B Bw4(Ile80) (P(c) = 0.053) were less frequent in these patients. Meanwhile, compound KIR/HLA genotype analyses revealed lower frequency of KIR3DL1+HLA-B Bw4(Ile80) (P(c) = 0.0343) and higher frequency of KIR2DS1+HLA-C2 (P(c) = 0.0308) combinations in patients with AS than in controls. In addition, the genotypes iKIR+HLA > aKIR+HLA (P(c) = .0308) and iKIR+HLA > aKIR (P(c) = 0.0258) were statistically less common, and genotypes iKIR+HLA = aKIR+HLA (P(c) = 0.0081) and iKIR+HLA < aKIR (P(c) = 0.077) were more common in patient group. Our findings suggest a role for excessive or inappropriate NK cell activation through 'KIR/HLA' system in AS disease.

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“…Consensual diagnosis of AS in each patient was made according to the modified New York criteria [24] by two independent rheumatologists. The patients' pelvic and lumbosacral spine radiographs were read by a radiologist and a third rheumatologist as previously described [25].…”

Section: Methodsmentioning

confidence: 99%

PADI4 Gene Polymorphism is not Associated with Ankylosing Spondylitis in Chinese Han Population

Chen

Wei

Cai

et al. 2010

Scandinavian Journal of Immunology

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The cause of ankylosing spondylitis (AS) remains unelucidated. Both genetic and environmental factors are suspected playing an important role in AS development. Peptidyl arginine deiminase type IV (PADI4) is a member of gene family that encodes enzymes responsible for the conversion of arginine to citrulline residues. A strong linkage between PADI4 polymorphism and rheumatoid arthritis has been found in Japanese and Korean patients, but there is no association study about PADI4 in AS. We speculated that PADI4 may be a pivotal gene for AS development. So we investigated the PADI4 polymorphisms in AS in Chinese Han population. A total of 316 Chinese AS patients of Han nationality and 439 healthy controls were recruited. Five single‐nucleotide polymorphisms (SNP), PADI4‐89 (rs11203366), PADI4‐90 (rs11203367), PADI4‐92 (rs874881) PADI4‐94 (rs2240340) and PADI4‐104 (rs1748033), of PADI4 gene were selected, and the major allele frequencies between cases and controls were assessed as 0.571 versus 0.597, 0.565 versus 0.585, 0.565 versus 0.574, 0.446 versus 0.421 and 0.614 versus 620, respectively. No significant differences in the frequency of PADI4 alleles and genotypes between the cases and controls were observed. Two haplotypes ACGGC and GTCGC were significant with AS even after Bonferroni’s correction but were with a tiny frequency in AS cases as 1.0% and 1.2%, respectively. These results indicate that PADI4 polymorphisms may not play an important role in the development of AS in Chinese Han population.

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Association of HLA genes with Ankylosing Spondylitis in Han Population of eastern China

Cited by 6 publications

References 37 publications

Pilot Study of the Association between the HLA Region and Testicular Carcinoma among Croatian Patients

Pilot Study of the Association between the HLA Region and Testicular Carcinoma among Croatian Patients

KIR3DL1+HLA-B Bw4Ile80 and KIR2DS1+HLA-C2 combinations are both associated with ankylosing spondylitis in the Iranian population

PADI4 Gene Polymorphism is not Associated with Ankylosing Spondylitis in Chinese Han Population

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