Analysis of HLA haplotypes in Japanese, using high resolution allele typing

Nakajima, Fumiaki; Nakamura, Junko; Yokota, Toshikazu

doi:10.12667/mhc.8.1

Cited by 55 publications

(62 citation statements)

References 17 publications

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“…All patients and controls were residents of Honshu or Kyushu islands, two main islands of Japan, and it is well known that there is no significant difference in allele frequencies of genes in the HLA region among residents of four main islands in Japan. 21,22 It is also well known that there was no age-related or gender-related difference in the allele frequencies of HLA genes. Therefore, the control group was neither age-matched nor gender-matched to the patient groups.…”

Section: Materials and Methods Subjectsmentioning

confidence: 99%

“…DNA typing of HLA-DPB1 was done by the restriction enzyme fragment length polymorphism technique 26,27 using eight restriction enzymes, RsaI, Sau96I, BsrBI, DdeI, BsaJI, BssHII, SacI and BsgI, which enabled us to detect all the DPB1 alleles with allele frequencies 40.005 in the Japanese. 21,22 The promoter polymorphism of IKBL gene (IKBLp allele) located in the HLA class I and class III boundary regions was also analyzed as a genetic marker, as described earlier. 28 …”

Section: Hla Typing and Microsatellite Marker Typingmentioning

confidence: 99%

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HLA-DPB1 and NFKBIL1 may confer the susceptibility to chronic thromboembolic pulmonary hypertension in the absence of deep vein thrombosis

et al. 2009

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Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by pulmonary hypertension caused by thromboembolism of the pulmonary artery. Etiology of CTEPH may be heterogeneous and is largely unknown, but genetic factors are considered to be involved in the etiology. It has been reported that deep vein thrombosis (DVT) and/or coagulation factor variants are predisposing factors to CTEPH. However, more than half of the CTEPH patients, especially the Japanese, do not have prior DVT or coagulation abnormality, suggesting that there should be other risk factors for CTEPH. Moreover, there are several reports on the association between CTEPH and human leukocyte antigen (HLA). To further clarify the HLA-linked gene(s) controlling the susceptibility to CTEPH, 160 patients (99 without DVT and 61 with DVT) and 380 healthy controls were analyzed for polymorphisms in 15 microsatellite markers and 5 genes in the HLA region. We found a strong association of HLA markers with the DVT-negative CTEPH, DPB1*0202 (odds ratio (OR)¼5.07, 95% confidence interval (CI)¼2.52-10.19, P¼0.00000075, corrected P-value (Pc)¼0.00014), IKBL-p*03 (OR¼2.33, 95% CI¼1.49-3.66, P¼0.00017, Pc¼0.033) and B*5201 (OR¼2.47, 95% CI¼1.56-3.90, P¼0.000086, Pc¼0.016), whereas no significant association was observed for the DVT-positive CTEPH. The comparison of clinical characteristics of patients stratified by the presence of susceptibility genes implied that the DPB1 gene controlled the severity of the vascular lesion, whereas the IKBL gene (NFKBIL1) was associated with a relatively mild phenotype.

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Section: Materials and Methods Subjectsmentioning

confidence: 99%

Section: Hla Typing and Microsatellite Marker Typingmentioning

confidence: 99%

HLA-DPB1 and NFKBIL1 may confer the susceptibility to chronic thromboembolic pulmonary hypertension in the absence of deep vein thrombosis

et al. 2009

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“…Table 3 shows previous reports on the relationship between HLA class II and AITD. The most probable HLA-DR and -DQ haplotypes were deduced from linkage disequilibria [8][9][10]. Alleles in parentheses following the reference number indicate that the reference reported susceptibility or resistance of the allele, but not the haplotype, to the disease.…”

Section: Aitdmentioning

confidence: 99%

“…Effect on T1D is classified as: S, susceptible; N, neutral; P, protective. These haplotypes are the major haplotypes which confer susceptibility to T1D in East Asians, especially in the Japanese population where the DR3 haplotype is absent and the DR4 haplotype is rare [8][9][10]. While these haplotypes encode Asp at position 57 of the DQβ1 chain, they confer susceptibility to T1D+AITD.…”

Section: Relationship Between T1d±aitd and Amino Acidmentioning

confidence: 99%

“…DRB1*15-DQB1*06:02 and DRB1*07:01-DQA1*02:01 (DR7) haplotypes confer strong protection against both T1D [2,3] and AITD [6,7]. However, in the Japanese population, the DR3 haplotype is absent, and the DR4 and DR7 haplotypes are rare [8][9][10], which may be more helpful for examining the susceptibility and resistance to T1D and AITD of HLA DR-DQ haplotypes, with the exception of DR3, DR4, and DR7. DR3 and DR4 haplotypes occur very frequently among Caucasian patients with T1D, and only a small percentage (approximately 10%) of Caucasian patients with T1D carry neither of these haplotypes [11,12].…”

Section: Introductionmentioning

confidence: 99%

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The Relationship Between Human Leukocyte Antigen Class II Genes and Type 1 Diabetes, Autoimmune Thyroid Diseases, and Autoimmune Polyendocrine Syndrome Type 3

Katahira¹

2014

HLA and Associated Important Diseases

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Human Leukocyte Antigen Class II Molecules Confer Both Susceptibility and Progression in Japanese Patients With Primary Biliary Cirrhosis

et al. 2012

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Along with twin and family studies, recent genome-wide association studies suggest that genetic factors contribute to the susceptibility and severity of primary biliary cirrhosis (PBC). Although several reports have demonstrated that the human leukocyte antigen (HLA) DRB1*08:03 allele is associated with disease susceptibility in Japan, the precise analysis of HLA haplotypes and the role of amino acid alignment have not been fully clarified. We investigated HLA class I A, B, and C and HLA class II DRB1 and DQB1 alleles and haplotypes in 229 Japanese patients with PBC and compared them with the published data of 523 healthy subjects. Significant associations were found with PBC susceptibility for the DRB1*08:03-DQB1*06:01 (13% versus 6%; P 5 0.000025; odds ratio [OR] 5 2.22) and DRB1*04:05-DQB1*04:01 haplotypes (17% versus 13%; P 5 0.044; OR 5 1.38). Conversely, there were significant protective associations with the DRB1*13:02-DQB1*06:04 (2% versus 5%; P 5 0.00093; OR 5 0.27) and DRB1*11:01-DQB1*03:01 haplotypes (1% versus 4%; P 5 0.03; OR 5 0.37). The frequency of the DRB1*09:01-DQB1*03:03 haplotype was significantly higher in patients who had received orthotopic liver transplantation (33% versus 11%; P 5 0.0012; OR 5 3.96). Furthermore, the frequency of serine at position 57 (P 5 0.0000015; OR 5 1.83) of the DRbchain differed the most in patients with PBC, compared with healthy subjects. Conclusion: This study established the role of HLA haplotypes in determining PBC susceptibility and progression in the Japanese population. Further resequencing of the HLA region is required to more precisely identify the genetic components of PBC. (HEPATOLOGY 2012;55:506-511)

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Analysis of HLA haplotypes in Japanese, using high resolution allele typing

Cited by 55 publications

References 17 publications

HLA-DPB1 and NFKBIL1 may confer the susceptibility to chronic thromboembolic pulmonary hypertension in the absence of deep vein thrombosis

HLA-DPB1 and NFKBIL1 may confer the susceptibility to chronic thromboembolic pulmonary hypertension in the absence of deep vein thrombosis

The Relationship Between Human Leukocyte Antigen Class II Genes and Type 1 Diabetes, Autoimmune Thyroid Diseases, and Autoimmune Polyendocrine Syndrome Type 3

Human Leukocyte Antigen Class II Molecules Confer Both Susceptibility and Progression in Japanese Patients With Primary Biliary Cirrhosis

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