HLA -A, -C, -B, -DRB1, -DQB1 and -DPB1 allele and haplotype frequencies in 4514 healthy Norwegians

Lande, Asgeir; Andersen, Inger Grete Krogh; Egeland, Torstein; Lie, Benedicte A.; Viken, Marte K.

doi:10.1016/j.humimm.2018.04.012

Cited by 19 publications

(18 citation statements)

References 157 publications

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“…Wennerstr€ om et al [48] reported extended DRB1 (HLA class II) haplotypes from a Finnish population sample of 150 individuals in 2013. More recently, Norwegian and Russian Karelian 6-locus haplotype frequencies were reported [47,49]. To our knowledge, no studies on the strength of the linkage disequilibrium between 5-locus HLA haplotypes and DPB1 have been published.…”

Section: Discussionmentioning

confidence: 99%

“…In connection with AH 8.1, the frequency of DPB1*01:01 was .26 in the United Kingdom and .34 in Germany, whereas the average DPB1*01:01 frequencies in these populations were .08 and .04 to .05 respectively [46]. Similarly, for AH 35.2 the frequency of DPB1*04:02 was greater than .4 in Germany, Britain, Poland, and Sweden, the frequency thus being 4-to 10-fold compared with the average frequency of DPB1*04:02 in these countries [46], and DPB1*05:01 was 5to 6-fold over-represented in connection with AH 7.1 in the United Kingdom, Germany, and Norway [47]. The results indicate that all DPB1 associations described in this study are not unique to Finland.…”

Section: Dpb1 Associations In Other Populationsmentioning

confidence: 99%

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Extended HLA Haplotypes and Their Impact on DPB1 Matching of Unrelated Hematologic Stem Cell Transplant Donors

Linjama

Räther

Ritari

et al. 2019

Biology of Blood and Marrow Transplantation

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Although HLA-DPB1 has long been considered of lesser importance in the selection of an unrelated donor (URD) hematologic stem cell transplantation, currently in many instances the DPB1 type of the donor is relevant or even critical. At present, however, only a minority of registry donors are DPB1 typed. It is also unclear to what extent the DPB1 alleles are linked to the 5-locus HLA-A-, B-, C-, DRB1,-DQB1 haplotypes. We sought to study whether there is such a linkage by using donors in the Finnish Stem Cell Registry as the study population. The 6-locus HLA-A,-B,-C,-DRB1,-DQB1,-DPB1 haplotype frequencies were estimated from a group of 43,365 Finnish registry donors using the German National Bone Marrow Registry algorithm. Five-locus haplotype (HLA-A,-B,-C,-DRB1,-DQB1) and HLA-DPB1 allele frequencies were calculated as marginal frequencies of the estimated 6-locus haplotype frequencies. The Finnish average frequency of individual DPB1 alleles was compared with their respective frequencies in association with individual 5-locus HLA haplotypes (haplotype-specific frequencies). Finally, the probability of DPB1 matching in 10/10 matched URD transplants was assessed. Haplotype-specific DPB1 frequencies differed significantly from the average DPB1 frequencies in 81 of 100 most frequent Finnish 5-locus HLA haplotypes, including some infrequent DPB1 alleles that were associated almost exclusively with certain individual 5-locus haplotypes. Five-locus haplotypes that are enriched in Finland but rare among other Europeans carried stronger DPB1 associations than haplotypes that are frequent European-wide. Finally, 10/10 matched transplants from domestic registry donors were significantly more likely to also be DPB1 matched than those from foreign donors. The results indicate an extension of linkage disequilibrium in the MHC complex in the Finnish population. With continuing upfront DPB1 typing of registry donors, it will be possible to perform similar extended 6-locus haplotype frequency estimations also in other registries. The associations are likely to be population specific but may be weaker in more heterogeneous populations. In the future the results might be used to predict the probability of DPB1 match or permissive/ nonpermissive DPB1 mismatch for non-DPB1 typed donors in registry donor searches.

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Section: Discussionmentioning

confidence: 99%

Section: Dpb1 Associations In Other Populationsmentioning

confidence: 99%

Extended HLA Haplotypes and Their Impact on DPB1 Matching of Unrelated Hematologic Stem Cell Transplant Donors

Linjama

Räther

Ritari

et al. 2019

Biology of Blood and Marrow Transplantation

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“…The median sequencing depth was above 150 reads per called base. The 4511 healthy Norwegian controls had previously been HLA typed by NGS 52 . Both patient and control genotypes were analyzed at 2nd field resolution for HLA -A, -B, -C, -DRB1, -DQB1 and -DPB1.…”

Section: Methodsmentioning

confidence: 99%

Human Leukocyte Antigen alleles associated with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS)

Lande

Fluge

Strand

et al. 2020

Sci Rep

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the etiology and pathogenesis of Myalgic encephalomyelitis/chronic fatigue Syndrome (Me/cfS) are unknown, and autoimmunity is one of many proposed underlying mechanisms. Human Leukocyte Antigen (HLA) associations are hallmarks of autoimmune disease, and have not been thoroughly investigated in a large ME/CFS patient cohort. We performed high resolution HLA -A, -B, -C, -DRB1, -DQB1 and -DPB1 genotyping by next generation sequencing in 426 adult, Norwegian ME/CFS patients, diagnosed according to the Canadian Consensus Criteria. HLA associations were assessed by comparing to 4511 healthy and ethnically matched controls. Clinical information was collected through questionnaires completed by patients or relatives. We discovered two independent HLA associations, tagged by the alleles HLA-C*07:04 (OR 2.1 [95% CI 1.4-3.1]) and HLA-DQB1*03:03 (OR 1.5 [95% CI 1.1-2.0]). These alleles were carried by 7.7% and 12.7% of ME/CFS patients, respectively. The proportion of individuals carrying one or both of these alleles was 19.2% in the patient group and 12.2% in the control group (OR 1.7 [95% CI 1.3-2.2], p nc = 0.00003). ME/CFS is a complex disease, potentially with a substantial heterogeneity. We report novel HLA associations pointing toward the involvement of the immune system in ME/CFS pathogenesis.Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a disabling disorder characterized by medically unexplained fatigue, post-exertional malaise and a variety of additional symptoms, such as chronic pain, sleep disturbances and cognitive difficulties. ME/CFS is diagnosed on clinical grounds alone, and different sets of criteria specify the mandatory symptoms as well as recommendations for the exclusion of differential diagnoses 1-3 . The specificity and validity of different diagnostic criteria have been questioned, yet there is no agreement on the level of heterogeneity in ME/CFS, and there is no consensus on how to categorize different subgroups 4-8 .The pathogenesis and etiology of ME/CFS are unknown, with several models having been proposed 9 . One central hypothesis states that autoimmunity is part of the pathophysiology 10,11 . ME/CFS has been reported to be partly heritable 12,13 , consistent with a multifactorial etiology dependent on both genetic and environmental factors. This is the prevailing model for a vast number of diseases, including established autoimmune diseases (AID). Several publications report immunological alterations among ME/CFS patients, e.g. changes in natural killer (NK) cell function 14,15 , cytokine levels 16,17 , and DNA methylation patterns consistent with immune dysregulation 18 . Some of these findings have failed to reproduce in other studies, which could be due to differences in methodology, the complexity and heterogeneity of ME/CFS, and lack of power due to small sample sizes 19 . Resultingly, the autoimmunity hypothesis warrants further evaluation. A characteristic feature of AID is genetic association with certain human leukocyte antigen (HLA) alleles 20 . Thus, a thorough inve...

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“…The frequency of different HLA‐DR‐DQ haplotypes in the Norwegian population is known from typing by the Norwegian Bone Marrow Registry 15,17,19 . We have focused on the most common haplotypes.…”

Section: Discussionmentioning

confidence: 99%

The prevalence of HPA‐1a alloimmunization and the potential risk of FNAIT depend on both the DRB301:01* allele and associated DR‐DQ haplotypes

et al. 2020

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Alloimmunization against human platelet antigen (HPA)‐1a during pregnancy can cause foetal/neonatal alloimmune thrombocytopenia (FNAIT) and severe bleeding in the foetus or newborn and likely depends on several factors. HPA‐1a alloimmunization is associated with DRB3*01:01, which is associated with several DR‐DQ haplotypes. However, it is not known to what extent these haplotypes contribute to the prevalence of HPA‐1a alloimmunization. HPA‐1a–alloimmunized women, identified in a prospective study, and random donors were typed for selected DRB3, DRB4, DRB1, DQA1 and DQB1 alleles to determine allele and DR‐DQ haplotype frequencies. DRB3*01:01 was carried by 94% HPA‐1a–immunized women compared to 27% in the general population. In the first population, the DR3‐DQ2 haplotype was overrepresented (P < .003). The prevalence of HPA‐1a alloimmunization was estimated to be about twice as frequent with DR3‐DQ2 compared to DR13‐DQ6, together accounting for about 90% of DRB3*01:01–positive individuals. Further, we examined DQB1*02 and DRB4*01:01 alleles for their reported association with HPA‐1a alloimmunization, in the context of DR‐DQ haplotypes. Since ~ 80% of DQB1*02 alleles are linked to the DR3‐DQ2 haplotype, the association might be coincidental. However, the DQB1*02:02–associated DR7‐DQ2 haplotype was also overrepresented in alloimmunized women, suggesting a role for this allele or haplotype in HPA‐1a alloimmunization. As DRB4*01:01 is predominantly associated with the DR7‐DQ2 haplotype in HPA‐1a–alloimmunized individuals, the reported association with FNAIT may be coincidental. Typing for DR‐DQ haplotypes revealed important genetic associations with HPA‐1a alloimmunization not evident from typing individual alleles, and the presence of different DRB3‐associated DR‐DQ haplotypes showed different prevalence of HPA‐1a alloimmunization.

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HLA -A, -C, -B, -DRB1, -DQB1 and -DPB1 allele and haplotype frequencies in 4514 healthy Norwegians

Cited by 19 publications

References 157 publications

Extended HLA Haplotypes and Their Impact on DPB1 Matching of Unrelated Hematologic Stem Cell Transplant Donors

Extended HLA Haplotypes and Their Impact on DPB1 Matching of Unrelated Hematologic Stem Cell Transplant Donors

Human Leukocyte Antigen alleles associated with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS)

The prevalence of HPA‐1a alloimmunization and the potential risk of FNAIT depend on both the DRB301:01* allele and associated DR‐DQ haplotypes

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HLA -A, -C, -B, -DRB1, -DQB1 and -DPB1 allele and haplotype frequencies in 4514 healthy Norwegians

Cited by 19 publications

References 157 publications

Extended HLA Haplotypes and Their Impact on DPB1 Matching of Unrelated Hematologic Stem Cell Transplant Donors

Extended HLA Haplotypes and Their Impact on DPB1 Matching of Unrelated Hematologic Stem Cell Transplant Donors

Human Leukocyte Antigen alleles associated with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS)

The prevalence of HPA‐1a alloimmunization and the potential risk of FNAIT depend on both the DRB3*01:01 allele and associated DR‐DQ haplotypes

Contact Info

Product

Resources

About

The prevalence of HPA‐1a alloimmunization and the potential risk of FNAIT depend on both the DRB301:01* allele and associated DR‐DQ haplotypes