Recent divergence of the HLA-DRB1*04 allelic lineage from the DRB1*0701 lineage after the separation of the human and chimpanzee species

Hohjoh, Hirohiko; Ohashi, Jun; Takasu, Masako; Nishioka, Tomoki; Ishida, Takafumi; Tokunaga, Katsushi

doi:10.1007/s00251-003-0539-z

Cited by 12 publications

(8 citation statements)

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“…The dissociation of DRB3 and DRB4 effects has been reported in other malignancies [Barger et al, 1982;Dorak et al, 1994] including malespecific effects in childhood leukemia [Dorak et al, 1999[Dorak et al, , 2002b. Because these two gene families represent evolutionarily divergent MHC lineages [Svensson and Andersson, 1997;Hohjoh et al, 2003], the DRB4 and DRB3 associations found here may reflect their opposing effects on the immune activity. A previously unappreciated nonspecific immune downmodulation associated with DRB4 haplotypes could explain the protective association with HIV-KS.…”

Section: Discussionsupporting

confidence: 72%

HLA-B, -DRB1/3/4/5, and -DQB1 gene polymorphisms in human immunodeficiency virus-related Kaposi's sarcoma

et al. 2005

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Polymorphisms of genes in the human leukocyte antigen (HLA) complex, particularly those encoding HLA-DR, have been suggested as markers of susceptibility to Kaposi's sarcoma (KS). We conducted a case-control study comparing 147 homosexual men who developed KS after infection by human immunodeficiency virus-1 (HIV-1) and human herpes virus 8 (HHV8) with 147 matched dually infected men without HIV-associated KS (HIV-KS) from the Multicenter AIDS Cohort Study. HLA-B, DRB1, DRB3, DRB4, DRB5, and DQB1 polymorphisms were examined by high-resolution DNA-based methods. Differences in distributions of genetic variants were tested by conditional logistic regression. Previously reported relationships with HLA-DRB1 alleles could not be confirmed. Instead, other associations were observed. In univariate analysis, KS was weakly associated with B*2702/5 (odds ratio (OR)=0.40, 95% confidence interval (CI)=0.18-0.91). Similar or stronger associations, positive or negative, were seen for haplotypes containing class II alleles: DRB1*1302-DQB1*0604 (OR=3.67, 95% CI=1.02-13.1), DRB4 (DR53) haplotype family members [OR=0.52, 95% CI=0.32-0.85], and DRB3 (DR52) haplotype family members (OR=1.69, 95% CI=1.07-2.67). The B*1402-DRB1*0102 haplotype, which invariably contains the V281L mutation in the 21-hydroxylase gene governing adrenal steroid biosynthesis, occurred in five cases and one control (OR=5.0, 95% CI=0.58-42.8). In a final multivariable analysis, only DRB1*1302-DQB1*0604 (OR=6.43, 95% CI=1.28-32.3, P=0.02) remained significantly associated with KS. Associations of HLA-DRB families with HIV-KS could reflect underlying immune dysregulation. The HLA B*1402-DRB1*0102 haplotype associated with increased risk of KS might represent an antigen-presenting pathway unfavorable for immune response to HHV8. Alternatively, the relationship might hold a clue to the predilection of KS for men because that haplotype harbors the mutant form of the 21-hydroxylase gene.

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Section: Discussionsupporting

confidence: 72%

HLA-B, -DRB1/3/4/5, and -DQB1 gene polymorphisms in human immunodeficiency virus-related Kaposi's sarcoma

et al. 2005

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“…The final allele assignments for the three HLA class II genes considered two major functional properties. First, allele groups defined by the first two-digit designations (e.g., DRB1*01) often correspond to serological specificities (as alloantigens) (Schreuder et al 2005 ) or shared motifs and lineages (Agrawal et al 2007 ; Bergstrom et al 1999 ; Dorak et al 2006 ; Hohjoh et al 2003 ). Second, alleles with four-digit designations (e.g., DRB1*0101, *0102, and *0103) define functional units that differ in amino acid sequences and the protein structure.…”

Section: Methodsmentioning

confidence: 99%

Clear and independent associations of several HLA-DRB1 alleles with differential antibody responses to hepatitis B vaccination in youth

Song

et al. 2009

Hum Genet

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To conWrm and reWne associations of human leukocyte antigen (HLA) genotypes with variable antibody (Ab) responses to hepatitis B vaccination, we have analyzed 255 HIV-1 seropositive (HIV + ) youth and 80 HIV-1 seronegatives (HIV ¡ ) enrolled into prospective studies. In univariate analyses that focused on HLA-DRB1, -DQA1, and -DQB1 alleles and haplotypes, the DRB1*03 allele group and DRB1*0701 were negatively associated with the responder phenotype (serum Ab concentration¸10 mIU/mL) (P = 0.026 and 0.043, respectively). Collectively, DRB1*03 and DRB1*0701 were found in 42 (53.8%) out of 78 non-responders (serum Ab <10 mIU/mL), 65 (40.6%) out of 160 medium responders (serum Ab 10-1,000 mIU/ mL), and 27 (27.8%) out of 97 high responders (serum Ab >1,000 mIU/mL) (P < 0.001 for trend). Meanwhile, DRB1*08 was positively associated with the responder phenotype (P = 0.010), mostly due to DRB1*0804 (P = 0.008). These immunogenetic relationships were all independent of nongenetic factors, including HIV-1 infection status and immunodeWciency. Alternative analyses conWned to HIV + youth or Hispanic youth led to similar Wndings. In contrast, analyses of more than 80 non-coding, single nucleotide polymorphisms within and beyond the three HLA class II genes revealed no clear associations. Overall, several HLA-DRB1 alleles were major predictors of diVerential Ab responses to hepatitis B vaccination in youth, suggesting that T-helper cell-dependent pathways mediated through HLA class II antigen presentation are critical to eVective immune response to recombinant vaccines.

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“…Analyses of the effects of genes in the 6p21.3 region are also complicated by strong linkage disequilibrium in this region (Blomhoff et al , 2006), such that it is difficult to ascribe phenotypic effects to particular alleles, and also by evidence for recent positive selection at this locus for some human populations (Raymond et al , 2005; Windsor et al , 2005; Voight et al , 2006). Moreover, phylogenetic analyses of the suite of alleles at HLA‐DRB1 indicates that this locus has diversified very recently compared to other class II HLA loci (which generally predate the chimpanzee‐human split)(von Salomé, Gyllensten & Bergström, 2007), and DR4 has evolved very recently (within the past 250,000 years), with its allelic variants evolving especially rapidly (Bergström et al , 1998; Hohjoh et al , 2003).…”

Section: Polygenic Effects: Genome Scan and Genetic Association Datamentioning

confidence: 99%

Genomic imprinting in the development and evolution of psychotic spectrum conditions

Crespi

2008

Biological Reviews

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I review and evaluate genetic and genomic evidence salient to the hypothesis that the development and evolution of psychotic spectrum conditions have been mediated in part by alterations of imprinted genes expressed in the brain. Evidence from the genetics and genomics of schizophrenia, bipolar disorder, major depression, Prader-Willi syndrome, Klinefelter syndrome, and other neurogenetic conditions support the hypothesis that the etiologies of psychotic spectrum conditions commonly involve genetic and epigenetic imbalances in the effects of imprinted genes, with a bias towards increased relative effects from imprinted genes with maternal expression or other genes favouring maternal interests. By contrast, autistic spectrum conditions, including Kanner autism, Asperger syndrome, Rett syndrome, Turner syndrome, Angelman syndrome, and Beckwith-Wiedemann syndrome, commonly engender increased relative effects from paternally expressed imprinted genes, or reduced effects from genes favouring maternal interests. Imprinted-gene effects on the etiologies of autistic and psychotic spectrum conditions parallel the diametric effects of imprinted genes in placental and foetal development, in that psychotic spectrum conditions tend to be associated with undergrowth and relatively-slow brain development, whereas some autistic spectrum conditions involve brain and body overgrowth, especially in foetal development and early childhood. An important role for imprinted genes in the etiologies of psychotic and autistic spectrum conditions is consistent with neurodevelopmental models of these disorders, and with predictions from the conflict theory of genomic imprinting.

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Recent divergence of the HLA-DRB104 allelic lineage from the DRB10701 lineage after the separation of the human and chimpanzee species

Cited by 12 publications

References 10 publications

HLA-B, -DRB1/3/4/5, and -DQB1 gene polymorphisms in human immunodeficiency virus-related Kaposi's sarcoma

HLA-B, -DRB1/3/4/5, and -DQB1 gene polymorphisms in human immunodeficiency virus-related Kaposi's sarcoma

Clear and independent associations of several HLA-DRB1 alleles with differential antibody responses to hepatitis B vaccination in youth

Genomic imprinting in the development and evolution of psychotic spectrum conditions

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