Nomenclature for factors of the HLA system 1984

Bodmer, Walter F.; Albert, E. D.; Bodmer, JG; Dausset, J; Kissmeyer-Nielsen, F; Mayr, Wolfgang R.; Payne, Rose; Rood, Jon J. van; Trnka, Z.; Walford, Roy L.

doi:10.1007/bf00430318

Cited by 31 publications

(16 citation statements)

References 2 publications

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“…First, the serotypings were performed during a time when the Ninth HLA Workshop typing reagents were available. Second, although more detailed than prior workshops, the Tenth HLA Workshop nomenclature (30) years, patients free of renal disease but diagnosed as having SLE for fewer than 5 years were excluded from the nonrenal SLE patient subset; therefore, the total number of patients studied (n = 118) is greater than the sum of the renal and nonrenal SLE patient subsets (n = 105). The rare DQP allele I.AZH was significantly increased in the renal disease group compared with that in the nonrenal group (24.6% versus 5.6%; RR = 5.6, P = 0.01).…”

Section: Methodsmentioning

confidence: 99%

“…Our examination of these genes and their products by protein analysis, nucleotide sequencing, and nucleotide SSO probing has revealed that the DQP allele 1 .AZH, which is associated with the DR2(DRw16), DwAZH(Dw21),DQwl(DQwS) haplotype (updated HLA nomenclature [30] is shown in parentheses) confers a significant risk for lupus nephritis. DR4 was significantly decreased in SLE patients with nephritis, compared with its frequency in SLE patients without kidney disease and compared with normal control subjects.…”

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confidence: 99%

“…Assuming the conservative estimate of the haplotype frequency for DQPl .AZH as -1% in the Caucasian population ( 12,4&50), the difference still yields a relative risk of 14.3 and a P value of 0.005.Half of the white SLE patients with nephritis had the DQPl. 1, I .AZH, or I .9 alleles that share the first (amino acid positions[26][27][28][29][30] and third (amino acids 66-75) hypervariable regions in the DQP first…”

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Major histocompatibility complex genes and susceptibility to systemic lupus erythematosus

Fronek

Timmerman

Alper

et al. 1990

Arthritis & Rheumatism

112

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Susceptibility to systemic lupus erythematosus is associated with major histocompatibility complex (MHC)-encoded genes. We have used nucleotide sequence analysis to better define the disease-associated MHC alleles. HLA-DR2, DQwl, and especially the rare allele DQPl.AZH confer high relative risk (RR = 14) for lupus nephritis in a Caucasian population of patients. Pilot studies using historical controls suggest that these genes also confer a high risk in non-Caucasian ethnic groups (RR = 24-78). We have found that DR4 is significantly decreased in patients with lupus nephritis. Fifty percent of the patients with lupus nephritis had either the DQP1.1, the DQPl.AZH, or the DQP1.9 alleles. These alleles share amino acid residues that have been predicted to be the contact points for antigen and the T cell receptor. These HLA alleles appear to have a direct role in the predisposition to lupus nephritis, whereas DR4 may have a "protective" effect.Systemic lupus erythematosus (SLE) is a complex autoimmune disorder that involves the skin, joints, serosal surface, kidneys, central nervous system, and blood elements. It is characterized by abnormalities in B cell activation, with resultant autoantibody production, and by dysregulation of T cells, the complement cascade, and the clearing of immune complexes. Genetic factors in SLE have been implicated by results of studies of family aggregation of the disease ( l ) , increased concordance of SLE among monozygotic versus dizygotic twins (2), Gm markers (3), decreased red cell CRl receptors (4), abnormal T cell suppressor function in healthy relatives of SLE patients (3, and associations with several major histocompatibility complex (MHC) loci (summarized in refs. 6 and 7).Population studies have shown an increased association between SLE and class I1 MHC DR2 and/or DR3 antigen alleles, as well as an association with class 111 MHC C2 and C4A deficiencies (8,9). The strengths of these associations vary from study to study, and they can vary in ethnically different populations (7-10). The relative risk (RR) of SLE in a person positive for any 1 of these markers has been reported to be 3 or less. However, the RR is significantly increased if multiple alleles are present, such as homozygosity of C4A null (RR = 16) or C4A null and DR2 (RR = 25) (9), which supports the notion that susceptibility to this disease may be polygenic. The class 11 loci of the human major histocompatibility complex encode the HLA-D cell-surface

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Section: Methodsmentioning

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Major histocompatibility complex genes and susceptibility to systemic lupus erythematosus

Fronek

Timmerman

Alper

et al. 1990

Arthritis & Rheumatism

112

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“…A third specificity belonging to the A10 group was described later and named A34 in 1975 [8 -10]. In 1983, a Dutch group described another split of the A10 antigen, later named A66 [11,12]. Thirty-eight different A10 subtypes are known, giving rise to 36 different proteins.…”

Section: Introductionmentioning

confidence: 97%

Sequence-Based Typing of the HLA-A10/A19 Group and Confirmation of a Pseudogene Coamplified With A*3401

2005

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“…The four colon-delimited field nomenclature for HLA alleles developed in step with genotyping technologies, as greater insights into the nature and scope of HLA polymorphism became available[4, 8–12]. While it provides insight into the types of polymorphism that distinguish alleles, this nomenclature does not identify the patterns and location of polymorphism across GFs at a given locus; the extent of the nucleotide sequence represented by an HLA allele name cannot be inferred from that name.…”

Section: Introductionmentioning

confidence: 99%

A gene feature enumeration approach for describing HLA allele polymorphism

Mack¹

2015

Human Immunology

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HLA genotyping via next generation sequencing (NGS) poses challenges for the use of HLA allele names to analyze and discuss sequence polymorphism. NGS will identify many new synonymous and non-coding HLA sequence variants. Allele names identify the types of nucleotide polymorphism that define an allele (non-synonymous, synonymous and non-coding changes), but do not describe how polymorphism is distributed among the individual features (the flanking untranslated regions, exons and introns) of a gene. Further, HLA alleles cannot be named in the absence of antigen-recognition domain (ARD) encoding exons. Here, a system for describing HLA polymorphism in terms of HLA gene features (GFs) is proposed. This system enumerates the unique nucleotide sequences for each GF in an HLA gene, and records these in a GF enumeration notation that allows both more granular dissection of allele-level HLA polymorphism and the discussion and analysis of GFs in the absence of ARD-encoding exon sequences.

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Nomenclature for factors of the HLA system 1984

Cited by 31 publications

References 2 publications

Major histocompatibility complex genes and susceptibility to systemic lupus erythematosus

Major histocompatibility complex genes and susceptibility to systemic lupus erythematosus

Sequence-Based Typing of the HLA-A10/A19 Group and Confirmation of a Pseudogene Coamplified With A*3401

A gene feature enumeration approach for describing HLA allele polymorphism

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