DQB1*0602 and DQA1*0102 (DQ1) Are Better Markers Than DR2 for Narcolepsy in Caucasian and Black Americans

Mignot, Emmanuel; Lin, Xiaoyan; Arrigoni, Janis; Macaubas, Claudia; Olive, F. Temple; Hallmayer, Joachim; Underhill, Peter A.; Guilleminault, Christian; Dement, William C.; Grumet, F. Carl

doi:10.1093/sleep/17.suppl_8.s60

Cited by 190 publications

(107 citation statements)

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“…Although most populations had strong to complete LD between these SNPs, studies of Africans separated the effects of individual SNPs because of the reduced LD in this group. Similarly, Mignot et al identified DQB1*0602 as the functional HLA allele associated with susceptibility to narcolepsy by studying Africans, who were the only population in which LD between the DQB1*0602 and DR2 alleles was incomplete [52].…”

Section: Methodological Advantages Of Studying Genetics In Racially Amentioning

confidence: 99%

Race, Ethnicity and Social Class and the Complex Etiologies of Asthma

2008

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SummaryAsthma is a common but complex respiratory disease caused by the interaction of genetic and environmental factors. Significant racial and ethnic disparities in prevalence, mortality, and drug response have been described. These disparities may be explained by racial and ethnic-specific variation in genetic, environmental, social and psychological risk factors. In addition, race, ethnicity, and social class are important proxies for unmeasured factors that influence health outcomes. Herein, we review salient differences in the etiologies of asthma by race, ethnicity and social class, and argue for their continued use as variables in asthma research.

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Section: Methodological Advantages Of Studying Genetics In Racially Amentioning

confidence: 99%

Race, Ethnicity and Social Class and the Complex Etiologies of Asthma

2008

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“…7 There is a significant association of narcolepsy with the DQB1*0602 allele of the major histocompatibility complex (HLA). The prevalence rate of HLA-DQB1*0602 is 88% to 98% in the narcoleptic population with cataplexy, 40% to 60% in the narcoleptic population without cataplexy, and 12% to 34% in the general population [8][9][10][11][12][13] (Table 1). In the southeastern population of Brazil, the prevalence of HLA-DQB1*0602 is 13.6% among Caucasians 14 and 14.30% in Mulattos.…”

Section: Genetics Of Narcolepsymentioning

confidence: 99%

“…7,12,13,73 However, the presence of this allele is not a sufficient or necessary factor for the development of narcolepsy. 7,73 In the general population, the prevalence of the HLA-DQB1*0602 antigen varies between 12% and 34% 8,14,15 ( Table 1).…”

Section: 72mentioning

confidence: 99%

Diretrizes brasileiras para o diagnóstico de narcolepsia

Alóe

Alves

Araújo

et al. 2010

Rev. Bras. Psiquiatr.

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Este artigo relata as conclusões da reunião de consenso com médicos especialistas sobre diagnóstico de narcolepsia baseada na revisão dos artigos sobre narcolepsia listados no Medline entre 1980 e 2010. A narcolepsia é uma doença crônica de início entre a primeira e segunda décadas de vida do indivíduo. Os sintomas essenciais são cataplexia e sonolência excessiva. A cataplexia é definida como episódios súbitos, recorrentes e reversíveis de fraqueza da musculatura esquelética desencadeados por situações de conteúdo emocional. Os sintomas acessórios são alucinações hipnagógicas, paralisia do sono e sono fragmentado. Critérios de diagnóstico clínico de acordo com a Classificação Internacional dos Transtornos do Sono são de sonolência excessiva e cataplexia. Recomenda-se a realização de polissonografia seguida do teste de latência múltipla do sono em um laboratório de sono para confirmação e diagnóstico de comorbidades. Quando não houver cataplexia, deve haver duas ou mais sonecas com sono REM no teste de latência múltipla do sono. Tipagem HLA-DQB1*0602 positiva com níveis de hipocretina-1 abaixo de 110pg/mL devem estar presentes para o diagnóstico de narcolepsia sem cataplexia e sem sonecas com sono REM.

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“…Epistasis among HLA-DRB1, HLA-DQA1 and HLA-DQB1 loci has been shown to influence MS risk. [94][95][96][97][98]179 Narcolepsy HLA-DQB1*0602 HLA-DQB1*06011associated with protection [180][181][182] Rheumatoid arthritis Figure 1 Genes and genetic diversity in the MHC class II region. The classical MHC class I, class III and class II regions are shown together with a higher resolution plot showing the location of genes within the MHC class II region chr6:32 250 000-33 300 000 (hg18 build 36.1).…”

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confidence: 99%

Regulation of major histocompatibility complex class II gene expression, genetic variation and disease

et al. 2009

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Major histocompatibility complex (MHC) class II molecules are central to adaptive immune responses and maintenance of selftolerance. Since the early 1970s, the MHC class II region at chromosome 6p21 has been shown to be associated with a remarkable number of autoimmune, inflammatory and infectious diseases. Given that a full explanation for most MHC class II disease associations has not been reached through analysis of structural variation alone, in this review we examine the role of genetic variation in modulating gene expression. We describe the intricate architecture of the MHC class II regulatory system, indicating how its unique characteristics may relate to observed associations with disease. There is evidence that haplotypespecific variation involving proximal promoter sequences can alter the level of gene expression, potentially modifying the emergence and expression of key phenotypic traits. Although much emphasis has been placed on cis-regulatory elements, we also examine the role of more distant enhancer elements together with the evidence of dynamic inter-and intra-chromosomal interactions and epigenetic processes. The role of genetic variation in such mechanisms may hold profound implications for susceptibility to common disease.

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DQB10602 and DQA10102 (DQ1) Are Better Markers Than DR2 for Narcolepsy in Caucasian and Black Americans

Cited by 190 publications

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Race, Ethnicity and Social Class and the Complex Etiologies of Asthma

Race, Ethnicity and Social Class and the Complex Etiologies of Asthma

Diretrizes brasileiras para o diagnóstico de narcolepsia

Regulation of major histocompatibility complex class II gene expression, genetic variation and disease

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