RGD Reference Report - Increased occurrence of anti-AQP4 seropositivity and unique HLA Class II associations with neuromyelitis optica (NMO), among Muslim Arabs in Israel. - Rat Genome Database

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Increased occurrence of anti-AQP4 seropositivity and unique HLA Class II associations with neuromyelitis optica (NMO), among Muslim Arabs in Israel.

Authors: Brill, L  Mandel, M  Karussis, D  Petrou, P  Miller, K  Ben-Hur, T  Karni, A  Paltiel, O  Israel, S  Vaknin-Dembinsky, A 
Citation: Brill L, etal., J Neuroimmunol. 2016 Apr 15;293:65-70. doi: 10.1016/j.jneuroim.2016.02.006. Epub 2016 Feb 15.
RGD ID: 11530523
Pubmed: PMID:27049564   (View Abstract at PubMed)
DOI: DOI:10.1016/j.jneuroim.2016.02.006   (Journal Full-text)

BACKGROUND: Previous studies have revealed different human leukocyte antigen (HLA) associations in multiple sclerosis (MS) and neuromyelitis optica (NMO), further discriminating these two demyelinating pathological conditions. In worldwide analyses, NMO and opticospinal MS are represented at higher proportions among demyelinating conditions in African, East-Asian and Latin American populations. There are currently no data regarding the prevalence of NMO in Middle East Muslims. The population in Israel is diverse in many ways, and includes subpopulations, based on religion and ethnicity; some exhibit genetic homogeneity. In Israel, the incidence of MS is lower in the Muslim population than the Jewish population and Muslims carry different allele frequency distribution of HLA haplotypes. OBJECTIVE: To evaluate the occurrence of anti-AQP4 seropositivity in the Israeli Muslim population among patients with central nervous system (CNS) demyelinating conditions; and to identify the HLA DR and DQ profiles of Muslim Arab Israeli patients with NMO spectrum of diseases (NMOSD). METHODS: The prevalence of anti-AQP4 seropositivity was analyzed in 342 samples, obtained from patients with various CNS demyelinating conditions and in a validation set of 310 samples. HLA class II alleles (HLA-DRB1 and DQB1) were examined in DNA samples from 35 Israeli Muslim Arabs NMO patients and compared to available data from 74 Israeli Muslim controls. RESULTS: Our data reveal a significantly increased prevalence of anti-AQP4 seropositivity, indicative of NMOSD, in Muslim Arab Israeli patients with initial diagnosis of a CNS demyelinating syndrome. In this population, there was a positive association with the HLA-DRB1*04:04 and HLA-DRB1*10:01 alleles (p=0.03), and a strong negative association with the HLA-DRB1*07 and HLA-DQB1*02:02 alleles (p=0.003, p=0.002). CONCLUSIONS: Our findings indicate a possibly increased prevalence of NMOSD in Muslim Arabs in Israel with distinct (positive and negative) HLA associations. Further studies in patients with similar genetic backgrounds worldwide could help to confirm our findings and identify more genetic susceptibility factors for NMO, contributing to our general understanding of the pathogenesis of NMOSD.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
H2-Ab1Mouseneuromyelitis optica susceptibilityISOHLA-DQB1 (Homo sapiens)DNA:polymorphism:: HLA-DQB1*02:02 (human)RGD 
H2-Eb1Mouseneuromyelitis optica susceptibilityISOHLA-DRB1 (Homo sapiens)DNA:polymorphism:: HLA-DRB1*04:04 more ...RGD 
HLA-DQB1Humanneuromyelitis optica susceptibilityIAGP DNA:polymorphism:: HLA-DQB1*02:02 (human)RGD 
HLA-DRB1Humanneuromyelitis optica susceptibilityIAGP DNA:polymorphism:: HLA-DRB1*04:04 more ...RGD 
RT1-BbRatneuromyelitis optica susceptibilityISOHLA-DQB1 (Homo sapiens)DNA:polymorphism:: HLA-DQB1*02:02 (human)RGD 
RT1-Db1Ratneuromyelitis optica susceptibilityISOHLA-DRB1 (Homo sapiens)DNA:polymorphism:: HLA-DRB1*04:04 more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
RT1-Bb  (RT1 class II, locus Bb)
RT1-Db1  (RT1 class II, locus Db1)

Genes (Mus musculus)
H2-Ab1  (histocompatibility 2, class II antigen A, beta 1)
H2-Eb1  (histocompatibility 2, class II antigen E beta)

Genes (Homo sapiens)
HLA-DQB1  (major histocompatibility complex, class II, DQ beta 1)
HLA-DRB1  (major histocompatibility complex, class II, DR beta 1)


Additional Information