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

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