Abstract
Neuromyelitis Optica and Multiple Sclerosis are idiopathic inflammatory demyelinating diseases of the central nervous system that currently are considered distinct autoimmune diseases, so differences in genetic susceptibility would be expected. This study aimed to investigate the HLA association with Neuromyelitis Optica by a systematic review with meta-analysis. The STROBE instrument guided research paper assessments. Thirteen papers published between 2009 and 2020 were eligible. 568 Neuromyelitis Optica patients, 41.4% Asians, 32.4% Latin Americans and 26.2% Europeans were analyzed. Only alleles of the DRB1 locus were genotyped in all studies. Neuromyelitis Optica patients have 2.46 more chances of having the DRB1*03 allelic group than controls. Ethnicity can influence genetic susceptibility. The main HLA association with Neuromyelitis Optica was the DRB1*03:01 allele in Western populations and with the DPB1*05:01 allele in Asia. Differences in the Multiple Sclerosis and Neuromyelitis Optica genetic susceptibility was confirmed in Afro descendants. The DRB1*03 allelic group associated with Neuromyelitis Optica has also been described in other systemic autoimmune diseases.
Highlights
Neuromyelitis Optica and Multiple Sclerosis are idiopathic inflammatory demyelinating diseases of the central nervous system that currently are considered distinct autoimmune diseases, so differences in genetic susceptibility would be expected
It has been shown that the Neuromyelitis optica (NMO)-IgG selectively binds to aquaporin-4 (AQP4), a water channel consisting of a transmembrane protein located at the terminal feet of the astrocytes in the blood–brain barrier
The search strategy determined in the methodology and executed until March 31, 2020, identified 35 articles in the LILACS, SciELO, and PubMed databases
Summary
Neuromyelitis Optica and Multiple Sclerosis are idiopathic inflammatory demyelinating diseases of the central nervous system that currently are considered distinct autoimmune diseases, so differences in genetic susceptibility would be expected. NMO is a rare disease that occurs more frequently in Asians and Afro-descendants and is characterized, in most cases, by selective but not exclusive involvement of the optic nerve and spinal cord, evolving with a relapsing remitting clinical c ourse[4]. It was not until the 90th decade that MS and NMO were recognized as distinct immune mediated diseases; NMO differs from MS in its demographic distribution, resonance magnetic images, morbidity, and pathogenesis[5,6,7]. AQP4 is involved with the function and integrity of this barrier[8,9]
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