Researchers also identified an HLA variant, or mutation, associated with neuromyelitis optica spectrum disorder (NMOSD), an autoimmune condition often misdiagnosed as MS.
Their study, “Next-generation sequencing identifies contribution of both class I and II HLA genes on susceptibility of multiple sclerosis in Japanese,” was published in the Journal of Neuroinflammation.
The link between HLA genes — which code for proteins that help the body distinguish between its own and proteins those belonging to invaders like bacteria — and MS risk is known. Specifically, high-resolution methods identified protective polymorphisms (variants) in class I HLA genes, while other studies found variants associated with higher likelihood and younger onset of MS.
Research in European and Japanese patients has also linked specific HLA variants with higher or lower risks of NMOSD. However, detailed assessments of classical and non-classical HLA genes implicated in MS and NMOSD risk in the Japanese population have not been performed.
To address this gap, a team led by scientists at Osaka University Graduate School of Medicine conducted a genetic analysis called next-generation sequencing in 45 patients with MS (35 women, mean age 43.6), 31 with NMOSD (24 women, mean age 52.7), and 429 healthy controls. Age at disease onset was 34.3 years in MS patients, and 47.4 in those with NMOSD.
Data from patients were collected from three medical institutes in Japan. All lived in the country’s Kinki region.
Among the 16 sequenced HLA genes, results revealed that HLA-DRB1*15:01, a variant previously identified as an MS risk factor, had the strongest association with this disease.
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