rs117518546 - IGHG1

Magnitude 4.5 · 1 study on file

Reported associations

• Whole-exome sequencing reveals the major genetic factors contributing to neuromyelitis optica spectrum disorder in Chinese patients with aquaporin 4-IgG seropositivity. - European journal of neurology (2021) · Zhong X, Chen C, Sun X, Wang J, Li R, Chang Y, Fan P, Wang Y, Wu Y, Peng L, Lu Z, Qiu W · PubMed 33559384

  Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disease. Although genetic factors are involved in its pathogenesis, limited evidence is available in this area. The aim of the present study was to identify the major genetic factors contributing to NMOSD in Chinese patients with aquaporin 4 (AQP4)-IgG seropositivity. Whole-exome sequencing (WES) was performed on 228 Chinese NMOSD patients seropositive for AQP4-IgG and 1400 healthy controls in Guangzhou, South China. Human leukocyte antigen (HLA) sequencing was also utilized. Genotype model and haplotype, gene burden, and enrichment analyses were conducted. A significant region of the HLA composition is on chromosome 6, and great variation was observed in DQB1, DQA2 and DQA1. HLA sequencing confirmed that the most significant

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