AI Article Synopsis
- The study investigates the connection between HLA genetic variations and moyamoya disease (MMD) among Chinese Han individuals, utilizing HLA imputation in a sample of 2,786 participants.
- Researchers found that the genetic variant rs3129731 serves as a significant risk factor for MMD, while another variant, rs1071817, was also identified as having an independent effect related to the HLA-B gene.
- The findings imply that these HLA polymorphisms may predispose individuals to MMD, suggesting a potential immune-related mechanism in the disease's development among this ethnic group.
Article Abstract
Objective: An HLA imputation was conducted to explore the relationship between HLA and patients with moyamoya disease (MMD) in the Chinese Han population.
Methods: In this study, we performed an association analysis of the major histocompatibility complex region in 2,786 individuals of Chinese Han ancestry (2,031 controls and 755 patients with MMD), through a widely used HLA imputation method.
Results: We identified that the variant rs3129731 (odds ratio [OR] = 1.79, = 3.69 × 10) located between the and is a major genetic risk factor for MMD. In addition to this variant, found in the conditional association analysis, we also detected another independent signal, rs1071817 (OR = 0.62, = 1.20 × 10), in HLA-B.
Conclusions: Our research suggests that the genetic polymorphism of and could be a genetic predisposing factor for MMD in Chinese Han. This may provide some evidence for further HLA-related studies of patients with MMD of Chinese Han ethnicity and indicates that MMD is an immune-related disease.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8176556 | PMC |
| http://dx.doi.org/10.1212/NXG.0000000000000592 | DOI Listing |
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