Association of and With Moyamoya Disease in the Chinese Han Population

Overview

Journal Neurol Genet

Date 2021 Jun 7

PMID 34095496

Citations 6

Authors

Jiang Wan

Wei Ling

Zhang Zhengshan

Zuo Xianbo

Duan Lian

Wang Kai

Affiliations

Soon will be listed here.

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.

Citing Articles

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He S, Zhou Z, Cheng M, Hao X, Chiang T, Wang Y MedComm (2020). 2025; 6(2):e70054.

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Research progress on moyamoya disease combined with thyroid diseases.

Zhang G, Liu E, Tan X, Liu C, Yang S Front Endocrinol (Lausanne). 2023; 14:1233567.

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References

Bower R, Mallory G, Nwojo M, Meyer F, Kudva Y . Diabetes mellitus and the Moyamoya syndrome. Ann Intern Med. 2012; 157(5):387-8. DOI: 10.7326/0003-4819-157-5-201209040-00019. View

Sigdel T, Shoemaker L, Chen R, Li L, Butte A, Sarwal M . Immune response profiling identifies autoantibodies specific to Moyamoya patients. Orphanet J Rare Dis. 2013; 8:45. PMC: 3648437. DOI: 10.1186/1750-1172-8-45. View

Pachnio A, Ciaurriz M, Begum J, Lal N, Zuo J, Beggs A . Cytomegalovirus Infection Leads to Development of High Frequencies of Cytotoxic Virus-Specific CD4+ T Cells Targeted to Vascular Endothelium. PLoS Pathog. 2016; 12(9):e1005832. PMC: 5015996. DOI: 10.1371/journal.ppat.1005832. View

Carmona F, Mackie S, Martin J, Taylor J, Vaglio A, Eyre S . A large-scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility. Am J Hum Genet. 2015; 96(4):565-80. PMC: 4385191. DOI: 10.1016/j.ajhg.2015.02.009. View

Sakurai K, Horiuchi Y, Ikeda H, Ikezaki K, Yoshimoto T, Fukui M . A novel susceptibility locus for moyamoya disease on chromosome 8q23. J Hum Genet. 2004; 49(5):278-81. DOI: 10.1007/s10038-004-0143-6. View

Kim J . Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis. J Stroke. 2016; 18(1):2-11. PMC: 4747069. DOI: 10.5853/jos.2015.01627. View

Lv N, Wang Z, Dang A, Zhu X, Liu Y, Zheng D . HLA-DQA1, DQB1 and DRB1 alleles associated with Takayasu arteritis in the Chinese Han population. Hum Immunol. 2015; 76(4):241-4. DOI: 10.1016/j.humimm.2015.01.008. View

Tanigawara T, Yamada H, Sakai N, Andoh T, Deguchi K, Iwamura M . Studies on cytomegalovirus and Epstein-Barr virus infection in moyamoya disease. Clin Neurol Neurosurg. 1997; 99 Suppl 2:S225-8. DOI: 10.1016/s0303-8467(97)00049-8. View

Han H, Pyo C, Yoo D, Huh P, Cho K, Kim D . Associations of Moyamoya patients with HLA class I and class II alleles in the Korean population. J Korean Med Sci. 2003; 18(6):876-80. PMC: 3055136. DOI: 10.3346/jkms.2003.18.6.876. View

10.

de Bakker P, McVean G, Sabeti P, Miretti M, Green T, Marchini J . A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet. 2006; 38(10):1166-72. PMC: 2670196. DOI: 10.1038/ng1885. View

11.

Duan L, Wei L, Tian Y, Zhang Z, Hu P, Wei Q . Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. Stroke. 2017; 49(1):11-18. DOI: 10.1161/STROKEAHA.117.017430. View

12.

Wanifuchi H, Kagawa M, Takeshita M, Izawa M, Maruyama S, Kitamura K . [Autoimmune antibody in moyamoya disease]. No Shinkei Geka. 1986; 14(1):31-5. View

13.

Kitahara T, Okumura K, Semba A, Yamaura A, Makino H . Genetic and immunologic analysis on moya-moya. J Neurol Neurosurg Psychiatry. 1982; 45(11):1048-52. PMC: 491644. DOI: 10.1136/jnnp.45.11.1048. View

14.

Au W, Lie A, Kung A, Liang R, Hawkins B, Kwong Y . Autoimmune thyroid dysfunction after hematopoietic stem cell transplantation. Bone Marrow Transplant. 2005; 35(4):383-8. DOI: 10.1038/sj.bmt.1704766. View

15.

Mineharu Y, Liu W, Inoue K, Matsuura N, Inoue S, Takenaka K . Autosomal dominant moyamoya disease maps to chromosome 17q25.3. Neurology. 2008; 70(24 Pt 2):2357-63. DOI: 10.1212/01.wnl.0000291012.49986.f9. View

16.

. Guidelines for diagnosis and treatment of moyamoya disease (spontaneous occlusion of the circle of Willis). Neurol Med Chir (Tokyo). 2012; 52(5):245-66. DOI: 10.2176/nmc.52.245. View

17.

Chan K, Gully B, Gras S, Beringer D, Kjer-Nielsen L, Cebon J . Divergent T-cell receptor recognition modes of a HLA-I restricted extended tumour-associated peptide. Nat Commun. 2018; 9(1):1026. PMC: 5847591. DOI: 10.1038/s41467-018-03321-w. View

18.

Roder C, Nayak N, Khan N, Tatagiba M, Inoue I, Krischek B . Genetics of Moyamoya disease. J Hum Genet. 2010; 55(11):711-6. DOI: 10.1038/jhg.2010.103. View

19.

Aoyagi M, Ogami K, Matsushima Y, Shikata M, Yamamoto M, Yamamoto K . Human leukocyte antigen in patients with moyamoya disease. Stroke. 1995; 26(3):415-7. DOI: 10.1161/01.str.26.3.415. View

20.

Zhou F, Cao H, Zuo X, Zhang T, Zhang X, Liu X . Deep sequencing of the MHC region in the Chinese population contributes to studies of complex disease. Nat Genet. 2016; 48(7):740-6. DOI: 10.1038/ng.3576. View