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Mitochondrial and Nuclear Mitochondrial Variants in Allergic Diseases

 Haerin Jang  ;  Mina Kim  ;  Jung Yeon Hong  ;  Hyung Ju Cho  ;  Chang Hoon Kim  ;  Yoon Hee Kim  ;  Myung Hyun Sohn  ;  Kyung Won Kim 
 ALLERGY ASTHMA & IMMUNOLOGY RESEARCH, Vol.12(5) : 877-884, 2020-09 
Journal Title
Issue Date
Mitochondrial DNA ; association ; asthma ; atopic dermatitis ; heteroplasmy
The mitochondrial genome encodes core catalytic peptides that affect major metabolic processes within a cell. Here, we investigated the association between mitochondrial DNA (mtDNA) variants and allergic diseases, including atopic dermatitis (AD) and asthma, alongside heteroplasmy within the mtDNA in subjects with allergic sensitization. We collected genotype data from 973 subjects with allergic sensitization, consisting of 632 children with AD, 498 children with asthma, and 481 healthy controls by extracting DNA from their blood samples. Fisher's exact test was used to investigate mtDNA and nuclear DNA variants related to mitochondrial function (MT-nDNA) to identify their association with allergic diseases. Among the 69 mtDNA variants, rs28357671 located on the MT-ND6 gene displayed statistically significant associations with allergic diseases (Bonferroni-corrected P < 7.25E-4), while 6, 4, and 2 genes were associated with allergic sensitization, AD, and asthma, respectively (P < 0.0002), including NLRX1, OCA2, and CHCHD3 among the MT-nDNA genes. Heteroplasmy of mitochondrial DNA associated with allergic sensitization was evaluated in a separate cohort of patients consisting of 59 subjects with allergic sensitization and 52 controls. Heteroplasmy was verified when a patient carried both alleles of a mitochondrial single-nucleotide polymorphism (SNP) when clustered. One of the 134 mitochondrial SNPs showed heteroplasmy at a level of 0.4313 when clustering was applied. The probe sequence located at mitochondrial position 16217 and within the D-loop, which acts as a major control site for mtDNA expression. This is the first study to evaluate the association between mitochondrial DNA variants and allergic diseases. A harmonized effect of genes related to mitochondrial function may contribute to the risk of allergic diseases.
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1. College of Medicine (의과대학) > Dept. of Otorhinolaryngology (이비인후과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Kyung Won(김경원) ORCID logo https://orcid.org/0000-0003-4529-6135
Kim, Yoon Hee(김윤희) ORCID logo https://orcid.org/0000-0002-2149-8501
Sohn, Myung Hyun(손명현) ORCID logo https://orcid.org/0000-0002-2478-487X
Cho, Hyung Ju(조형주) ORCID logo https://orcid.org/0000-0002-2851-3225
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