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Mitochondrial and Nuclear Mitochondrial Variants in Allergic Diseases

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dc.contributor.author조형주-
dc.contributor.author손명현-
dc.contributor.author김윤희-
dc.contributor.author김경원-
dc.date.accessioned2020-10-05T01:03:31Z-
dc.date.available2020-10-05T01:03:31Z-
dc.date.issued2020-09-
dc.identifier.issn2092-7355-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/179735-
dc.description.abstractThe 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.-
dc.description.statementOfResponsibilityopen-
dc.publisherKorean Academy of Pediatric Allergy and Respiratory Disease-
dc.relation.isPartOfALLERGY ASTHMA & IMMUNOLOGY RESEARCH-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.titleMitochondrial and Nuclear Mitochondrial Variants in Allergic Diseases-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Otorhinolaryngology (이비인후과학교실)-
dc.contributor.googleauthorHaerin Jang-
dc.contributor.googleauthorMina Kim-
dc.contributor.googleauthorJung Yeon Hong-
dc.contributor.googleauthorHyung Ju Cho-
dc.contributor.googleauthorChang Hoon Kim-
dc.contributor.googleauthorYoon Hee Kim-
dc.contributor.googleauthorMyung Hyun Sohn-
dc.contributor.googleauthorKyung Won Kim-
dc.identifier.doi10.4168/aair.2020.12.5.877-
dc.contributor.localIdA03936-
dc.contributor.localIdA01967-
dc.contributor.localIdA00799-
dc.contributor.localIdA00303-
dc.relation.journalcodeJ00064-
dc.identifier.eissn2092-7363-
dc.identifier.pmid32638566-
dc.subject.keywordMitochondrial DNA-
dc.subject.keywordassociation-
dc.subject.keywordasthma-
dc.subject.keywordatopic dermatitis-
dc.subject.keywordheteroplasmy-
dc.contributor.alternativeNameCho, Hyung Ju-
dc.contributor.affiliatedAuthor조형주-
dc.contributor.affiliatedAuthor손명현-
dc.contributor.affiliatedAuthor김윤희-
dc.contributor.affiliatedAuthor김경원-
dc.citation.volume12-
dc.citation.number5-
dc.citation.startPage877-
dc.citation.endPage884-
dc.identifier.bibliographicCitationALLERGY ASTHMA & IMMUNOLOGY RESEARCH, Vol.12(5) : 877-884, 2020-09-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Otorhinolaryngology (이비인후과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers

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