CLINICAL QUESTION
Are there associations between allergic rhinitis (AR) and mitochondrial DNA (mtDNA) at a single variant and gene level?
BOTTOM LINE
Mitochondrial gene maps of patients with AR indicated that the ATP6 gene is probably associated with AR at the single-variant level.
BACKGROUND: AR is the most prevalent atopic disease in the world, affecting up to 40% of adults and 25% of children. Although the exact cause of AR is unknown, genetic and environmental interactions play a role in its occurrence. Correlations between mtDNA and AR have not been reported before.
STUDY DESIGN: Cohort study.
SETTING: First Affiliated Hospital of Xinjiang Medical University, Xinjiang, China.
SYNOPSIS: Mitochondrial sequencing was conducted on a total of 134 unrelated individual subjects (68 patients with AR, 66 healthy controls) in the first cohort. Heteroplasmy was analyzed and sequence kernel association tests (SKATs) were conducted to study the association between mitochondrial genes and AR. A single-variant analysis was performed using logistic regression analysis and further validated through 120 subjects in the second cohort (69 patients with AR, 51 healthy controls). Candidate genes were further explored based on differences in mRNA and protein abundance in nasal mucosal tissue. In the first cohort, 886 variants were identified through mitochondrial sequencing. No statistically significant differences were identified for the mitochondrial heteroplasmy or SKAT analysis between these two groups. One of the nonsynonymous variants, rs3135028 (MT8584.G/A) in ATP6, was found to be related to a reduced risk of AR in both the first and second cohorts. In addition, mRNA levels of MT-ATP6 in nasal mucosal tissue were significantly lower in AR individuals than in controls (P < 0.05). Limitations included the small sample size of the expression assay.
CITATION: Yuan H, Wang L, Wang S, et al. Two‑stage association study of mitochondrial DNA variants in allergic rhinitis. Allergy Asthma Clin Immunol. 2024;20:16.