Mitochondrial DNA heteroplasmy analysis in keratoconus patients from China
نویسندگان
چکیده
Background: Mitochondrial DNA (mtDNA) variants have been implicated in keratoconus (KC). The present study aimed to characterize the mtDNA heteroplasmy profile KC and explore association of mitochondrial heteroplasmic levels with KC. Methods: sequencing peripheral blood samples corneal tomography were conducted 300 cases matched controls. number homoplasmic was calculated across genome. Spearman’s correlation used analyze between age. level analyzed by logistic regression analysis. Moreover, relationship clinical parameters determined linear Results: distribution showed highest non-coding region, while COX3 gene exhibited protein-coding genes. Comparisons non-synonymous genes revealed no significant differences controls (all p > 0.05). In addition, positively associated age all subjects ( r = 0.085, 0.037). analyses indicated that m.16180_16181delAA < 0.005). Linear demonstrated m.302A>C not correlated thinnest thickness (TCT), steep keratometry (Ks), flat (Kf) 0.05) separately. Conclusion: current characterized KC,
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ژورنال
عنوان ژورنال: Frontiers in Genetics
سال: 2023
ISSN: ['1664-8021']
DOI: https://doi.org/10.3389/fgene.2023.1251951