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. 2022 Jul 1;13:3790. doi: 10.1038/s41467-022-30805-7

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© The Author(s) 2022

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 4 — All analyses were performed in 1938 families of the SSC as illustrated in Fig. 1a. a Pearson’s correlation coefficients of mtDNA content between the father, mother, sibling and proband. b Scatter plots for mtDNA content in siblings and probands in relation to the mean values of mtDNA content in their parents. c Scatter plots for mtDNA content in siblings and probands in relation to their age at the time of sample collection. 215 siblings with missing age information were excluded. In b and c, the solid lines represent the linear regression lines estimated among siblings and probands, respectively, and the P value (two-sided) indicates the significance of the slope. d Box plots for the distribution of mtDNA content z-scores (mtCNz) in siblings and probands. All box-plot elements are defined in the same way as in Fig. 1. The P value (two-sided) was obtained from conditional logistic regression, where ASD is the outcome and mtCNz is the predictor. e Forest plots for the effects of mtCNz on ASD risk. The low-tertile group (T1) of mtCNz served as the reference group. f Forest plots for the effects of predicted pathogenic (PP) heteroplasmies on ASD risk among children with low mtCNz (the low-tertile group; T1) vs. medium/high mtCNz (the middle- or high-tertile group; T2/T3). The upper subpanel and lower subpanel show the results for all PP heteroplasmies and PP heteroplasmies with variant allele fraction (VAF) ≥ 5%, respectively. Horizontal black lines represent the 95% confidence interval (CI) of the estimated odds ratio (OR). Values on the x axis are shown on a logarithmic scale.