Table 1.

Association of predicted pathogenic heteroplasmies with ASD risk in the SSC and BBC, respectively, and in combined samples of the SSC and BBC.

PP heteroplasmy	Model 1				Model 2
	SSC	BBC	Meta		SSC	BBC	Meta
	OR	OR	ORa	P (het)b	OR	OR	ORa	P (het)b
	[95% CI]	[95% CI]	[95% CI]		[95% CI]	[95% CI]	[95% CI]
All	1.50	2.32	1.56	0.33	1.50	2.20	1.55	0.40
	[1.14–1.96]	[1.00–5.38]	[1.21–2.02]		[1.14–1.97]	[0.94–5.16]	[1.19–2.01]
VAF ≥ 5%	2.17	4.04	2.28	0.44	2.16	3.96	2.27	0.45
	[1.39–3.38]	[0.89–18.35]	[1.49–3.49]		[1.38–3.39]	[0.87–17.90]	[1.48–3.50]
Inherited	2.13	2.17	2.13	0.99	2.21	2.57	2.24	0.89
	[1.15–3.92]	[0.32–14.81]	[1.19–3.82]		[1.19–4.10]	[0.36–18.44]	[1.24–4.04]
De novo	1.40	1.88	1.44	0.54	1.38	1.67	1.41	0.70
	[1.04–1.88]	[0.75–4.68]	[1.08–1.91]		[1.02–1.87]	[0.66–4.25]	[1.05–1.87]

Model 1: SSC: ~ carrying PP heteroplasmies + mtCNz + strata(family id); BBC: ~ carrying PP heteroplasmies + mtCNz + sex + mtDNA-inferred ancestry; Model 2: SSC: model 1 + maternal age at childbirth + paternal age at childbirth + child age at the time of sample collection; BBC: model 1 + maternal age at childbirth.

^aThe OR (odds ratio) of carrying predicted pathogenic (PP) heteroplasmies for ASD were estimated based on fixed-effect meta-analysis (Meta) of the results from the SSC and BBC; the ORs of carrying inherited PP heteroplasmies and de novo PP heteroplasmies were assessed jointly as: ~ de novo heteroplasmy + inherited heteroplasmy + covariates.

^bQ statistic P values for heterogeneity in the ORs estimated between the SSC and BBC. The null distribution of Q statistic follows a chi-square distribution with 1 degree of freedom.