Circulating miRNome profiling in Moyamoya disease-discordant monozygotic twins and endothelial microRNA expression analysis using iPS cell line

Table 1 Demographics and clinical features of the study participants

	Age (y)		Sex	Disease type	Disease stage	Familial MMD	EC/IC bypass	Comorbidity	Brain lesion	rs112735431 (RNF213)
	at sampling	at onset	Sex	Disease type	Disease stage	Familial MMD	EC/IC bypass	Comorbidity	Brain lesion	rs112735431 (RNF213)
Circulating miRNome microarray analysis
MMD-Discordant Monozygotic Twins
Affected Twin	12	3	F	TIA	3	Yes	Yes	No	No	AG
Non-affected Twin	12	–	F	–	–	Yes	–	No	No	AG
Non-Twin cohort
MMD, n = 9	49.7 ± 5.4	37.3 ± 7.3	66.7%	All TIA	3	56.0%	100%	11%	67%	All AG
Control, n = 10	51.7 ± 3.6	–	70%	–	–	0%	0%	0%	–	All GG
P-value	0.75		1.0
iPSEC-microRNA and gene expression analysis
MMD, n = 3	41.0 ± 3.6	39.1 ± 4.0	67%	All TIA	3	TIA	67%	33%	0%	All AG
Control, n = 3	50.0 ± 2.0	–	0%	–	–	0%	0%	0%	–	All GG

Disease stage indicates MRA grade of the advanced hemisphere if a difference between hemispheres exists. Comorbidity observed in study participants was hypertension. Age (years) was expressed as the mean ± SEM and Disease stage was expressed as median in the non-twin cohort. F female, EC/IC bypass: extracranial-intracranial bypass, TIA transient ischemic attack. A: minor and G: major allele for rs112735431 of the RNF213 gene