Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations

Table 4 The top six genes with the highest frequency implicated in FTD in China

Genes	Studies	Positive cases	Total Cases	Mutation rate (95%CI)	Q-value	p (Q)	I² (%)	p_f value
MAPT	10	40	842	0.037 (0.025 to 0.050)	9.57	0.3868	5.90%	0.094
TBK1	8	19	751	0.020 (0.010 to 0.031)	5.14	0.6426	0.00%	0.7709
GRN	11	16	866	0.017 (0.008 to 0.026)	2.73	0.9871	0.00%	0.9349
C9orf72	11	6	846	0.005 (0.000 to 0.011)	2.73	0.987	0.00%	0.5501
OPTN	7	7	665	0.003 (0.000 to 0.009)	5.88	0.4362	0.00%	0.5131
CHCHD10	8	9	779	0.003 (0.000 to 0.008)	7.86	0.3451	10.90%	0.1355

FTD frontotemporal dementia, Q heterogeneity between studies, p (Q) p-value for heterogeneity, I² percentage of heterogeneity caused by study differences, p_f: p-value for linear regression test of funnel plot asymmetry

ISSN: 1758-9193