Analysis of COQ2gene in multiple system atrophy

Table 3 Frequency of nine COQ2 mutations found in CoQ10 deficiency-1

Study	Country	Mutation	Frequency				P value vs. controls
Study	Country	Mutation	Clinical MSA N (%)	Pathologically-confirmed MSA N (%)	Total MSA N (%)	Control N (%)	Clinical MSA	Pathologically-confirmed MSA	Total MSA
This study	USA	p.S146N	0/58 (0)	1/97 (1.0)	1/155 (0.6)	NA	NA	NA	NA
Tsuji et al. [4]	²mixed	p.R387X	1/762 (0.1)	0/2 (0.0)	1/764 (0.1)	0/1129 (0)	0.40	NA	0.40
Jeon et al. [17]	Korea	None	0/299 (0)	NA	0/299 (0)	0/365 (0)	1.00	NA	1.00
Sharma et al. [18]	Europe	None	0/788 (0)	NA	0/788 (0)	0/600 (0)	1.00	NA	1.00
Schottlaender et al. [13]	Europe	p.R197H	NA	1/300 (0.3)	1/300 (0)	0/262 (0)	NA	1.00	1.00
¹EVS	USA	None	NA	NA	NA	0/4000 (0)	NA	NA	NA
Combined	Combined	p.S146N, p.R197H or p.R387X	1/1907 (0.05)	2/361* (0.5)	3/2268 (0.1)	0/6356 (0)	0.23	0.0029	0.019

Total nine COQ2 mutations previously found in primary CoQ10 deficiency-1, p.S109N, p.S146N, p.R197H, p.N228S, p.L234fsX247, p.T297C, p.A302V, p.R387X and p.N401fsX15, were not found in more than 4000 subjects of EVS. ¹Data of European American population from Exome Variant Server. ²Mixed indicates Japan, Europe and North America. Abbreviation: EVS, Exome Variant Server, MSA, multiple system atrophy, NA, not available. *Thirty eight out of 97 our patients were included in the study of Schottlaender et al. P-values result from Fisher’s exact test. Because only two pathologically-confirmed MSA patients were included in the study by Tsuji et al., we did not make a comparison of pathologically confirmed MSA patients vs. controls for that study.

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