Detection of pathogenic variants in Alzheimer’s disease related genes in Bulgarian patients by pooled whole-exome sequencing

Figures & data

Table 1. Frequencies of the common pathogenic/likely pathogenic variants in AD related genes.

		Present study			GnomAD exomes v.2.1.
		Allele count	Allele number	MAF	Total			Bulgarian
Gene	Variant				Allele count	Allele number	MAF	Allele count	Allele number	MAF	p-value, Chi-squared test
APOE	rs429358 T > C (p.Cys130Arg)	174	358	0.49	23 502	169 692	0.14	99	856	0.12	2.2 × 10^-16
APOE	rs7412 C > T (p.Arg176Cys)	4	135	0.03	8 425	136 984	0.06	29	334	0.09	0.06
HFE	rs1800562 G > A (p.Cys282Tyr)	26	946	0.03	8 344	251 236	0.03	46	2 664	0.02	0.08

MAF, minor allele frequency; p-value, Chi-squared test: of allele frequencies in analysed Bulgarian AD patients and gnomAD Total and Bulgarian exomes (gnomAD, v 2.1).

Table 2. Frequencies of the rare pathogenic/likely pathogenic variants in AD related genes.

		Present study			GnomAD exomes v.2.1.
		Allele count	Allele number	MAF	Total			Bulgarians
Gene	Variant				Allele count	Allele number	MAF	Allele count	Allele number	MAF	p-value, Chi-squared test
PSEN1	rs63750053 G > T (p.Gly209Val)	3	458	0.007	Not found (assumed to have zero allele count)
PSEN2	rs28936380 C > T (p.Thr122Met)	2	562	0.004	3	250 848	1.19 × 10^-3	0	2 644	0	0.03
TREM2	rs104894002 G > A (p.Gln33Ter)	8	502	0.02	5	248 072	2.02 × 10^-3	0	2 636	0	2.55 × 10^-9

MAF, minor allele frequency: p-value, Chi-squared test: for allele frequencies between Bulgarian AD patients and gnomAD Bulgarian exomes.

Data availability statement

Data are available upon request from the authors.