Table 2 Summary of genetic variants associated with DLB. Single nucleotide polymorphisms (SNP), allele or haplotype are listed. For SNPs rs numbers are provided and amino acid variant stated for exonic mutations

APOE

rs429358 (C130R) / E4 (allele)

Apolipoprotein 4

[97,98,99, 105]

SNCA

rs7681440 (intronic)

rs356182 (intronic)

rs104893875 (E46K)

rs104893877 (A53T)

Duplication

α-synuclein

[77, 78, 82, 98, 99]

GBA

Multiple mutations

β-glucocerebrosidase

[99, 107]

SCARB2

rs6812193 (intronic)

Lysosomal integral membrane protein-2

[98]

MAPT

H1G (haplotype)

H2 (haplotype)

rs143624519 (A152T)

R221Q^a

Microtubule-associated protein tau

[206,207,208]

LRRK2

rs34637584 (G2019S)

Leucine-rich Kinase-2

[209]

SNCB

rs104893937 (P123H)

rs104893936 (V70M)

β-Synuclein

[91, 92]

PSEN1

rs63749824 (A79V)

Presenilin 1

[207]

PSEN2

rs140501902 (R71W)

rs63750048 (A85V)

V191E^a

rs63750110 (D439A)

Presenilin 2

[97, 207, 210]

GRN

rs63750441 (C105R)

Multiple variants

Granulin

[207, 211]

PARK2

rs148990138 (P37L)

A46S^a

rs191486604(G430D)

rs34424986 (R275W)

Parkin

[97, 207]

PINK1

P138L^a

rs139226733 (M318L)

S499C^a

PTEN-induced kinase 1

[207]

APP

rs63750264 (V717I)

Duplication

Amyloid precursor protein

[89, 212]

GABRB3

rs1426210 (intronic)

Gamma-aminobutyric acid receptor subunit beta-3

[99]

BCL7C/STX1B

rs897984 (intronic)

B-cell CLL/lymphoma 7 protein family member C / Syntaxin 1B

[99]

TREM2

rs143332484 (R62H)

Triggering receptor expressed on myeloid cells 2

[211]

CHMP2B

rs63750818 (I29V)

Charged multivesicular body protein 2B

[97]

SQSTM1

rs200396166 (A33V)

P27L^a

Sequestosome

[97]

EIF4G1

M1134V^a

Eukaryotic translation initiation factor 4 gamma 1

[97]

GIGYF2

S1029C^a

S66T^a

GRB10 interacting GYF protein 2

[97]