Parkin Exon Rearrangements and Sequence Variants in LRRK2 Mutations Carriers: Analysis on a Possible Modifier Effect on LRRK2 Penetrance
Table 3
Allele and genotype frequency distribution of three single-nucleotide polymorphisms of the parkin gene in carriers of LRRK2 mutations (R1441C or G2019S) with or without PD.
Polymorphism
R1441C Affected
G2019S Affected
Total R1441 or G2019 Affected
G2019S Healthy
P =
rs2075923 IVS2+25T→C
Allele T
2
9
11
16
.243
Allele C
2
5
7
4
Genotype TT [Mean AO or AE ± SD (ys)]
0
3 [65.5 ± 9.0]
3 [65.5 ± 9.0]
7 [67.7 ± 9.9]
Genotype TC [Mean AO or AE ± SD (ys)]
2 [67.8 ± 7.5]
3 [78.7 ± 4.2]
5 [74.4 ± 6.6]
2 [68.2 ± 8.2]
Genotype CC [Mean AO or AE ± SD (ys)]
0 [NV]
1 [77.2]
1 [77.2]
1 [69.7]
rs3765474 IVS735G→A
Allele G
2
8
10
11
.550
Allele A
2
6
8
9
Genotype GG [Mean AO or AE ± SD (ys)]
1 []
2 [73.9 ± 1.4]
3 [65.5 ± 4.9]
2 [73.4 ± 0.7]
Genotype GA [Mean AO or AE ± SD (ys)]
0
4 [64.3 ± 15.9]
4 [64.3 ± 15.9]
7 [67.2 ± 9.7]
Genotype AA [Mean AO or AE ± SD (ys)]
1 []
1 []
2 [62 ± 4.2]
1 [62.5]
EX10 c.1239G>C Val380Leu
Allele G
3
11
14
14
.656
Allele C
1
3
4
6
Genotype GG [Mean AO or AE ± SD (ys)]
1 []
4 [61.3 ± 13.7]
5 [61.0 ± 11.9]
4 [60.9 ± 7.7]
Genotype GC [Mean AO or AE ± SD (ys)]
1 []
3 [77 ± 5.4]
4 [74.8 ± 6.2]
6 [72.7 ± 5.5]
Genotype CC [Mean AO or AE ± SD (ys)]
0
0
0
0
AO: age at disease onset; AE: age at examination; SD: Standard deviation; ys: years.
