|
Locus
|
SNP
|
RA
|
RAF (Cases/Controls)
|
OR
|
95% CI
|
P
|
Nearest gene symbol
|
---|
1&
|
1q21
|
rs6666258
|
C
|
0.31/0.33
|
0.91
|
0.72–1.15
|
0.400
|
KCNN3 [9, 26]
|
2
|
1q24
|
rs3903239
|
C
|
0.46/0.49
|
0.85
|
0.68–1.07
|
0.200
|
PRRX1 [9]
|
3
|
3p25
|
rs4642101
|
G
|
0.61/0.62
|
0.99
|
0.79–1.25
|
0.900
|
CAND2 [22]
|
4#*
|
3p21
|
rs6795970
|
A
|
0.00/0.00
|
–
|
–
|
–
|
SCN10A [17]
|
5&*
|
4q25
|
rs2200733
|
T
|
0.08/0.08
|
0.96
|
0.65–1.42
|
0.900
|
PITX2 [9, 10]
|
6&
|
4q25
|
rs2634073
|
A
|
0.14/0.15
|
0.88
|
0.65–1.20
|
0.400
|
PITX2 [9]
|
7&
|
4q25
|
rs6843082
|
G
|
0.16/0.18
|
0.87
|
0.66–1.17
|
0.400
|
PITX2 [9, 14]
|
8
|
4q25
|
rs1448818
|
G
|
0.26/0.24
|
1.13
|
0.89–1.43
|
0.300
|
PITX2 [21]
|
9&
|
4q25
|
rs10033464
|
T
|
0.76/0.94
|
0.79
|
0.53–1.17
|
0.300
|
PITX2 [21, 27]
|
10
|
4q25
|
rs17570669
|
T
|
0.06/0.08
|
0.74
|
0.48–1.12
|
0.200
|
PITX2 [21]
|
11
|
4q25
|
rs2723288
|
T
|
0.29/0.28
|
1.08
|
0.86–1.35
|
0.500
|
PITX2 [21]
|
12
|
4q25
|
rs4400058
|
A
|
0.08/0.09
|
0.80
|
0.54–1.18
|
0.300
|
PITX2 [21]
|
13
|
4q25
|
rs6838973
|
T
|
0.43/0.44
|
0.95
|
0.76–1.18
|
0.700
|
PITX2 [21]
|
14
|
4q25
|
rs3853445
|
C
|
0.26/0.25
|
0.99
|
0.78–1.27
|
0.900
|
PITX2 [21]
|
15
|
5q31
|
rs2040862
|
T
|
0.18/0.16
|
1.15
|
0.87–1.53
|
0.300
|
PITX2 [21]
|
16
|
6q22
|
rs13216675
|
T
|
0.68/0.69
|
0.95
|
0.75–1.18
|
0.600
|
GJA1 [22]
|
17
|
7q31
|
rs3807989
|
G
|
0.41/0.42
|
1.00
|
0.81–1.25
|
0.900
|
CAV1 [9]
|
18
|
9q22
|
rs10821415
|
A
|
0.39/0.39
|
0.97
|
0.78–1.20
|
0.800
|
C9ORF3 [9]
|
19
|
10q22
|
rs10824026
|
G
|
0.13/0.15
|
0.85
|
0.62–1.16
|
0.300
|
MYOZ1 [9]
|
20
|
10q24
|
rs12415501
|
T
|
0.15/0.16
|
0.92
|
0.68–1.23
|
0.600
|
NEURL [22]
|
21
|
12q24
|
rs10507248
|
T
|
0.75/0.74
|
1.05
|
0.82–1.33
|
0.700
|
TBX5 [22]
|
22
|
14q23
|
rs1152591
|
T
|
0.51/0.48
|
1.11
|
0.89–1.38
|
0.300
|
SYNE2 [9]
|
23
|
15q24
|
rs7164883
|
G
|
0.17/0.13
|
1.28
|
0.96–1.70
|
0.090
|
HCN4 [9]
|
24
|
16q22
|
rs2106261
|
A
|
0.18/0.17
|
1.09
|
0.83–1.44
|
0.500
|
ZFHX3 [9, 36]
|
- SNP: single-nucleotide polymorphism; RA: Risk allele; RAF: Risk allele frequency in cases over controls in our cohort; OR: odds ratio; CI: confidence interval; P value for the additive genetic model of inheritance (per copy allele frequency)
-
#: No risk allele (A) exists in the GEVAMI cohort. Logistic regression models under an additive model of inheritance adjusted for age and sex. Number of cases = 257; number of controls = 537
-
&: The SNP rs6666258 is in linkage disequilibrium (r2 = 1.00) with rs13376333
-
&: The SNP 2200733 is in linkage disequilibrium (r2 = 1.00) with rs6817105 and rs17042171
-
&: The rs2634073 is in linkage disequilibrium (r2 = 0.80) with rs6843082
-
&: The rs10033464 is in linkage disequilibrium (r2 = 1.00) with rs4032974
- *: The SNP rs6795970 and 2,200,733 are both associated with SCD [20]