A Pooling Genome-Wide Association Study Identifies Susceptibility Loci and Signaling Pathways of Immune Thrombocytopenia in Chinese Han Population
Table 2
The genotype frequency of four significant loci between ITP patients and controls.
SNP
Closest genes
Chr
Position
value in pooling GWAS
Risk allele
Genotypes
Genotype frequency
OR (95% CI)
Cases (%)
Controls (%)
rs117503120
GBE1/LINC02027
3
81352557
G
GG
235 (94.0)
215 (86.0)
7.28
0.43 (0.27–0.67)
0.026
GA
15 (6.0)
35 (14.0)
AA
0 (0.0)
0 (0.0)
rs4483616
TENM4
11
78824323
/
/
/
/
/
/
/
/
/
/
/
/
/
/
/
/
/
/
/
/
/
rs5998634
TIMP3/SYN3
22
33169115
T
CC
212 (84.8)
238 (95.2)
12.5
3.19 (1.98–5.16)
0.0019
CT
36 (14.4)
12 (4.8)
TT
2 (0.8)
0 (0.0)
rs16866133
RBM45/OSBPL6
2
179022610
T
TT
247 (99.5)
235 (94.0)
7.73
0.20 (0.08–0.49)
0.03
TG
3 (0.5)
15 (6.0)
GG
0 (0.0)
0 (0.0)
SNP, single nucleotide polymorphism; Chr, chromosome; ITP, primary immune thrombocytopenic; CI, confidence interval; the positions are based on the GRCh37 assembly. The significance threshold is value <1.0 × 10-7.
