Table 2.
Genome-wide association study results
| GeneSTAR (AA) | PGAP | GeneSTAR (EA) | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| SNP_CA | Position | Gene | β(SE) | P-value | MAF | β(SE) | P-value | MAF | β(SE) | P-value | MAF |
| Epinephrine 2 μM | |||||||||||
| rs12041331_A | 1:155136338 | PEAR1 | −0.93 (0.13) | 2.82 × 10-12 | 29.2 % | −0.19 (0.05) | 4.64 × 10−3 | 32.8 % | −0.47 (0.18) | 4.47 × 10−3 | 9.1 % |
| Collagen 2 μg/mL | |||||||||||
| rs12041331_A | 1:155136338 | PEAR1 | −0.89 (0.13) | 2.74 × 10−11 | 35.8 % | −1.55 (0.59) | 9.0 × 10−3 | 32.1 % | −0.47 (0.18) | 0.01 | 9.1 % |
| ADP 2 μM | |||||||||||
| rs12041331_A | 1:155136338 | PEAR1 | −9.2 (1.56) | 5.8 × 10−9 | 35.8 % | −3.65 (2.41) | 0.13 | 33.2 % | −8.52 (1.87) | 6.08 × 10−6 | 9.1 % |
| rs11924165_T | 3:127391893 | ALDH1L1-AS2 | 9.72 (1.68) | 1.17 × 10−8 | 16.9 % | −5.10 (2.86) | 0.07 | 20.0 % | - | - | -* |
| rs10883735_T | 10:104298436 | SUFU | −13.9 (2.45) | 2.18 × 10−8 | 5.1 % | 1.72 (4.28) | 0.69 | 8.3 % | 1.36 (2.45) | 0.48 | 8.1 % |
| rs11202221_G | 10:88592294 | BMPR1A | −12.72 (2.30) | 4.8 × 10−8 | 7.3 % | −16.04 (4.06) | 7.71 × 10−5 | 9.1 % | 0.60 (1.50) | 0.69 | 20.5 % |
| ADP 10 μM | |||||||||||
| rs12041331_A | 1:155136338 | PEAR1 | −5.63 (0.88) | 3.2 × 10-10 | 35.8 % | −3.65 (2.41) | 0.13 | 32.1 % | −2.57 (1.36) | 0.06 | 9.1 % |
| rs6566765_T | 18:69569776 | 4.72 (0.84) | 3.59 × 10−8 | 39.7 % | 1.78 (2.49) | 0.34 | 39.3 % | 2.01 (0.62) | 1.3 × 10−3 | 35.1 % | |
| rs9889955_G | 17:69072972 | SDK2 | −6.42 (1.15) | 4.14 × 10−8 | 23.5 % | −0.47 (2.71) | 0.86 | 25.9 % | −0.32 (0.74) | 0.66 | 39.3 %† |
Abbreviations: SNP single nucleotide polymorphism, CA coded allele, β regression coefficient, SE standard error, GeneSTAR Genetic Study of Atherosclerosis, PGAP Platelet Gene and Physiology, MAF minor allele frequency, ADP adenosine diphosphate, AA African Americans, EA European Americans
Note: In PGAP the epinephrine concentration of 1.5 uM, ADP concentration of 4 uM, and collagen concentration of 2.5 ug/mL were used
* This SNP is monomorphic in population of European descent. Another SNP, rs7611945_A, 231,689 bp upstream of rs11924165 was statistically significant (β(SE) = −4.68 (1.32); p = 4.25 × 10−4; MAF = 20 %) after adjusting for the number of SNPs in between (N = 97) or the number of LD blocks (N = 20)
† Another variant in SDK2 gene, rs11869008_G, located 140,506 bp downstream of rs9889955 was statistically significant (β(SE) = −2.79 (0.84); p = 9.66 × 10−4; MAF = 19.7 %) after adjusting for the number of LD blocks in YRI (N = 25) but not after adjusting for the number of genotyped SNPs (N = 63)
Genome-wide association study results of platelet aggregation in discovery cohort of African Americans and replication cohorts of African Americans and European Americans