Table 3.
SNPs associated with HFpEF by phenotype by genome-wide logistic regression
| HFpEF | SNP | Gene | CHR | Position | MA | MAF | Model | GWA
|
At-risk genotype
|
||
|---|---|---|---|---|---|---|---|---|---|---|---|
| OR | p value | Case | Control | ||||||||
| All subjects | |||||||||||
| All* | rs6696224 | TGFBR3 | 1 | 91,966,250 | G | 0.112 | REC | 7.6 | 1.77E − 07 | 12/284 (4.2) | 16/2754 (0.6) |
| Incident* | rs6696224 | TGFBR3 | 1 | 91,966,250 | G | 0.112 | REC | 11.3 | 3.70E − 09 | 10/171 (6.2) | 16/2754 (0.6) |
| No clinical risk factors | |||||||||||
| All* | rs2466052 | NRG1 | 8 | 32,631,182 | G | 0.049 | ADD | 10.1 | 2.76E − 07 | 8/23 (34.8) | 35/701 (5.0) |
| All | rs10759715 | – | 9 | 116,317,116 | G | 0.188 | ADD | 4.6 | 9.39E − 07 | 15/23 (65.0) | 143/705 (20.0) |
| Any risk factors present | |||||||||||
| Baseline | rs5871 | CALM1 | 14 | 89,941,231 | G | 0.092 | REC | 11.7 | 6.27E − 07 | 7/112 (6.2) | 11/1943 (0.6) |
| Adjusted for number of risk factors present | |||||||||||
| All | rs6696224 | TGFBR3 | 1 | 91,966,250 | G | 0.112 | REC | 8.5 | 5.53E − 07 | NA | NA |
| Incident* | rs6696224 | TGFBR3 | 1 | 91,966,250 | G | 0.112 | REC | 9.5 | 2.4E − 07 | NA | NA |
| No atrial fibrillation | |||||||||||
| Incident* | rs6696224 | TGFBR3 | 1 | 91,966,250 | G | 0.112 | REC | 11.3 | 1.24E − 08 | 9/140 (6.4) | 16/2653 (0.6) |
| No coronary artery disease | |||||||||||
| All | rs6696224 | TGFBR3 | 1 | 91,966,250 | G | 0.112 | REC | 9.7 | 6.65E − 07 | 8/158 (5.1) | 12/2379 (0.5) |
| Incident* | rs6696224 | TGFBR3 | 1 | 91,966,250 | G | 0.112 | REC | 12.6 | 1.26E − 07 | 7/108 (6.5) | 13/2379 (0.5) |
| No chronic kidney disease | |||||||||||
| All | rs604983 | BCL9 | 1 | 145,500,786 | A | 0.037 | ADD | 8.8 | 9.47E − 07 | 9/137 (6.6) | 13/1637 (0.8) |
| No chronic obstructive pulmonary disease | |||||||||||
| All* | rs6696224 | TGFBR3 | 1 | 91,966,250 | G | 0.112 | REC | 8.9 | 9.89E − 08 | 11/220 (5.0) | 14/2370 (0.6) |
| Incident* | rs6696224 | TGFBR3 | 1 | 91,966,250 | G | 0.112 | REC | 14.0 | 4.94E − 10 | 10/130 (7.7) | 14/2370 (0.6) |
| Incident | rs2762941 | CYP24A1 | 20 | 52,217,059 | A | 0.400 | REC | 2.7 | 8.54E − 07 | 40/129 (31.0) | 342/2370 (14.4) |
| No diabetes mellitus | |||||||||||
| All | rs882520 | ARHGEF1 | 19 | 47,081,120 | T | 0.489 | ADD | 1.7 | 8.47E − 07 | 161/207 (77.8) | 1578 (65.7) |
| Baseline* | rs3823879 | ELN | 7 | 73,092,727 | A | 0.081 | ADD | 3.2 | 2.83E − 07 | 26/85 (30.6) | 256/2425 (10.6) |
| Incident* | rs6696224 | TGFBR3 | 1 | 91,966,250 | G | 0.112 | REC | 10.3 | 1.44E − 07 | 16/2425 (0.7) | 8/125 (6.4%) |
| No hypertension | |||||||||||
| All* | rs6696224 | TGFBR3 | 1 | 91,966,250 | G | 0.112 | REC | 17.5 | 3.22E − 09 | 10/131 (7.6) | 8/1703 (0.5) |
| Incident* | rs6696224 | TGFBR3 | 1 | 91,966,250 | G | 0.112 | REC | 25.3 | 3.61E − 10 | 8/75 (10.7) | 8/1703 (0.5) |
SNP single-nucleotide polymorphism, CHR chromosome, MA(F) minor allele (frequency), OR odds ratio, GWA genome-wide association, CKD chronic kidney disease, COPD chronic obstructive pulmonary disease, ADD additive, REC recessive
*
p < 5E − 7 (significant association using Bonferroni correction)