Table 2.
Top variants in loci associated with CAA formation with p < 5 × 10−6.
SNV | Chr | Positiona | Gene region | Allele | Alt. allele frequencies | ||||
---|---|---|---|---|---|---|---|---|---|
Ref | Alt | CAA (+) | CAA (−) | OR (95% CI) | p | ||||
rs6017006 | 20 | 41934620 | Intergenic | G | A | 0.13 | 0.04 | 5.0 (2.8–9.0) | 2.3 × 10−8 |
rs7871579 | 9 | 139990530 | MAN1B1 intron | T | C | 0.26 | 0.15 | 2.8 (1.8–4.2) | 4.6 × 10−7 |
rs2449565 | 5 | 169135662 | DOCK2 intron | A | G | 0.75 | 0.61 | 2.3 (1.6–3.3) | 1.9 × 10−6 |
rs10762437 | 10 | 73058469 | UNC5B intron | A | G | 0.25 | 0.16 | 2.5 (1.7–3.8) | 3.5 × 10−6 |
rs35932034 | 3 | 106262305 | Intergenic | T | C | 0.03 | 0.11 | 0.2 (0.09–0.4) | 3.7 × 10−6 |
rs1989051 | 8 | 129294118 | Intergenic | T | C | 0.69 | 0.57 | 2.2 (1.6–3.1) | 4.0 × 10−6 |
ORs were calculated using a Wald test, and p values were calculated using a Score test. All effects are relative to the alternate allele, ref/alt alleles are defined by the HRC reference panel.
Chr. chromosome, CAA coronary artery aneurysm, OR odds ratio.
aGRCh37/hg19 position.