TABLE 2.
Summary of the Genomic Loci Associated with Cluster Headache in Primary Meta‐Analysis of Ten European‐Ancestry Cohorts
| Locus name | Lead variant (Chr:Pos) | EA/NEA (EAF) | OR (95% CI) | p (Het p) | Variant type [Prioritized genes] |
|---|---|---|---|---|---|
| DUSP10 | rs17011182 (1:222164327) | G/A (0.793) | 1.38 (1.29–1.48) | 7.76 × 10−21 (0.58) | Regulatory region [DUSP10] |
| MERTK | rs13399108 (2:112747123) | G/A (0.627) | 1.41 (1.33–1.50) | 1.74 × 10−30 (0.16) | Intron [ MERTK , TMEM87B , FBLN7 , SLC20A1] |
| FTCDNL1 | rs6714578 (2:200485487) | A/G (0.655) | 1.53 (1.43–1.63) | 2.83 × 10−37 (0.65) | Intergenic [ SATB2 ] |
| FHL5 | rs9486725 (6:97061159) | T/C (0.346) | 1.29 (1.21–1.36) | 2.50 × 10−17 (0.29) | Intron [ UFL1 , FHL5, KLHL32, and NDUFAF4] |
| WNT2 | rs2402176 (7:116908448) | C/G (0.291) | 1.20 (1.12–1.27) | 2.61 × 10−8 (0.51) | Intergenic [ CFTR , CAPZA2, ST7] |
| PLCE1 | rs57866767 (10:96023077) | T/C (0.588) | 1.18 (1.12–1.25) | 4.45 × 10−9 (0.51) | Intron [PLCE1] |
| LRP1 | rs11172113 (12:57527283) | T/C (0.600) | 1.18 (1.12–1.25) | 5.15 × 10−9 (0.52) | Intron [ LRP1 ] |
Note: Locus name = the closest protein‐coding gene within a 250‐Kb window. Chr = chromosome; CI = confidence interval; EA = effect allele, which here is set to correspond with the risk allele; EAF = effect allele frequency; Het p = p value from Cochran's Q‐test for heterogeneity; NEA = non‐effect allele; OR = odds ratio; Pos = position (hg19).
Prioritized genes = genes prioritized by at least 1 of 5 complementary methods: (1) expression quantitative trait (eQTL) analysis, (2) transcriptome‐wide association analysis using FUSION, (3) fine‐mapping of causal gene sets (FOCUS), (4) association to genetically driven DNAm (MetaMeth), and (5) protein‐altering variants in high LD (r 2 > 0.8) with lead variant. Genes identified by ≥ 2 of the methods are marked in bold.