TABLE II.
Results of rare-variant, gene-based association studies
| Trait | Gene* | Location | # Var | Coding P value | Noncoding P value | P value |
|---|---|---|---|---|---|---|
| Blood neutrophil count | USF1 | 1q23.3 | 79 | .98 | 1.15 × 10−9 | 2.18 × 10−7 |
| Total IgE | TNFRSF21 | 6p12.3 | 794 | .24 | 5.90 × 10−6 | 6.47 × 10−6 |
| Feno | CTBP1-AS | 4p16.3 | 151 | .72 | 3.26 × 10−5 | 2.34 × 10−5 |
| FEV1/FVC | VRK3 | 19q13.33 | 547 | .04 | 3.59 × 10−5 | 3.15 × 10−5 |
| Bronchodilator response | MRPL44 | 2q36.1 | 129 | 1.68 × 10−3 | 3.68 × 10−5 | 3.44 × 10−5 |
| Blood eosinophil count | PIK3R6 | 17p13.1 | 608 | 8.93 × 10−3 | 5.12 × 10−5 | 4.10 × 10−5 |
| FEV1 % predicted | TEX36-AS1 | 10q26.13 | 93 | NA | 8.61 × 10−5 | 6.08 × 10−5 |
| Allergen sensitization | VAMP3 | 1p36.23 | 124 | 0.75 | 3.96 × 10−5 | 6.42 × 10−5 |
The most significant gene association for each trait is given. For each quantitative trait, the gene, location, number of variants in the gene set (# Var), P value in analyses considering just coding or just noncoding variants in the variant set, and the overall P value are given. One association (USF1 with blood neutrophil count, P = 2.18 ×10−7) met the Bonferroni-adjusted significance threshold of 2.51 × 10−7. The full results are presented in Table E2. The 3 bolded associations are the results with support from external sources and are described in further detail.
FENO, Fractional exhaled nitric oxide; FVC, forced vital capacity.
CTBP1-AS, C-terminal binding protein 1 antisense RNA; VRK3, vaccinia-related kinase 3; MRPL44, mitochondrial ribosomal protein L44; TEX36-AS1, testis expressed protein 36 antisense RNA 1.