Table 2.
Self-reported clinical features among ClinSeq participants with and without identified TPSAB1 duplication on a single allele
| Manifestation |
TPSAB1 duplication (αα)
|
WT TPSAB1
|
OR
|
RR
|
|||||
|---|---|---|---|---|---|---|---|---|---|
| n | % | n | % | Value | Range | Value | Range | P value | |
| Systemic venom reactiona | 2/9 | 22 | 2/82 | 2 | 11.4 | 1.4–94.0 | 9.1 | 1.5–57.1 | 0.047 |
| Flushing/pruritus | 5/9 | 55 | 13/82 | 16 | 6.6 | 1.6–28.1 | 3.5 | 1.6–7.6 | 0.014 |
| IBS (Rome III) | 3/9 | 33 | 6/82 | 7 | 6.3 | 1.3–31.9 | 4.6 | 1.4–15.2 | 0.042 |
| Chronic gastroesophageal reflux symptoms | 7/9 | 77 | 39/82 | 48 | 3.9 | 0.8–19.7 | 1.6 | 1.1–2.5 | 0.158 |
| Congenital skeletal abnormalityb | 1/9 | 11 | 3/82 | 4 | 3.3 | 0.3–35.5 | 3.0 | 0.4–26.2 | 0.346 |
| Retained primary dentition | 3/9 | 33 | 4/82 | 5 | 9.8 | 1.8–54.0 | 6.8 | 1.8–25.8 | 0.020 |
| COMPASS 31c | 4/9 | 44 | 11/82 | 13 | 5.2 | 1.2–22.3 | 3.3 | 1.3–8.3 | 0.038 |
| Arthralgia | 4/9 | 44 | 25/82 | 30 | 1.8 | 0.5–7.4 | 1.5 | 0.6–3.2 | 0.459 |
| Body pain/headache | 3/9 | 33 | 12/82 | 15 | 2.9 | 0.6–13.3 | 2.3 | 0.8–6.6 | 0.165 |
| Sleep disruption | 2/9 | 22 | 21/82 | 26 | 0.8 | 0.2–4.3 | 0.9 | 0.2–3.1 | 1.000 |
IBS, irritable bowel syndrome; OR, odds ratio; RR, relative risk. Statistically significant differences are marked in bold.
a
Systemic immediate hypersensitivity reaction consistent with IgE-mediated response to stinging insects, as described in the Supplementary Note.
b
Spina bifida occulta, congenital absence of spinous process, pectus excavatum, and tibial torsion.
c
Number of individuals with a composite score above the upper 95% confidence interval of the median established in a healthy control cohort without increased copy number of TPSAB1.