Table 2.
Genes and communities identified in the Pain Questionnaire cohort associated with phenotypic and clinical features
Gene | SNP (Most severe variant consequence—VEP) | SNP minor allele frequency | Gene association with phenotypic or clinical feature (p-value before multiple testing correction) | Community | Community association with phenotypic or clinical feature (p-value before multiple testing correction) | Gene association replicated in disjoint Verbal Interview Cohort |
---|---|---|---|---|---|---|
S100PBP | rs41306603 (3 prime UTR variant) | 0.052 | Males (p = 0.022) | 1 | Males (p = 0.016) | No |
ATP9A | rs2904106 (intron variant) | 0.271 | Males (p = 0.016) | 1 | Males (p = 0.016) | Yes |
KCNB1 | rs237475 (intron variant) | 0.472 | Males (p = 0.016) | 1 | Males (p = 0.016) | No |
CLOCK | rs6832769 (3 prime UTR variant) | 0.362 | Fibromyalgia, ICD-10: M79.7 (p = 0.026); Other soft tissue disorders, ICD-10: M79 (p = 0.044) | 2 | Fibromyalgia, ICD-10: M79.7 (p = 0.026); Other soft tissue disorders, ICD-10: M79 (p = 0.044) | No |
SLC15A4 | rs2398428 (intergenic variant) | 0.269 | 3 | No | ||
TMEM232 | rs58264436 (intergenic variant) | 0.394 | 6 | No | ||
GPC5 | rs16947237 (intron variant) | 0.155 | 7 | No | ||
PHACTR2 | rs9403525 (intron variant) | 0.448 | Thyroiditis, ICD10-10: E06 (p = 0.033) | 8 | Thyroiditis, ICD10-10: E06 (p = 0.033) | No |
AKAP1 | rs3785477 (intron variant) | 0.398 | 9 | No | ||
USP6NL | rs2499908 (intergenic variant) | 0.235 | 12 | No | ||
CDON | rs73021223 (intron variant) | 0.093 | Illness, injury, bereavement, stress in last 2 years 2014 + (p = 0.023) | 13 | No | |
INSR | rs59165976 (intron variant) | 0.388 | 14 | No | ||
SLC6A11 | rs2304725 (synonymous variant) | 0.319 | Phenylalanine levels in plasma (p = 0.022); Illness, injury, bereavement, stress in last 2 years 2019 + (p = 0.003) | 15 | Illness, injury, bereavement, stress in last 2 years 2019 + (p = 0.003) | Yes |
SULF2 | rs56218501/ Affx-16805420 (missense variant) | 0.213 | Phenylalanine levels in plasma (p = 0.022); Illness, injury, bereavement, stress in last 2 years 2019 + (p = 0.003) | 15 | Illness, injury, bereavement, stress in last 2 years 2019 + (p = 0.003) | No |