Table 1

Genotype–phenotype association analysis for 17q12 microdeletions (n=10) and microduplications (n=100) in participants of European ancestry in the UK Biobank (continuous traits)

PhenotypeDeletionsDuplications
BetaSE95% CIP valueBetaSE95% CIP value
eGFR−1.910.27−2.18 to −1.643×10−12−0.870.08−1.04 to −0.716×10−25
ACR0.450.30−0.14 to 1.041×10−10.400.100.21 to 0.594×10−5
Urea1.840.311.23 to 2.453×10−90.680.100.49 to 0.871×10−12
Total protein−0.270.32−0.90 to 0.354×10−10.360.100.16 to 0.563×10−4
HbA1c1.260.280.71 to 1.817×10−60.110.09−0.07 to 0.293×10−1
CRP−0.470.31−1.08 to 0.141×10−10.440.100.25 to 0.634×10−6
ALP1.520.290.95 to 2.102×10−70.070.09−0.11 to 0.254×10−1
AST0.830.310.22 to 1.437×10−30.210.100.03 to 0.403×10−2
ALT1.150.300.55 to 1.742×10−40.030.09−0.16 to 0.218×10−1
GGT0.810.290.24 to 1.385×10−30.090.09−0.09 to 0.263×10−1
FI−0.300.43−1.15 to 0.545×10−1−0.590.16−0.91 to −0.273×10−4
Years in education−0.850.30−1.44 to −0.274×10−3−0.320.10−0.51 to −0.138×10−4
Job class0.640.49−0.32 to 1.612×10−10.530.130.28 to 0.795×10−5
Income−1.150.35−1.82 to −0.479×10−4−0.230.10−0.44 to −0.032×10−2
TDI0.730.300.15 to 1.321×10−20.240.100.05 to 0.439×10−3
Qualifications−0.860.30−1.45 to −0.274×10−3−0.290.10−0.48 to −0.112×10−3
  • See online supplemental table 1 for phenotype details.

  • ACR, urinary albumin creatinine ratio; ALP, alkaline phosphatase; ALT, alanine aminotransferase; AST, aspartate aminotransferase; beta, regression coefficient; CRP, C reactive protein; eGFR, estimated glomerular filtration rate (mL/min/1.73 m2; Chronic Kidney Disease Epidemiology Collaboration Creatinine-Cystatin 2012); FI, fluid intelligence; GGT, gamma glutamyl transferase; HbA1c, glycated haemoglobin; TDI, Townsend Deprivation Index.