Table 1 Impact of clinically significant variants on traits.
AMP-T2D-GENES (N = 38,618) | UK Biobank (N = 38,566) | ||||||
|---|---|---|---|---|---|---|---|
Condition (proxy measure) | Gene | N carrier | Beta (se) | P value* | N carrier | Beta (se) | P value* |
High LDL (LDL mg/dL) | composite | 55 | 56.0 (5.2) | 3.9 × 10−24 | 83 | 54.2 (3.9) | 1.6 × 10−44 |
APOB | 11 | 31.5 (12.0) | 8.9 × 10−3 | 26 | 52.2 (6.8) | 2.2 × 10−14 | |
LDLR | 44 | 65.3 (6.3) | 9.0 × 10−25 | 57 | 55.1 (4.7) | 1.1 × 10−31 | |
Low LDL (LDL mg/dL) | composite | 35 | −56.1 (7.1) | 4.4 × 10−15 | 90 | −56.4 (3.7) | 6.9 × 10−52 |
APOB | 8 | −79.8 (14.7) | 5.9 × 10−8 | 48 | −74.5 (5.1) | 6.7 × 10−48 | |
PCSK9 | 27 | −48.7 (8.2) | 2.6 × 10−9 | 42 | −36.1 (5.4) | 2.7 × 10−11 | |
High HDL (HDL mg/dL) | CETP | 21 | 16.5 (3.0) | 3.6 × 10−8 | 20 | 16.8 (2.4) | 2.3 × 10−12 |
High triglycerides (TG mg/dL) | composite | 20 | 130.0 (27.3) | 2.8 × 10−6 | 54 | 126.0 (12.2) | 2.4 × 10−16 |
APOA5 | 15 | 122.4 (29.7) | 2.6 × 10−5 | 38 | 145.5 (13.6) | 2.4 × 10−14 | |
LPL | 5 | 152.8 (54.6) | 2.5 × 10−2 | 16 | 79.3 (22.4) | 9.4 × 10−4 | |
Monogenic obesity (BMI kg/m2) | MC4R | 28 | 1.5 (1.0) | 6.3 × 10−2 | 31 | 2.2 (0.8) | 6.3 × 10−3 |
Condition | Gene | N carrier | OR | P value* | N carrier | OR | P value* |
|---|---|---|---|---|---|---|---|
MODY (diabetes) | composite | 22 | 7.8 (4.2–14.6) | 6.5 × 10−5 | 16 | 21 (12.5–35.2) | 2.6 × 10−8 |
GCK | 7 | 37.4 (6.3–222.0) | 1.3 × 10−3 | 10 | 40.5 (20.3–80.7) | 3.1 × 10−8 | |
HNF1A | 11 | 4.8 (2.2–10.4) | 1.7 × 10−2 | 5 | 9.0 (3.51–22.9) | 2.3 × 10−2 | |
MODY (T2D and prediabetes) | composite | 22 | 4.8 (2.6–8.8) | 2.5 × 10−3 | 16 | 21.5 (11.5–40.4) | 9.1 × 10−9 |
GCK | 7 | 17.8 (3.4–94.0) | 8.2 × 10−3 | 10 | 132.0 (28.7–611.0) | 1.4 × 10−9 | |
HNF1A | 11 | 3.1 (1.5–6.6) | 8.9 × 10−2 | 5 | 5.1 (2.0–12.9) | 6.1 × 10−2 |
