Molecular and in vivo phenotyping of missense variants of the human glucagon receptor.

When grouping variants by functional consequence and burden testing for association with metabolic and cardiovascular phenotypes, cAMP LoF variants suggest a near-significant trend toward higher body mass index (BMI) (effect size in SD of phenotype (β): 0.22; confidence interval [CI] = −0.02, 0.46; p = 0.072), body fat percentage (β: 0.14; CI = −0.05, 0.33; p < 0.139), diastolic blood pressure (β: 0.34; CI = 0.09, 0.58; p = 0.007), and systolic blood pressure (β: 0.23; CI = 0.00, 0.46; p = 0.046) ( Fig. 6 , A and B ).

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