A rare gene mutation in women (rs150090666) caused higher body fat but also better cholesterol levels (higher HDL, lower TG).
Scientific Claim
A rare stop-gain variant in PDE3B (rs150090666) in females was associated with a large increase in body fat percentage (β=2.02) and favorable lipid profiles (higher HDL, lower TG).
Original Statement
“a rare rs150090666 (Chr11:14,865,399, Freq = 0.001) stop-gain (CGA>TGA, Arg861>*) variant within PDE3B (NP_001350499.1) with a large effect on BFPAdj (β (SE) = 2.02 (0.33), -log10(p) = 9.05) as well as HDL (β (SE) = 0. 458 (0.039), p = 1.40E-32) and TG (β (SE) = -0.418 (0.039), p = 1.66E-27)”
Evidence Quality Assessment
Claim Status
appropriately stated
Study Design Support
Design supports claim
Appropriate Language Strength
association
Can only show association/correlation
Assessment Explanation
The claim accurately describes the observed associations for the rare variant, using appropriate association language without implying causation.
Evidence from Studies
Supporting (1)
Beyond apples and pears: sex-specific genetics of body fat percentage