A GWAS study of caucasian women from the Women’s Health Study. The locus associated with this variant was associated with plasma triglycerides with a p-value of 4.7 * 10^-11. The proportion of the residual variance explained by this locus was only 0.50%. This variant was inversely related to triglyceride levels with a beta coefficient of −0.09 (but this explains only 0.5% of triglycerides variation).
This variant is referred to as S447X, indicating we have inconsistency on the amino acid position in the literature. They report a triglyceride levels lowering effect with p < 0.0001. They report the following triglyceride means and 95% confidence intervals: 447SS: 1.15 (1.12-1.19), 447SX: 1.02 (0.96-1.07), 447XX: 0.90 (0.75-1.10). The odds ratio for having hypertriglyceridaemia for carrying this variant alone failed to be significant, although the combined case of this variant and rs320 had weak evidence (p = 0.041).