Genetic variants in Apolipoprotein AV alter triglyceride concentrations in pregnancy

The -1131T>C and S19W variants have rare allele frequencies of 6.7% and 4.9% and are present in 13.4% and 9.7% of subjects respectively. In carriers of the -1131C and 19W alleles triglyceride concentrations were raised by 11.0% (1.98 mmol/ l(1.92 – 2.04) to 2.20 mmol/l (2.01 – 2.42), p = 0.035; and 16.2% (1.97 mmol/l (1.91 – 2.03) to 2.29 mmol/l (2.12 – 2.48), p < 0.001 respectively. There is nominally significant evidence that the -1131T>C variant is having an effect on maternal height (164.9 cm (164.3 – 165.5) to 167.0 cm (165.2 – 168.8), p = 0.029). There was no evidence that ApoAV genotype alters any other anthropometric measurements or biochemistries such as High Density Lipoprotein Cholesterol (HDL-C) or Low Density Lipoprotein Cholesterol (LDL-C). There is nominally significant evidence that the presence of a maternal -1131C variant alters fetal birth length (50.2 cm (50.0 – 50.4) to 50.9 cm (50.3 – 51.4), p = 0.022), and fetal birth crown-rump length (34.0 cm (33.8 – 34.1) to 34.5 cm (34.1 – 35.0), p = 0.023). There is no evidence that ApoAV genotype alters fetal birth weight or other fetal growth measurements.In conclusion variation in the ApoAV gene raises triglyceride concentrations in pregnancy, as well as normolipaemic states and there is preliminary evidence that it alters fetal growth parameters.Triglycerides are a key fetal fuel in pregnancy. Triglyceride concentrations are raised in pregnancy due to the overproduction of triglyceride rich very low-density lipoprotein (VLDL) cholesterol [1]. Pregnancy also elevates total and low-density lipoprotein (LDL) cholesterols [2] and lowers high-density lipoprotein (HDL) cholesterol [1]. Triglyceride concentrations increase gradually with the duration of pregnancy with significant increases during the second trimester [2]. Triglyceride and cholesterol concentrations return to pre-pregnant concentrations 20–24 weeks post partum [2], with a rapid reduction in triglycerides and cholesterol in breast-feeding moth