Aim: To evaluate the association between loss-of-function (LOF) variants (A433T/rs28362263 and C679X/rs28362286) and biomarkers of cardiometabolic risk, specifically fasting glucose and low density lipoprotein cholesterol (LDL-C) concentrations.

Methods: Our study comprised 757 male and female black South African adolescents (mean age 18.0 ± 0.5 years) who are part of the Birth to Twenty Plus Cohort and had been genotyped for the two above-mentioned variants. Anthropometric measures were completed and fasting plasma glucose and lipid analysis were performed using standard procedures.

Results: The median and interquartile range of fasting glucose and LDL-C for the whole group were 4.60 (4.36-4.88) mmol/L and 1.67 (1.25-2.14) mmol/L, respectively. After adjusting for sex, association between the biomarkers and A443T was not significant. However, C679X carriers displayed 0.30 [95% CI (-0.57, -0.02); p = 0.035] mmol/L lower fasting glucose and 0.50 [95% CI (-0.74, -0.26); p < 0.001) mmol/L lower LDL-C concentrations compared to non-carriers.

Conclusions: Our results indicate for the first that the C679X variants associated with low fasting glucose levels during adolescents as had been known for LDL-C. In view that a similar finding was reported in older black South African adults, therefore, the correlation of lower fasting glucose and LDL-C levels with C679X is observed from an early age to adulthood.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407309PMC
http://dx.doi.org/10.1016/j.jcte.2019.100186DOI Listing

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