Journal
JOURNAL OF CLINICAL AND TRANSLATIONAL ENDOCRINOLOGY
Volume 16, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.jcte.2019.100186
Keywords
PCSK9; C679X; Fasting glucose; LDL-C; Type 1 diabetes
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Funding
- AWI-Gen Collaborative Centre - National Institutes of Health as part of the H3Africa Consortium [U54HG006938]
- Thuthuka Programme of the South African National Research Foundation (NRF) of South Africa [94007]
- Wellcome Trust (UK)
- South African Medical Research Council
- DST-NRF Centre of Excellence in Mathematical and Statistical Sciences (CoE-MaSS)
- DST-NRF Centre of Excellence in Human Development at the University of the Witwatersrand
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Aim: To evaluate the association between loss-of-function (LOF) PCSK9 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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