# Blood Phytosterol Concentration and Genetic Variant Associations in a Sample Population

## TL;DR

This study explores how genetic variants and factors like cholesterol and BMI affect blood phytosterol levels in a population.

## Contribution

The study identifies specific SNVs and variables associated with plasma phytosterol concentrations, offering insights into potential prevention strategies.

## Key findings

- Cholesterol and age are positively associated with total phytosterol levels, while BMI is negatively related.
- Certain genetic variants, like rs4245791 and rs657152, are linked to lower campesterol concentrations in specific allele carriers.
- Screening SNVs may help prevent elevated plasma phytosterol and PNALD in some patients.

## Abstract

The main objective of this study was to determine plasma levels of PS and to study SNVs rs41360247, rs4245791, rs4148217, and rs11887534 of ABCG8 and the r657152 SNV at the ABO blood group locus in a sample of a population treated at our hospital, and to determine whether these SNVs are related to plasma PS concentrations. The secondary objective was to establish the variables associated with plasma PS concentrations in adults. Participants completed a dietary habit questionnaire and a blood sample was collected to obtain the following variables: campesterol, sitosterol, sitostanol, lanosterol, stigmasterol, biochemical parameters, and the SNVs. In addition, biometric and demographic variables were also recorded. In the generalized linear model, cholesterol and age were positively associated with total PS levels, while BMI was negatively related. For rs4245791, homozygous T allele individuals showed a significantly lower campesterol concentration compared with C homozygotes, and the GG alleles of rs657152 had the lowest levels of campesterol compared with the other alleles of the SNV. Conclusions: The screening of certain SNVs could help prevent the increase in plasma PS and maybe PNALD in some patients. However, further studies on the determinants of plasma phytosterol concentrations are needed.