Association of phospholipid transfer protein (PLTP) and the effect of genetic variant rs5072 on hypertriglyceridemia and atherogenic dyslipidemia in children and adolescents from Southeastern Mexico.

Introduction: Dyslipidemia is characterized by changes in lipid and lipoprotein levels in the blood where phospholipid transfer protein (PLTP) helps to regulate and modulate the size of high-density lipoproteins (HDL), working on the reverse transport of cholesterol. ApoA-1 is the primary protein component of HDL, and certain genetic variants like rs5072, have been associated with hypertriglyceridemia in children. This study aimed to explore the association between PLTP concentrations and the effect of the genetic variant APOA1 rs5072 on hypertriglyceridemia and atherogenic dyslipidemia (AD) in the pediatric population of Southeastern Mexico.

Materials and methods: A cross-sectional study was carried out with a case-control design for 364 pediatric patients between 2 and 17 years old in Chiapas and Tabasco, Mexico. Serum samples were used to evaluate PLTP concentrations using ELISA kits, and DNA from peripheral blood samples was used to study genetic variation using q-PCR with TaqMan® probes. For statistical analysis, Student t-test for media comparison, Chi-square for frequency and Pearson analysis for correlation was performed. The software SNPStats was used for inheritance models.

Results: Children with hypertriglyceridemia had higher levels of PLTP (8.3 ± 6.5 ng/ml) than the control group (6.4 ± 4.5 ng/ml). Similarly, the pediatric patients with AD had higher PLTP levels of 8.0 ± 6 ng/ml, mainly in children with high triglycerides who were between 10 and 17 years old (9.7 ± 8.0 ng/ml). Also, it was found that the genetic variant rs5072 had a protective effect against hypertriglyceridemia (OR = 0.61, p = 0.024) in the over-dominant inheritance model.

Conclusion: PLTP levels increase in pediatric patients aged 10 to 17 years with a diagnosis of hypertriglyceridemia and AD. The genetic variant rs5072 has a protective effect in hypertriglyceridemia.