Original article rs11613352 Polymorphism (TT Genotype) Associates with a Decrease of Triglycerides and an Increase of HDL in Familial Hypercholesterolemia Patients Rosa Aledo, a Teresa Padro ´, a Pedro Mata, b Rodrigo Alonso, b and Lina Badimon a,c, * a Centro de Investigacio ´n Cardiovascular, CSIC-ICCC, IIBSant Pau, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain b Fundacio ´n Jime ´nez Dı´az and Fundacio ´n Hipercolesterolemia Familiar, Madrid, Spain c Ca ´tedra de Investigacio ´n Cardiovascular-Universidad Auto ´noma de Barcelona, Barcelona, Spain Rev Esp Cardiol. 2015;68(4):305–309 Article history: Received 9 December 2013 Accepted 2 April 2014 Available online 30 September 2014 Keywords: Single nucleotide polymorphism High-density lipoprotein cholesterol Triglyceride Familial hypercholesterolemia A B S T R A C T Introduction and objectives: Recent genome-wide association studies have identified a locus on chromosome 12q13.3 associated with plasma levels of triglyceride and high-density lipoprotein cholesterol, with rs11613352 being the lead single nucleotide polymorphism in this genome-wide association study locus. The aim of the study is to investigate the involvement of rs11613352 in a population with high cardiovascular risk due to familial hypercholesterolemia. Methods: The single nucleotide polymorphism was genotyped by Taqman W assay in a cohort of 601 unrelated familial hypercholesterolemia patients and its association with plasma triglyceride and high-density lipoprotein cholesterol levels was analyzed by multivariate methods based on linear regression. Results: Minimal allele frequency was 0.17 and genotype frequencies were 0.69, 0.27, and 0.04 for CC, CT, and TT genotypes, respectively. The polymorphism is associated in a recessive manner (TT genotype) with a decrease in triglyceride levels (P = .002) and with an increase in high-density lipoprotein cholesterol levels (P = .021) after adjusting by age and sex. Conclusions: The polymorphism rs11613352 may contribute to modulate the cardiovascular risk by modifying plasma lipid levels in familial hypercholesterolemia patients. ß 2014 Sociedad Espan ˜ola de Cardiologı ´a. Published by Elsevier Espan ˜a, S.L.U. All rights reserved. El polimorfismo rs11613352 (genotipo TT) se asocia con disminucio ´n de triglice ´ ridos y aumento de HDL en pacientes con hipercolesterolemia familiar Palabras clave: Polimorfismo de un solo nucleo ´ tido Colesterol unido a lipoproteı ´nas de alta densidad Triglice ´ ridos Hipercolesterolemia familiar R E S U M E N Introduccio ´n y objetivos: Estudios recientes de asociacio ´n de genoma completo han identificado un locus en el cromosoma 12q.13.3 asociado con las concentraciones plasma ´ ticas de triglice ´ ridos y colesterol unido a lipoproteı ´nas de alta densidad; rs11613352 es el polimorfismo de un solo nucleo ´ tido lı ´der en dicho locus. El objetivo del estudio es investigar la implicacio ´n de rs11613352 en una poblacio ´n con elevado riesgo cardiovascular por hipercolesterolemia familiar. Me ´todos: Se genotipifico ´ mediante ana ´ lisis Taqman W el polimorfismo de un solo nucleo ´ tido en una cohorte de 601 pacientes con hipercolesterolemia familiar no relacionados, y se analizo ´ su asociacio ´n gene ´ tica con las concentraciones plasma ´ ticas de triglice ´ ridos y colesterol unido a lipoproteı ´nas de alta densidad, mediante me ´ todos multivariables basados en regresio ´n lineal. Resultados: La frecuencia ale ´ lica mı ´nima fue de 0,17 y las frecuencias genotı ´picas, 0,69, 0,27 y 0,04 para los genotipos CC, CT y TT respectivamente. El polimorfismo se asocio ´ de manera recesiva (genotipo TT) con disminucio ´n de los triglice ´ ridos (p = 0,002) y aumento de colesterol unido a lipoproteı ´nas de alta densidad (p = 0,021) tras ajustar por edad y sexo. Conclusiones: El polimorfismo rs11613352 puede contribuir a modular el riesgo cardiovascular al modificar las concentraciones plasma ´ ticas de lı ´pidos en los pacientes con hipercolesterolemia familiar. ß 2014 Sociedad Espan ˜ola de Cardiologı ´a. Publicado por Elsevier Espan ˜a, S.L.U. Todos los derechos reservados. * Corresponding author: Centro de Investigacio ´n Cardiovascular, CSIC-ICCC, IIBSant Pau, Hospital de la Santa Creu i Sant Pau, Sant Antoni Maria Claret 167, 08025 Barcelona, Spain. E-mail address: lbadimon@csic-iccc.org (L. Badimon). http://dx.doi.org/10.1016/j.rec.2014.04.015 1885-5857/ß 2014 Sociedad Espan ˜ola de Cardiologı ´a. Published by Elsevier Espan ˜a, S.L.U. All rights reserved. Document downloaded from https://www.revespcardiol.org/, day 13/12/2021. This copy is for personal use. Any transmission of this document by any media or format is strictly prohibited. Document downloaded from https://www.revespcardiol.org/, day 13/12/2021. This copy is for personal use. Any transmission of this document by any media or format is strictly prohibited.