Authors: A. Huertas-Vázquez¹; J. P. del Rincón²; S. Canizales-Quinteros³; L. Riba⁴; G. Vega-Hernández⁵; S. Ramírez-Jiménez⁶; M. Aurón-Gómez²; F. J. Gómez–Pérez²; C. A. Aguilar-Salinas²; M. T. Tusié-Luna

Source: Annals of Human Genetics, Volume 68, Number 5, September 2004 , pp. 419-427(9)

Publisher: Wiley-Blackwell

Abstract:

Summary

Familial combined hyperlipidemia (FCHL) is the most common familial dyslipidemia, with a prevalence of 1-2% in the general population. A major locus for FCHL has been mapped to chromosome 1q21-q23 in Finnish, Chinese, German and US families. We studied seven extended Mexican families with 153 members, including 64 affected subjects. A total of 11 markers were genotyped, including D1S104 which has been linked to FCHL in other studies. Two point linkage analysis for the FCHL phenotype, and for the elevated triglyceride (TG) trait, allowing for heterogeneity, gave a maximum HLOD of 1.67 (= 0.49) and 1.93 (= 0.43) at D1S2768 (2.69 cM proximal to D1S104) respectively. Heterogeneity and non-parametric (NPL) multipoint analyses for the FCHL phenotype and the TG trait showed maximum HLODs of 1.27 (= 0.46) and 1.64 (= 0.38), and NPLs of 4.00 (P = 0.0001) and 3.68 (P = 0.0003) near D1S2768, respectively. In addition, analysis of four candidate genes putatively involved in the expression of FCHL showed no evidence of linkage for the LCAT gene or the APOA1/C3/A4/A5 gene cluster. However, we cannot exclude the participation of these genes, or the LIPC and LPL genes, as minor susceptibility loci in the expression of FCHL, or the TG or elevated total cholesterol (TC) traits in our families. In conclusion, our data confirm the involvement of a major susceptibility locus on chromosome 1q21-q23 in FCHL Mexican families, consistent with findings in other populations.

Keywords: Genetic linkage; candidate genes; dyslipidemia; lipid metabolism

Document Type: Research article

DOI: http://dx.doi.org/10.1046/j.1529-8817.2003.00116.x

Affiliations: 1: Unidad de Biología Molecular y Medicina Genómica del Instituto de Investigaciones Biomédicas de la Universidad Nacional Autónoma de México y del Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City 2: Departamento de Endocrinología y Metabolismo del Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City 3: Unidad de Biología Molecular y Medicina Genómica del Instituto de Investigaciones Biomédicas de la Universidad Nacional Autónoma de México y del Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City 4: Unidad de Biología Molecular y Medicina Genómica del Instituto de Investigaciones Biomédicas de la Universidad Nacional Autónoma de México y del Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City 5: Dirección General de Servicios de Cómputo Académico, Universidad Nacional Autónoma de México, Mexico City 6: Unidad de Biología Molecular y Medicina Genómica del Instituto de Investigaciones Biomédicas de la Universidad Nacional Autónoma de México y del Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City

Publication date: 2004-09-01

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