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Open Access Research article

Polymorphism of the FABP2 gene: a population frequency analysis and an association study with cardiovascular risk markers in Argentina

Laura C Gomez1, Sebastián M Real1, Marta S Ojeda2, Sergio Gimenez3, Luis S Mayorga1 and María Roqué1*

Author Affiliations

1 Laboratory of Cellular and Molecular Biology, Faculty of Medical Sciences, National University of Cuyo, Mendoza CP:5500, Argentina

2 Faculty of Chemistry, Biochemistry and Pharmacy, National University of San Luis, San Luis, Argentina

3 Sanatorio Fleming-OSEP, Mendoza, Argentina

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BMC Medical Genetics 2007, 8:39  doi:10.1186/1471-2350-8-39

Published: 26 June 2007



The FABP2 gene encodes for the intestinal FABP (IFABP) protein, which is expressed only in intestinal enterocytes. A polymorphism at codon 54 in exon 2 of the FABP2 gene exchanges an Alanine (Ala), in the small helical region of the protein, for Threonine (Thr). Given the potential physiological role of the Ala54Thr FABP2 polymorphism, we assess in this study the local population frequency and analyze possible associations with five selected markers, i.e. glycemia, total cholesterol, body mass index (BMI), hypertension, and high Cardiovascular Risk Index (CVR index).


We studied 86 men and 116 women. DNA was extracted from a blood drop for genotype analysis. Allele frequencies were calculated by direct counting. Hardy Weinberg Equilibrium was evaluated using a Chi-square goodness of fit test.

For the polymorphism association analysis, five markers were selected, i.e. blood pressure, Framingham Risk Index, total cholesterol, BMI, and glycemia.

For each marker, the Odds Ratio (OR) was calculated by an online statistic tool.


Our results reveal a similar population polymorphism frequency as in previous European studies, with q = 0.277 (95% confidence limits 0.234–0.323). No significant association was found with any of the tested markers in the context of our Argentine nutritional and cultural habits. We did, however, observe a tendency for increased Cholesterol and high BMI in Thr54 carriers.


This is the first study to look at the population frequency of the Thr54 allele in Argentina. The obtained result does not differ from previously reported frequencies in European populations. Moreover, we found no association between the Thr54 allele and any of the five selected markers. The observed tendency to increased total cholesterol and elevated BMI in Thr54 carriers, even though not significant for p < 0.1 could be worth of further investigation to establish whether the Thr54 variant should be taken into consideration in cardiovascular prevention strategies.