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

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BMC Medical Genetics

, 8:39

First Online: 26 June 2007Received: 25 January 2007Accepted: 26 June 2007


BackgroundThe 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.

MethodsWe 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.

ResultsOur 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.

ConclusionThis 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.

Electronic supplementary materialThe online version of this article doi:10.1186-1471-2350-8-39 contains supplementary material, which is available to authorized users.

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Author: Laura C Gomez - Sebastián M Real - Marta S Ojeda - Sergio Gimenez - Luis S Mayorga - María Roqué

Source: https://link.springer.com/

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