The fatty acid-binding protein 2 (FABP2) A54T polymorphism has been associated with type 2 diabetes mellitus (T2DM) and obesity in many but not all studies. Our aim was to investigate possible associations of FABP2 A54T polymorphism with T2DM and/or obesity in a Greek Caucasian population.
242 subjects with T2DM and 188 control subjects were genotyped for the FABP2 A54T polymorphism using PCR-RFLP method. Of the total subjects included in both groups, 172 were classified as obese (BMI >or= 30 kg/m(2)) and 258 were classified as nonobese (BMI <30 kg/m(2)).
In the whole population, 218 subjects (50.7%) were genotyped as AA, 175 subjects (40.7%) as AT, and 37 subjects (8.6%) as TT for the FABP2 A54T polymorphism. According to the dominant model, the frequency of AA genotype was significantly lower in obese than in nonobese subjects (43.0% vs 55.8%, p=0.009). No significant difference was observed in genotypes between diabetic and nondiabetic subjects. According to the additive model, the presence of TT genotype was significantly associated with obesity after adjusting for age, sex, and the presence of T2DM (OR 2.32, p=0.028).
FABP2 A54T polymorphism may help identify Caucasian subjects at risk for obesity.
"Many polymorphisms in FABP2 gene have already linked with metabolic phenotypes. The most extensively studies polymorphism was Alanine54threnonine (A54T) substitution at codon 54 of exon 2 that results from G to A nucleotide substitution and affects primary protein structure [9,10]. This change affects the ability of the protein to transport dietary fatty acids, which may elevate saturated fatty acids level in the serum which might induce endothelial dysfunction leading to increased cardiovascular mortality . "
[Show abstract][Hide abstract] ABSTRACT: Fatty acid-binding protein 2 (FABP2) is an intracellular protein expressed exclusively in the enterocytes of proximal small intestine. FABP2 has a high affinity for saturated and unsaturated long-chain fatty acids and is believed to be involved in the absorption and transport of dietary fatty acids.
This is a case-control study conceded in 438 T2DM cases and 460 subjects with normal glucose levels and non-obese considered as healthy controls. Allelic discrimination was performed using TaqMan single-nucleotide polymorphism genotyping was carried out by real time-polymerase chain reaction (RT-PCR) assays using purified DNA.
Clinical data and anthropometric measurements except age, weight, height, body mass index and hips of the patients were significantly different from those of the controls (p < 0.05).Statistical analyses failed to show any type of significant association of the polymorphism between cases and controls. However logistic regression analyses was suggests that the TT genotype is significantly associated with male patients (p = 0.001, Table 1). None of the allele or genotypes of FABP2 A54T was associated with T2DM cases versus the controls (AT genotype, OR = 0.85 (0.64-1.12), p = 0.25; TT genotype, OR = 0.66 (0.39-1.11), p = 0.11; T allele, 0.82 (0.67-1.02), p = 0.08).
In conclusion, this study suggests that the above named variant in FABP2 gene is not potential contributor to the risk of T2DM and related traits in a Saudi population. However TT genotype is a risk factor for the disease in males.
Lipids in Health and Disease 04/2014; 13(1):61. DOI:10.1186/1476-511X-13-61 · 2.22 Impact Factor
"# Middle Europeans are from Denmark, Germany, Belgium and Switzerland * Southern Europeans are from Portugal, Italy, Spain and Greece hypertriglyceridemia, obesity, hearing impairment, stroke, and metabolic syndromes         . The Thr polymorphism has been associated with diabetes related variables in Mexican Americans , Pima Indians , Japanese men  , Indian migrants , and various Caucasian populations  . "
[Show abstract][Hide abstract] ABSTRACT: Objective: Intestinal fatty acid binding protein (IFAPB) participates in the uptake, intracellular metabolism and/or transport of long chain fatty acids. A polymorphism at codon 54 in exon 2 of FABP2 gene, which encodes for the IFAPB, exchanges an Alanine for Threonine. FABP2 gene polymorphism could modify the uptake of fatty acids, and it could correlate with risk of several diseases. In the light of the potential role of the FABP2 polymorphism, the aim of this study was to determine the frequency of the Ala54Thr FABP2 polymorphism in two Middle Eastern Arab Populations. Materials and Methods: Genotyping was investigated in 182 and 120 unrelated healthy subjects from Bahrain and Jordan, respectively. A PCR-RFLP assay was applied for determination of Ala54Thr (rs1799883) FABP2 polymorphism. Allele frequencies were calculated by direct counting. Hardy Weinberg Equilibrium was evaluated using a Chi-square goodness of fit test. Results: In the studied Bahraini subjects, 52.8% were homozygous for the Ala54/Ala54 genotype, 35.7% were heterozygous for the Ala54/Thr54 genotype and 11.5% were homozygous for the Thr54/Thr54 genotype. The gene frequencies obtained in Jordanians were: 48.3%, 43.3% and 8.4% for Ala54/Ala54; Ala54/Thr54 and Thr54/Thr54 genotypes, respectively. The frequencies of the allele Ala54 and the allele Thr54 of the FABP2 gene were found to be 0.706 and 0.294 for Bahrainis and 0.700 and 0.300 for Jordanians. These results revealed a similar population polymorphism frequency as in previous European and Arab populations' studies. Conclusion: This is the first study to investigate the population frequency of the Thr54 allele in Bahraini and Jordanian populations.
Türk Biyokimya Dergisi / Turkish Journal of Biochemistry 03/2014; 39(1):57-62. DOI:10.5505/tjb.2014.15870 · 0.20 Impact Factor
"However, our marginally significant inverse association with E4 genotypes and past history of diabetes was consistent with a mouse model demonstrating that APOE deficiency abrogates insulin resistance  and with the observations in humans that the E4 genotypes were associated with a decreased risk and E2 genotypes with an increased risk of diabetes [57, 58]. On the other hand, the associations between the FAPB2 polymorphism and diabetes remain inconsistent  despite the fact that the polymorphism has been associated with postprandial glucose and insulin levels [26, 34, 35]. Our study found the only modest association between T54 allele and family history, which was not confirmed with own history and thus likely to be a chance finding. "
[Show abstract][Hide abstract] ABSTRACT: Dysfunctional lipid metabolism plays a central role in pathogenesis of major chronic diseases, and genetic factors are important determinants of individual lipid profiles. We analyzed the associations of two well-established functional polymorphisms (FABP2 A54T and APOE isoforms) with past and family histories of 1492 population samples. FABP2-T54 allele was associated with an increased risk of past history of myocardial infarction (odds ratio (OR) = 1.51). Likewise, the subjects with APOE4, compared with E2 and E3, had a significantly increased risk of past history myocardial infarction (OR = 1.89). The OR associated with APOE4 was specifically increased in women for past history of myocardial infarction but decreased for gallstone disease. Interactions between gender and APOE isoforms were also significant or marginally significant for these two conditions. FABP2-T54 allele may be a potential genetic marker for myocardial infarction, and APOE4 may exert sex-dependent effects on myocardial infarction and gallbladder disease.
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