The Role Of rs1799883 Polymorphism Of The FABP2 Gene In The Pathogenesis Of Nosological Syntropy Of Gallstone Disease And Metabolic Syndrome

Objective: to study the role of the rs1799883 polymorphism of the FABP2 gene in the pathogenesis of gallstone disease in combination with MS. Material and methods. Molecular genetic studies were carried out in the Department of Molecular Medicine and Cell Technologies of the RSNPMC Hematology. The analysis of the associations of the rs1799883 polymorphisms of the FABP2 gene was carried out using a case-control model. The main group consisted of 118 patients with cholelithiasis in combination with MS living in the Khorezm region. Results: As a result of our research, we identified a significant association of the homozygous genotype for the Thr allele with the development of gallstone disease in combination with MS. The indicator of the ratio of the chances of developing gallstone disease in combination with MS in carriers of this genotype was OR = 2.9 at 95% CI: 1.122- 7.424. The relative risk of disease was RR = 2.5 with 95% CI: 1.11-5.76. Conclusion: Our results allow us to conclude that the homozygous Thr/Thr genotype plays an important role in the formation of gallstone disease and obesity in people of Uzbek nationality.

The A54T polymorphism in the FABP2 gene and its relationship with obesity

Introducción: La obesidad es una enfermedad compleja, multifactorial y en su mayor parte prevenible que afecta, a más de un tercio de la población mundial actual. Las variaciones en la secuencia de nucleótidos de los genes de control del metabolismo y del apetito se consideran hasta ahora como factores no modificables y se asocian con alteraciones del IMC, del perfil lipídico y de la circunferencia abdominal. Métodos: Se realizó una investigación analítica, no experimental y transversal con el propósito de evaluar la presencia del polimorfismo A54T en el gen FABP en una submuestra del Estudio de Prevalencia del Síndrome Metabólico de la Ciudad de Maracaibo. Resultados: De los 154 individuos de la submuestra ocho sujetos fueron portadores del polimorfismo A54T, es decir, una frecuencia genotípica de 5,19 %, con una distribución por sexo de 50 % para las mujeres (n=4) y 50 % (n=4) para los hombres. Con respecto al grado de similitud de los alelos, el 75 % (n=6) eran homocigotos y el 25 % (n=2) heterocigotos. El diagnóstico de obesidad a lo largo del IMC sólo estuvo presente en el 12,50 % (n=1) de los portadores de A54T. Por el contrario, el 25 % (n=2) de los portadores tenían sobrepeso; el 50 % (n=4) se presentaron como personas de peso normal; y sólo el 12,50 % (n=1) en la categoría de peso insuficiente. Conclusión: No se encontró una asociación entre el polimorfismo de Ala54Thr y la obesidad. Este resultado refuerza el carácter multifactorial de estas enfermedades y que un estado portador de este polimorfismo no es causa necesaria para padecer obesidad, al menos, en nuestro medio.

Postprandial Hypertriglyceridemia Is Associated with the Variant 54 Threonine FABP2 Gene

Purpose: Fasting or postprandial hypertriglyceridemia is considered an independent cardiovascular disease (CVD) risk factor. The intestinal fatty acid binding protein (FABP2) is involved in the intracellular transport and metabolism of fatty acids. The presence of the Ala54Thr polymorphism of the FABP2 gene appears to be involved in postprandial hypertriglyceridemia. We explored the possible association of the Ala54Thr polymorphism with fat intolerance in apparently healthy, fasting, normolipidemic subjects with normal body-mass index and without diabetes. Methodology: A total of 158 apparently healthy individuals were classified as fat tolerant (n = 123) or intolerant (n = 35) according to their response (plasma triglycerides) to an oral abbreviated tolerance test with blood samples taken at 0, 2 and 4 h. At 0 h, all subjects ingested 26.3 g of fats. Presence of the Ala54Thr polymorphism of the FABP2 gene was evaluated by polymerase chain reaction–restriction fragment length (PCR–RFLP). Results: The group with fat intolerance (postprandial hypertriglyceridemia group) showed an increased frequency of the Thr54Thr genotype when compared with the group with normal fat tolerance (control group) (23% vs. 4%, respectively, OR: 16.53, 95% CI: 4.09–66.82, p: 0.0001, pc: 0.0003). Carriers of at least one Thr54 allele were up to six times more prevalent in the fat intolerant group than in the non-carriers. (OR: 6.35; 95% CI: 1.86–21.59, p: 0.0003, pc: 0.0009). The levels of plasma triglycerides (Tg) at 4 h after the test meal were higher in carriers of at least one 54Thr allele than in carriers of the Ala54 allele (p < 0.05). Conclusions: There is a significant association between postprandial hypertriglyceridemia and the presence of at least one 54Thr allele of the FABP2 gene. In addition, subjects with this genotype showed an increased ratio of Tg/HDL-cholesterol. This parameter is a marker of increased CVD risk and insulin resistance.