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Objective To explore the gene frequency of apolipoprotein A5(APOA5)-1131T>C single nucleotide polymorphisms and its relationship with the fat contents of adult Tibetans in Tibet and Han nationality population in Liaoning province.Methods In 100 Tibetan nationality(the study group) and 100 Han nationality individuals(the control group), the polymorphism of apoa5-1131T>C genotypes was detected by polymerase chain reaction-restricted fragments length polymorphism(PCR-RFLP), and fat contents were got by using bioelectrical impedance measurement.Results Results of fat contents of body, trunk and limbs(left upper limbs, left lower limbs, right upper limbs, right lower limbs and total limbs) were respectively below:① There was significant difference between male TC+CC genotype and TT genotype of Tibetan nationality.There was significant difference between male TT genotype of Tibetan nationality and of Han nationality.② There was significant difference between female TT genetype of Tibetan nationality and of Han nationality except result of the body fat contents.③ There was significant difference between the trunk and total limbs fat contents in male TT genotype, and male TC+CC genotype of Tibetan nationality and of Han nationality, and female TT genotype of Tibetan nationality.Conclusion APOA5 gene-1131T>C affects the body fat contents of Tibetans and Han nationality population, and APOA5 gene-1131T>C probably affects lipopexia in trunk.
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Background: Epidemiologic studies have shown a higher prevalenceof hypertriglyceridemia among patients with CHDthan among unaffected populations. Dozens of polymorphisms in different genesthat could have some effect on plasma TG levels havebeen analyzed. The most promising results are connected withvariants within the apolipoproteins (APO) APOA1/APOC3/ APOA4 gene cluster. Transgenic mice overexpressing human apolipoprotein A5decreased plasma triglyceride concentrations to one-third of those in control mice; conversely, knockout mice lacking APOA5 had four times as much plasma triglycerides as controls.The human APOA5 gene consistsof 4 exons and codes 369 aminoacidprotein, which is expressed almost exclusively in the liver.A minor allele of APOA5 (1259C, IVS3+476A and 1131C) which was independently associated with high plasma triglyceride levels in African-American, non Hispanic whites, Hispanic, Caucasians and Japanese were reported. Four polymorphisms in ApoA5 (1259T>C, IVS3+476G>A, S19W and 1131T>C) has been correlatedwith high TG levels in diabetic women. Materials and Methods: 162 people with MS for case group and 144 people for control group were selected in this study. MS was diagnosed according to IDF criteria and serum triglyceride, total cholesterol and HDL levels were determined. DNA from both case and control subjects were extracted from blood samples (20μL) using “G-spin™ Total DNA Extraction Kit”(iNtRON Biotechnology, Inc).The genotypes for fourpolymorphisms of ApoA5 were determined using a combination of PCR and sequence-specific oligonucleotide probes. Results: There were 304 total subjects included males 50.3% (153) and female 49.7% (151) in our study. The appearance of risk genotypes of 1177C>T, 1259T>C, IVS3+476G>A and 1131T>C polymorphisms in ApoA5 gene were higher in MS group than control group.Serum levels of triglycerides and total cholesterol differed significantly (pC genotypes. Conclusion: TAG and TC level was higher in people with 1131T>C-CC genotype than other genotypes in both groups (p=0.010, p=0.001). We determined that the odds ratio for the hypertriglyceridemia was 5.98 for ApoA5-1131T>C CC-genotype carriers.
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Background. A large number of longitudinal studies indicate significantly increased risk of cardiovascular events and death in people with the MetSyn and high plasma levels of triglycerides are an independent risk factor for the development of cardiovascular disease. Apolipoprotein A5 (APOA5) gene, a new member of the APOA1/C3/A4 gene cluster, was identified by comparative sequencing of human and mice DNA by Pennacchio and co-workers in 2001. Since this discovery, variants of ApoA5 gene have been independently assiociated with level of plasma triglyceride in many countries. Human ApoA5 is expressed in the liver then appears in plasma in association with VLDL and HDL and plays a major role in TG catabolism. Variant at ApoA5 gene locus, 1177C>T is located in 3’ UTR which often contains regulatory regions that influence post-transcriptional gene expression. One alteration can be responsible for the altered expression of many genes. Materials and Methods. 152 people with MS for case group and 152 people for control group were selected in this study. MS was diagnosed according to IDF criteria and serum triglyceride levels were determined. DNA from both case and control subjects were extracted from blood samples (200 ml) using “G-spin™ Total DNA Extraction Kit”(iNtRON Biotechnology, Inc). To detect the 1177C>T variation of ApoA5 gene, using High Pure PCR Template Preparation Kits, a forward primer 5’-CTCTGAGCCTCTAGCATGGTTGAGT- 3’ and the mismatch reverse primer 5’-GAGCATTCCCAAATGAGCAC-3’ were used to create the HinfI restriction site. Results. There were 304 total subjects included males 50.3% (153) and female 49.7% (151) in our study. Incident of CC genotype was 71.1% (216), CT genotype was 25% (76) and TT genotype was 3.9%, TAG level was higher in males than females in both groups (p=0.016, ð=0.001) for CC genotype and also, higher with MS in males for CT genotype (p=). But, TAG level was no significant difference among three genotypes in group with MS subjects (male p=0.236, female p=0.881). Conclusion: The TT genotype of the ApoA5 gene 1177C>T polymorphism frequency was 2.9% in control subjects and 4.9% in subjects with MS. However, TG level was not differ in both groups for TT genotype, TAG level in males was higher compared with females (p=0.016 in control, p=0.001 in group with MS).
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Introducción: Diversas variantes genéticas han sido relacionadas al desarrollo de enfermedad coronaria y/o sus factores de riesgo; entre ellas, los polimorfismos S19W y -1131T>C del gen que codifica para la apolipoproteína A5 (APOA5). Así, el objetivo del presente estudio fue investigar la posible asociación entre las variantes S19W y -1131T>C del gen APOA5 y enfermedad coronaria en individuos chilenos. Métodos: Se evaluaron 425 sujetos adultos, no relacionados; 209 pacientes con enfermedad coronaria (EC) comprobada por angiografía (estenosis→ 70 por ciento), con edades entre 33 y 74 años, y 216 individuos controles (30 a 68 años). La genotipificación de los polimorfismos S19Wy -1131T>C del gen APOA5 fue realizada mediante la técnica de PCR-RFLP Resultados: La distribución de los genotipos para el polimorfismo S19W del gen APOA5 en el grupo casos (SS: 80 por ciento, SW: 19 por ciento y WW: 1 por ciento) y en el grupo control (SS: 82 por ciento, SW: 17 por ciento y WW: 1 por ciento) fue semejante (p=NS). La distribución genotípica para el polimorfismo -1131T>C en pacientes con EC (TT: 56 por ciento, TC: 37 por ciento, y CC: 7 por ciento) y controles (TT: 63 por ciento, TC: 30 por ciento y CC: 7 por ciento) fue similar (p=NS). Las ORs relacionadas a los alelos mutados 19W (1.12; I.C.95 por ciento, 0.72- 1.74, p=NS)y-1131C (1.19; I.C.95 por ciento,, 0.87- 1.63, p=NS), confirman la ausencia de asociación. Por otro lado, las concentraciones de triglicéridos y glucosa en ayunas fueron significativamente más elevadas en los sujetos portadores de los alelos 19Wy -1131C, tanto en casos como en controles (p<0.05). Conclusión: La asociación observada entre las variantes genéticas de APOA5 y las altas concentraciones séricas de triglicéridos y glucosa, en ambos grupos, sugiere que estos polimorfismos podrían contribuir al desarrollo de la dislipidemia diabética; un reconocido factor de riesgo para enfermedad arterial coronaria.
Background: Several genetic variants have been linked to the development of coronary heart disease and/or their risk factors, including the S19Wand-1131T> C polymorphisms of the gene that encodes apolipoprotein A5 (APOA5). Thus, the objective of this study was to investigate the possible association between S19W and -1131T>C genetic variants ofAPOA5 and coronary disease in Chilean individuals. Methods: We evaluated 425 not related subjects; 209 patients with coronary artery disease (CAD) confirmed by angiography (stenosis→ 70 percent,), aged between 33 and 74 years, and 216 control individuals (30 to 68 years). The genotyping of S19W and -1131T>C polymorphisms of APOA5 gene was evaluated by PCR-RFLP. Results: The genotype distribution of S19W polymorphism of APOA5 gene in CAD patients (SS: 80 percent,, SW: 19 percent, WW: 1 percent>) and controls (SS: 82 percent,, SW: 17 percent, WW: 1 percent>) was similar (p = NS). In the same way the genotype distribution of-1131T>C genetic variant in CAD subjects (TT: 56 percent,, TC: 37 percent,, and CC: 7 percent>) and controls (TT: 63 percent,, TC: 30 percent, and CC: 7 percent) was equivalent (p = NS). The Odds ratios related to the mutant alleles 19W (1.12, 95 percent, Cl, 0.72 - 1.74, p = NS) and -1131C (1.19, 95 percent, Cl, 0.87 -1.63, p = NS) confirms the absence of association. On the other hand, the triglycerides and fasting glucose concentrations were significantly higher in subjects carrying the alleles 19W and -1131C, in both groups, CAD patients and controls (p <0.05). Conclusion: The observed association between genetic variants of APOA5 and higher serum levels of triglycerides and glucose, in both groups, suggesting that these polymorphisms could be contribute to the development of diabetic dyslipidemia, a known risk factor for coronary artery disease.