Frequency of common polymorphisms in Caveolin 1 (CAV1) gene in adults with high serum triglycerides from Colombian Caribbean Coast.
Background: Caveolin 1 gene (CAV1) has been associated with insulin resistance, metabolic syndrome and hypertension in humans. Also, it has been related to high serum triglycerides in rodents, however there is little evidence of this relation in humans. Aim: To describe frequencies of common variati...
| Publicado en: | Colombia Medica Vol. 48; no. 4; pp. 166 - 173 |
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| Autores principales: | , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Universidad del Valle
2017
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=129125585&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 129125585 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 01208322 165D jtl: Colombia Medica issn: 01208322 maglogo: N pubinfo: dt: 2017 vid: 48 iid: 4 pid: 19876 pub: Universidad del Valle artinfo: ui: 129125585 129125585 129125585 10.25100/cm.v48i4.2625 129125585 ppf: 166 ppct: 7 formats: fmt: @attributes: type: P db: lth ui: 129125585 tig: atl: Frequency of common polymorphisms in Caveolin 1 (CAV1) gene in adults with high serum triglycerides from Colombian Caribbean Coast. aug: au: Mora-Garcia, Gustavo Jose Ruiz-Diaz, Maria Stephany Gomez-Camargo, Doris Esther Gomez-Alegria, Claudio Jaime affil: Doctorado en Medicina Tropical, Facultad de Medicina, Universidad de Cartagena, Cartagena de Indias, Colombia sug: subj: Triglycerides Blood Polymorphism, Genetic In Adulthood Carrier Proteins Human West Indies Adult Case Control Studies Blood Glucose Lipoproteins, HDL Cholesterol Blood Genotype Hyperlipidemia Risk Factors Alleles Gene Expression Adult: 19-44 years ab: Background: Caveolin 1 gene (CAV1) has been associated with insulin resistance, metabolic syndrome and hypertension in humans. Also, it has been related to high serum triglycerides in rodents, however there is little evidence of this relation in humans. Aim: To describe frequencies of common variations in CAV1 in adults with high serum triglycerides. Methods: A case-control study was carried out with adults from Colombian Caribbean Coast. A whole blood sample was employed to measure serum concentrations of triglycerides, glucose, total cholesterol and HDLc. Six common Single Nucleotide Polymorphism (SNP) in CAV1 were genotyped (rs926198, rs3779512, rs10270569, rs11773845, rs7804372 and rs1049337). Allelic and genotypic frequencies were determined by direct count and Hardy-Weinberg Equilibrium (HWE) was assessed. Case and control groups were compared with null-hypothesis tests. Results: A total of 220 cases and 220 controls were included. For rs3779512 an excess in homozygotes frequency was found within case group (40.4% (GG), 41.3% (GT) and 18.1% (TT); Fis=0.13, p=0.03). Another homozygotes excess among case group was found in rs7804372 (59.5% (TT), 32.3% (TA) and 8.2% (AA); Fis= 0.12, p= 0.04). In rs1049337, cases also showed an excess in homozygotes frequency (52.7% (CC), 35.0% (CT) and 12.3% (TT); Fis= 0.16, p= 0.01). Finally, for rs1049337 there were differences in genotype distribution between case and control groups (p <0.05). Conclusion: An increased frequency of homozygote genotypes was found in subjects with high serum triglycerides. These findings suggest that minor alleles for SNPs rs3779512, rs7804372 and rs1049337 might be associated to higher risk of hypertriglyceridemia. Introducción: En humanos, el gen Caveolina 1 (CAV1) ha sido asociado con resistencia a la insulina, síndrome metabólico e hipertensión. Además, ha sido relacionado con hipertrigliceridemia en roedores, sin embargo existe poca evidencia de esta relación en humanos. Objetivo: Describir la frecuencia de variaciones comunes del gen CAV1 en adultos con hipertrigliceridemia. Métodos: Se realizó un estudio de casos y controles con adultos del Caribe Colombiano. Fue usada una muestra de sangre venosa periférica para medir las concentraciones séricas de triglicéridos, glucosa, colesterol total y colesterol HDL. Fueron genotipificados seis Polimorfismos de Nucleótido Simple (SNP) en CAV1 (rs926198, rs3779512, rs10270569, rs11773845, rs7804372 y rs1049337). Las frecuencias alélicas y genotípicas se determinaron por conteo directo y se evaluó el equilibrio de Hardy-Weinberg. Los grupos de casos y controles se compararon con pruebas de hipótesis nula. Resultados: Se incluyeron un total de 220 casos y 220 controles. Para rs3779512 se encontró un exceso de homocigotos en el grupo de casos (40.4% (GG), 41.3% (GT) y 18.1% (TT); Fis= 0.13, p= 0.03). Fue encontrado otro exceso de homocigotos en el grupo de casos al analizar el rs7804372 (59.5% (TT), 32.3% (TA) y 8.2% (AA); Fis= 0.12, p= 0.04). En rs1049337, los casos también tuvieron un exceso en la frecuencia de homocigotos (52.7% (CC), 35.0% (CT) y 12.3% (TT); Fis= 0.16, p= 0.01). Finalmente, hubo diferencias en la distribución genotípica del rs1049337 entre los grupos de casos y controles (p <0.05). Conclusiones: Se encontró una elevada frecuencia de homocigotos en los sujetos con hipertrigliceridemia. Estos hallazgos sugieren que los alelos menores de los SNPs rs3779512, rs7804372 y rs1049337 podrían estar asociados con trigliceridemia elevada. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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