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Frequency of common polymorphisms in Caveolin 1 (CAV1) gene in adults with high serum triglycerides from Colombian Caribbean Coast.
Mora-Garcia, Gustavo Jose; Ruiz-Diaz, Maria Stephany; Gomez-Camargo, Doris Esther & Gomez-Alegria, Claudio Jaime
Abstract
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.
Keywords
Hypertriglyceridemia; Caveolin 1; single nucleotide polymorphism; Caribbean region; Colombia; metabolic diseases
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