哥伦比亚加勒比海岸高血清甘油三酯成年人中（ ）基因常见多态性的频率
Frequency of common polymorphisms in ( ) gene in adults with high serum triglycerides from Colombian Caribbean Coast.
作者信息
Mora-Garcia Gustavo Jose, Ruiz-Diaz Maria Stephany, Gomez-Camargo Doris Esther, Gomez-Alegria Claudio Jaime
机构信息
Doctorado en Medicina Tropical, Facultad de Medicina, Universidad de Cartagena,Cartagena de Indias, Colombia.
Grupo de Investigación UNIMOL . Departamento de Farmacia, Facultad de Ciencias, Universidad Nacional de Colombia. Bogotá, Colombia.
出版信息
Colomb Med (Cali). 2017 Dec 30;48(4):167-173. doi: 10.25100/cm.v48i4.2625.
BACKGROUND
Caveolin 1 gene () 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 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 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); F=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); F= 0.12, = 0.04). In rs1049337, cases also showed an excess in homozygotes frequency (52.7% (CC), 35.0% (CT) and 12.3% (TT); F= 0.16, = 0.01). Finally, for rs1049337 there were differences in genotype distribution between case and control groups ( <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.
背景
小窝蛋白1基因（）与人类的胰岛素抵抗、代谢综合征及高血压相关。此外，它还与啮齿动物的高血清甘油三酯有关，然而在人类中，这种关联的证据很少。
目的
描述高血清甘油三酯成年人中常见变异的频率。
方法
对来自哥伦比亚加勒比海岸的成年人进行了一项病例对照研究。采集全血样本以测量血清甘油三酯、葡萄糖、总胆固醇和高密度脂蛋白胆固醇的浓度。对小窝蛋白1基因中的六个常见单核苷酸多态性（SNP）进行基因分型（rs926198、rs3779512、rs10270569、rs11773845、rs7804372和rs1049337）。通过直接计数确定等位基因和基因型频率，并评估哈迪-温伯格平衡（HWE）。通过无效假设检验比较病例组和对照组。
结果
共纳入220例病例和220例对照。对于rs3779512，在病例组中发现纯合子频率过高（40.4%（GG）、41.3%（GT）和18.1%（TT）；F = 0.13，p = 0.03）。在rs7804372的病例组中也发现了另一种纯合子过多的情况（59.5%（TT）、32.3%（TA）和8.2%（AA）；F = 0.12，= 0.04）。在rs1049337中，病例组的纯合子频率也过高（52.7%（CC）、35.0%（CT）和12.3%（TT）；F = 0.16，= 0.01）。最后，对于rs1049337，病例组和对照组之间的基因型分布存在差异（<0.05）。
结论
在高血清甘油三酯的受试者中发现纯合子基因型频率增加。这些发现表明，SNP rs3779512、rs7804372和rs1049337的次要等位基因可能与高甘油三酯血症的较高风险相关。
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