College of Nursing, University of South Florida, Sarasota, FL 34231, USA.
Biol Res Nurs. 2013 Apr;15(2):160-6. doi: 10.1177/1099800411424487. Epub 2011 Oct 18.
The leading cause of death among women is coronary heart disease (CHD), a multifactorial disease with polygenic heritability estimated at 50%. Polymorphisms in the family with sequence similarity 5, member C' (FAM5C) gene have been associated with myocardial infarction (MI). FAM5C also corresponds directly with the inflammatory biomarker monocyte chemoattractant protein 1 (MCP-1) and metabolic syndrome.
The purpose of this descriptive gene association pilot study was to investigate the variability of FAM5C (rs10920501) in 91 women with CHD. The authors also examined the associations between the variability of FAM5C (rs10920501) and metabolic syndrome, inflammatory markers, and early onset CHD.
No women in this study with the homozygous variant (TT) had an MI. Women with a history of MI and the heterozygous (AT) genotype had a later age of onset of CHD compared to those with the homozygous wild type (AA; F(3, 34) = 5.00, p < .01). These findings suggest a protective effect of the T allele in women with a history of MI. The genotype of FAM5C rs10920501 explained approximately 7% of the variability of age of onset of CHD in women who have had an MI, while holding body mass index (BMI) and smoking history constant. There was no significant relationship between FAM5C (rs10920501) and metabolic syndrome or any inflammatory biomarkers in this sample.
FAM5C remains a gene of interest in a complex disease process.
女性的主要死因是冠心病(CHD),这是一种多因素疾病,遗传率估计为 50%。家族中与序列相似性 5 成员 C'(FAM5C)基因的多态性与心肌梗死(MI)有关。FAM5C 还与炎症生物标志物单核细胞趋化蛋白 1(MCP-1)和代谢综合征直接对应。
本描述性基因关联初步研究的目的是研究 91 名 CHD 女性中 FAM5C(rs10920501)的变异性。作者还研究了 FAM5C(rs10920501)的变异性与代谢综合征、炎症标志物和早发性 CHD 之间的关联。
本研究中没有携带纯合变异(TT)的女性发生 MI。有 MI 病史且杂合子(AT)基因型的女性 CHD 发病年龄晚于纯合野生型(AA;F(3, 34)=5.00,p<.01)。这些发现表明 T 等位基因对有 MI 病史的女性有保护作用。在保持体重指数(BMI)和吸烟史不变的情况下,FAM5C rs10920501 的基因型解释了 MI 女性 CHD 发病年龄变异性的约 7%。在该样本中,FAM5C(rs10920501)与代谢综合征或任何炎症生物标志物之间没有显著关系。
FAM5C 仍然是一种复杂疾病过程中感兴趣的基因。