Mota-Vieira Luisa, Duarte Joana, Catena Xavier, Gonzalez Jaime, Capocci Andrea, Branco Cláudia C
Molecular Genetics and Pathology Unit, Hospital of Divino Espirito Santo of Ponta Delgada EPER, Azores, 9500-782 Ponta Delgada, Portugal.
BioISI-Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, 1749-016 Lisbon, Portugal.
Curr Issues Mol Biol. 2025 Aug 6;47(8):625. doi: 10.3390/cimb47080625.
The frequency of specific variants associated with the risk of developing cardiovascular diseases has been extensively studied through genome-wide association studies (GWASs). Differences between populations may be caused by the interaction of several factors, such as environmental and genetic backgrounds. Here, we studied 19 SNPs involved in atherosclerosis (AT) and venous thromboembolism (VTE) risk in the Azorean and mainland Portuguese populations and compared their frequencies with other European, Asian, and African populations. Results revealed that, although there was no difference between Azorean and mainland populations, eight SNPs in , , , and genes showed significant statistical differences (χ, < 0.05) when compared with the European population. The multilocus genetic profile (MGP) analysis demonstrated that 7.4% of mainlanders and 11.2% of Azoreans have a high-risk of developing atherosclerosis. The opposite tendency was observed for venous thromboembolism risk, where the mainland population presented a higher risk (6.5%) than the Azorean population (4.1%). Significant differences in VTE-MGP distribution were found among the Azorean geographic groups ( < 0.05), with the Eastern group showing the highest VTE risk. Conversely, for the risk AT-MGP, the Central group shows the highest risk (12.9%). Taken together, the data suggest a risk of developing a cardiovascular disease consistent with the European population. However, the Azorean-specific genetic background and socio-cultural habits (dietary and sedentary) may explain the differences observed, validating the need to assess the allelic and genotypic frequencies between different populations, especially in small geographical locations, such as the Azores archipelago. In conclusion, these findings can improve the prevention, diagnosis, and treatment of high-risk individuals, and contribute to reducing the lifelong burden of cardiovascular diseases in the Azorean population.
通过全基因组关联研究（GWAS），已经广泛研究了与心血管疾病发生风险相关的特定变异的频率。人群之间的差异可能由多种因素的相互作用引起，如环境和遗传背景。在这里，我们研究了亚速尔群岛和葡萄牙大陆人群中涉及动脉粥样硬化（AT）和静脉血栓栓塞（VTE）风险的19个单核苷酸多态性（SNP），并将它们的频率与其他欧洲、亚洲和非洲人群进行了比较。结果显示，尽管亚速尔群岛和大陆人群之间没有差异，但与欧洲人群相比，、、和基因中的8个SNP显示出显著的统计学差异（χ²，P < 0.05）。多位点遗传图谱（MGP）分析表明，7.4%的大陆人和11.2%的亚速尔群岛人有患动脉粥样硬化的高风险。对于静脉血栓栓塞风险，观察到相反的趋势，大陆人群的风险（6.5%）高于亚速尔群岛人群（4.1%）。在亚速尔群岛的地理组之间发现了VTE-MGP分布的显著差异（P < 0.05），东部组显示出最高的VTE风险。相反，对于AT-MGP风险，中部组显示出最高风险（12.9%）。综上所述，数据表明患心血管疾病的风险与欧洲人群一致。然而，亚速尔群岛特定的遗传背景和社会文化习惯（饮食和久坐不动）可能解释了观察到的差异，这证实了评估不同人群之间等位基因和基因型频率的必要性，特别是在像亚速尔群岛这样的小地理位置。总之，这些发现可以改善高危个体的预防、诊断和治疗，并有助于减轻亚速尔群岛人群心血管疾病的终身负担。
