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Increased cardiovascular mortality in females with the a/a genotype of the SNPs rs1478604 and rs2228262 of thrombospondin-1.
BMC Medical Genetics ( IF 2.023 ) Pub Date : 2020-09-11 , DOI: 10.1186/s12881-020-01118-7 Urban Alehagen 1 , Levar Shamoun 2, 3 , Dick Wågsäter 3
BMC Medical Genetics ( IF 2.023 ) Pub Date : 2020-09-11 , DOI: 10.1186/s12881-020-01118-7 Urban Alehagen 1 , Levar Shamoun 2, 3 , Dick Wågsäter 3
Affiliation
Cardiovascular diseases are still the major cause of death in the Western world, with different outcomes between the two genders. Efforts to identify those at risk are therefore given priority in the handling of health resources. Thrombospondins (TSP) are extracellular matrix proteins associated with cardiovascular diseases. The aim of this study was to investigate variations in single nucleotide polymorphisms (SNPs) of TSP-1 and plasma expression, and associations with mortality from a gender perspective. A population of 470 community-living persons were invited to participate. The participants were followed for 7.9 years and underwent a clinical examination and blood sampling. SNP analyses of TSP-1 rs1478604 and rs2228262 using allelic discrimination and plasma measurement of TSP-1 using ELISA were performed, During the follow-up period, 135 (28.7%) all-cause and 83 (17.7%) cardiovascular deaths were registered. In the female population, the A/A genotype of rs2228262 and the T/T genotype of rs1478604 exhibited significantly more cardiovascular deaths compared with the A/G and G/G, or the T/C and C/C genotypes amalgamated (rs2228262: 13.7% vs 2.0%; Χ2:5.29; P = 0.02; rs1478604:17.7% vs 4.7%; Χ2:9.50; P = 0.002). Applied in a risk evaluation, the A/A, or T/T genotypes exhibited an increased risk of cardiovascular mortality (rs2228262: HR: 7.1; 95%CI 1.11–45.8; P = 0.04; rs1478604: HR: 3.18; 95%CI 1.35–7.50; p = 0.008). No differences among the three genotypes could be seen in the male group. In this study the female group having the A/A genotype of rs2228262, or the T/T genotype of rs1478604 of TSP-1 exhibited higher cardiovascular mortality after a follow-up of almost 8 years. No corresponding genotype differences could be found in the male group. Genotype evaluations should be considered as one of the options to identify individuals at risk. However, this study should be regarded as hypothesis-generating, and more research in the field is needed.
中文翻译:
A / A基因型的血小板反应蛋白-1的SNP rs1478604和rs2228262增加了女性的心血管死亡率。
在西方世界,心血管疾病仍然是主要的死亡原因,男女之间的结局不同。因此,在处理卫生资源时,应优先考虑识别高危人群。血小板反应蛋白(TSP)是与心血管疾病有关的细胞外基质蛋白。这项研究的目的是从性别的角度研究TSP-1的单核苷酸多态性(SNP)和血浆表达的变异,以及与死亡率的关系。邀请了470名社区居民参加。对参与者进行了7.9年的随访,并进行了临床检查和血液采样。使用等位基因鉴别对TSP-1 rs1478604和rs2228262进行SNP分析,并使用ELISA对TSP-1进行血浆测量。在随访期内,该结果为135(28。记录了7%的全因和83例(17.7%)的心血管死亡。与A / G和G / G或合并的T / C和C / C基因型相比,女性人群中rs2228262的A / A基因型和rs1478604的T / T基因型表现出明显更多的心血管死亡(rs2228262: 13.7%对2.0%;Χ2:5.29; P = 0.02; rs1478604:17.7%相对4.7%;Χ2:9.50; P = 0.002)。在风险评估中,A / A或T / T基因型表现出心血管死亡的风险增加(rs2228262:HR:7.1; 95%CI 1.11–45.8; P = 0.04; rs1478604:HR:3.18; 95%CI 1.35–7.50; p = 0.008)。在男性组中,三种基因型之间没有差异。在这项研究中,具有rs2228262的A / A基因型或TSP-1的rs1478604的T / T基因型的女性组在进行了将近8年的随访后显示出更高的心血管死亡率。在男性组中没有发现相应的基因型差异。基因型评估应被视为识别风险个体的一种选择。然而,该研究应被认为是假设的产生,并且需要在该领域中进行更多的研究。
更新日期:2020-09-11
中文翻译:
A / A基因型的血小板反应蛋白-1的SNP rs1478604和rs2228262增加了女性的心血管死亡率。
在西方世界,心血管疾病仍然是主要的死亡原因,男女之间的结局不同。因此,在处理卫生资源时,应优先考虑识别高危人群。血小板反应蛋白(TSP)是与心血管疾病有关的细胞外基质蛋白。这项研究的目的是从性别的角度研究TSP-1的单核苷酸多态性(SNP)和血浆表达的变异,以及与死亡率的关系。邀请了470名社区居民参加。对参与者进行了7.9年的随访,并进行了临床检查和血液采样。使用等位基因鉴别对TSP-1 rs1478604和rs2228262进行SNP分析,并使用ELISA对TSP-1进行血浆测量。在随访期内,该结果为135(28。记录了7%的全因和83例(17.7%)的心血管死亡。与A / G和G / G或合并的T / C和C / C基因型相比,女性人群中rs2228262的A / A基因型和rs1478604的T / T基因型表现出明显更多的心血管死亡(rs2228262: 13.7%对2.0%;Χ2:5.29; P = 0.02; rs1478604:17.7%相对4.7%;Χ2:9.50; P = 0.002)。在风险评估中,A / A或T / T基因型表现出心血管死亡的风险增加(rs2228262:HR:7.1; 95%CI 1.11–45.8; P = 0.04; rs1478604:HR:3.18; 95%CI 1.35–7.50; p = 0.008)。在男性组中,三种基因型之间没有差异。在这项研究中,具有rs2228262的A / A基因型或TSP-1的rs1478604的T / T基因型的女性组在进行了将近8年的随访后显示出更高的心血管死亡率。在男性组中没有发现相应的基因型差异。基因型评估应被视为识别风险个体的一种选择。然而,该研究应被认为是假设的产生,并且需要在该领域中进行更多的研究。