Association of APOE, GCPII and MMP9 polymorphisms with common diseases and lipid levels in an older adult/elderly cohort
Association of APOE, GCPII and MMP9 polymorphisms with common diseases and lipid levels in an older adult/elderly cohort
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DOI：
10.1016/j.gene.2013.11.040
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发表时间：
2014-02-10
期刊：
影响因子：
3.5
通讯作者：
Borsatto-Galera, Bianca
中科院分区：
文献类型：
--
作者：
Mazzotti, Diego Robles;Singulane, Cristiane Carvalho;Borsatto-Galera, Bianca
背景和目的：老年人群候选基因多态性的表征是识别年龄相关疾病和病症危险因素的重要工具。我们的目的是对来自巴西马托格罗索州库亚巴市的老年人/老年人队列中的 GCPII 基因的 APOE 多态性（rs429358 和 rs7412）、rs61886492（1561C>T）和 rs202720 以及 MMP9 基因的 rs3918242（-1562C>T）进行基因分型，并表征方法：研究人群由来自巴西库亚巴市的 570 名受试者组成，他们接受了临床访谈并采集血液进行实验室检查和 DNA 提取。采用限制性片段长度多态性聚合酶链反应（RFLP-PCR）、序列特异性引物PCR（SSP-PCR）和TaqMan（R）等位基因判别法进行基因分型。结果：APOE epsilon 2和epsilon 4的频率分别为6.6%和14.8%，GCPII rs61886492 T等位基因、GCPII的频率分别为6.6%和14.8%。 rs202720 C等位基因和MMP9 rs3918242 T等位基因分别为3.0%、26.6%和10.1%。发现 APOE epsilon 2 等位基因与较低的总胆固醇和 LDL 胆固醇之间存在显着相关性。此外，MMP9 rs3918242 T 等位基因与较高的 LDL 胆固醇水平相关，表明脂质代谢改变与心血管疾病之间存在联系。 结论：本研究结果有助于描述研究人群特有的危险因素，并更好地了解影响老年人/老年人的常见疾病和病症的分子生理病理学。 (C) 2013 Elsevier B.V. 保留所有权利。
Background and aims: The characterization of candidate gene polymorphisms in elderly populations is an important tool for the identification of risk factors for age-related diseases and conditions. We aimed to genotype the APOE polymorphisms (rs429358 and rs7412), rs61886492 (1561C>T) and rs202720 of GCPII gene and rs3918242 (-1562C>T) of MMP9 gene in an older-adult/elderly cohort from Cuiaba city, Mato Grosso Brazil as well as to characterize risk factors for morbidities and conditions affecting this cohort.Methods: The studied population consisted of 570 subjects from Cuiaba city, Brazil, who were subjected to clinical interviews and blood collection for laboratory examinations and DNA extraction. Restriction Fragment Length Polymorphism Polymerase Chain Reaction (RFLP-PCR), sequence-specific primer PCR (SSP-PCR) and TaqMan (R) allelic discrimination assay were used for genotyping.Results: The frequencies of APOE epsilon 2 and epsilon 4 were 6.6% and 14.8%, respectively, and the frequencies of GCPII rs61886492 T allele, GCPII rs202720 C allele and MMP9 rs3918242 T allele were, respectively, 3.0%, 26.6% and 10.1%. Significant associations between APOE epsilon 2 allele with lower total cholesterol and LDL-cholesterol were found. In addition, MMP9 rs3918242 T allele was associated with higher LDL-cholesterol levels, suggesting a link between lipid metabolism alteration and cardiovascular disease.Conclusions: The present findings contributed to characterize risk factors specific for the studied population and to better understand the molecular physiopathology of common morbidities and conditions affecting older-adult/elderly people. (C) 2013 Elsevier B.V. All rights reserved.