Kefi Rym, Hechmi Meriem, Dallali Hamza, Elouej Sahar, Jmel Haifa, Halima Yossra Ben, Nagara Majdi, Chargui Mariem, Fadhel Sihem Ben, Romdhane Safa, Kamoun Ines, Turki Zinet, Abid Abdelmajid, Bahri Sonia, Bahlous Afaf, Gomis Ramon, Baraket Abdelhamid, Grigorescu Florin, Normand Christophe, Jamoussi Henda, Abdelhak Sonia
Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, BP 74, 13, place Pasteur, Tunis 1002, Tunisia; University of Tunis El Manar, 2092 El Manar I Tunis, Tunisia.
Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, BP 74, 13, place Pasteur, Tunis 1002, Tunisia.
Ann Endocrinol (Paris). 2017 Jul;78(3):146-155. doi: 10.1016/j.ando.2017.01.005. Epub 2017 Jun 16.
APOA5 has been linked to metabolic syndrome (MetS) or its traits in several populations. In North Africa, only the Moroccan population was investigated. Our aim is to assess the association between APOA5 gene polymorphisms with the susceptibility to MetS and its components in the Tunisian population.
A total of 594 participants from the Tunisian population were genotyped for two polymorphisms rs3135506 and rs651821 located in APOA5 gene using KASPar technology. Statistical analyses were performed using R software.
The SNP rs651821 increased the risk of MetS under the dominant model (OR=1.91 [1.17-3.12], P=0.008) whereas the variant rs3135506 was not associated with MetS. After stratification of the cohort following the sex, only the variant rs651821 showed a significant association with MetS among the women group. The influence of the geographic origin of the studied population on the genotype distribution of APOA5 variants showed that the variant rs651821 was significantly associated with MetS only for the Northern population. The association analyses of the variants rs651821 and rs3135506 with different quantitative traits of MetS showed a significant association only between the variant rs3135506 and triglycerides levels.
This is the first study reporting the association of APOA5 gene variants with MetS in Tunisia. Our study emphasizes the role of APOA5 variants in the regulation of the triglycerides blood levels. Further studies are needed to confirm the clinical relevance of these associations and to better understand the physiopathology of the MetS.
载脂蛋白A5（APOA5）已在多个人群中与代谢综合征（MetS）或其特征相关联。在北非，仅对摩洛哥人群进行了研究。我们的目的是评估突尼斯人群中APOA5基因多态性与MetS易感性及其组成成分之间的关联。
使用KASPar技术对来自突尼斯人群的594名参与者进行基因分型，检测位于APOA5基因中的两个多态性位点rs3135506和rs651821。使用R软件进行统计分析。
在显性模型下，单核苷酸多态性（SNP）rs651821增加了患MetS的风险（比值比[OR]=1.91[1.17 - 3.12]，P = 0.008），而rs3135506变体与MetS无关。按性别对队列进行分层后，仅rs651821变体在女性组中与MetS存在显著关联。研究人群的地理来源对APOA5变体基因型分布的影响表明，仅rs651821变体在北方人群中与MetS显著相关。rs651821和rs3135506变体与MetS不同定量特征的关联分析显示，仅rs3135506变体与甘油三酯水平之间存在显著关联。
这是第一项报道突尼斯APOA5基因变体与MetS关联的研究。我们的研究强调了APOA5变体在调节血液甘油三酯水平中的作用。需要进一步研究以证实这些关联的临床相关性，并更好地理解MetS的生理病理学。
