Diakite Brehima, Hamzi Khalil, Hmimech Wiam, Nadifi Sellama
Faculty of Medicine and Pharmacy 14, Department of Genetics and Molecular Pathology Laboratory (LGPM), Hassan II University, 9154 Casablanca,
J Genet. 2016 Jun;95(2):303-9. doi: 10.1007/s12041-016-0635-0.
Ischaemic stroke is a multifactorial disease. Genetic polymorphisms involved in lipid, inflammatory and thrombotic metabolisms play an important role in the development of ischaemic stroke. The present study aimed to assess the relationship between T1131C APOA5 and SG13S114 ALOX5AP polymorphisms and the risk of ischemic stroke in 175 cases and 201 controls. Genotyping was performed by high resolution melting and polymerase chain reaction restriction fragment length polymorphism methods. In the case of T-1131C APOA5, a modest risk of ischaemic stroke was noticed with CC (OR: 2.86; 95% CI = 1.24-6.58; Pc = 0.039) and C allele (OR: 1.54; 95% CI = 1.01-2.33; Pc = 0.014). For SG13S114 ALOX5AP, a significant association was observed among subjects with TT (OR: 2.57; 95% CI =1.49-4.83; Pc = 0.009) and T allele (OR: 1.59; 95% CI = 1.16-2.19; Pc = 0.008). According to the risk factors of ischaemic stroke, a positive correlation was observed only between SG13S114 variant of ALOX5AP gene and hypertension (Pc = 0.026). Despite lower sample size, T-1131C APOA5 and SG13S114 variants could be considered an independent genetic risk factor of ischaemic stroke in Moroccan population.
缺血性中风是一种多因素疾病。参与脂质、炎症和血栓形成代谢的基因多态性在缺血性中风的发生发展中起重要作用。本研究旨在评估175例病例和201例对照中T1131C APOA5和SG13S114 ALOX5AP基因多态性与缺血性中风风险之间的关系。采用高分辨率熔解曲线分析和聚合酶链反应-限制性片段长度多态性方法进行基因分型。对于T-1131C APOA5,CC基因型(比值比:2.86;95%置信区间=1.24-6.58;校正P值=0.039)和C等位基因(比值比:1.54;95%置信区间=1.01-2.33;校正P值=0.014)存在缺血性中风的适度风险。对于SG13S114 ALOX5AP,TT基因型(比值比:2.57;95%置信区间=1.49-4.83;校正P值=0.009)和T等位基因(比值比:1.59;95%置信区间=1.16-2.19;校正P值=0.008)之间存在显著关联。根据缺血性中风的危险因素,仅观察到ALOX5AP基因的SG13S114变异与高血压之间存在正相关(校正P值=0.026)。尽管样本量较小,但T-1131C APOA5和SG13S114变异可被视为摩洛哥人群缺血性中风的独立遗传危险因素。