Suvatha Arati, Sibin M K, Bhat Dhananjaya I, Narasingarao K V L, Vazhayil Vikas, Chetan G K
Department of Human Genetics, National Institute of Mental Health and Neuro Sciences, Bangalore, Karnataka, 560029, India.
Department of Biochemistry, Armed Forces Medical College, Pune, 411040, India.
BMC Med Genet. 2018 Sep 5;19(1):159. doi: 10.1186/s12881-018-0674-x.
The rupture of a brain aneurysm causes bleeding in the subarachnoid space and is known as aneurysmal subarachnoid haemorrhage (aSAH). In our study, we evaluated the association of factor XIII polymorphism and the risk of Aneurysmal subarachnoid haemorrhage (aSAH) in South Indian population.
The study was performed in 200 subjects with aSAH and 205 healthy control subjects. Genotyping of rs5985(c.103G > T (p.Val35Leu)) and rs5982(c.1694C > T (p.Pro564Leu)) polymorphism was performed by Taqman® allelic discrimination assay.
In our study, Val/Leu genotype frequency was higher in control subjects (18%) compared to aSAH patients (9%).The Val/Leu genotype was associated with lower risk of aSAH (OR = 0.48, 95%CI = 0.26-0.88, p = 0.02). When compared with Val allele, Leu allele was significantly associated with lower risk of aSAH (OR = 0.55, 95%CI = 0.32-0.95, p = 0.03). In subtyping, we found a significant association of Leu/Leu genotype with the Basilar top aneurysm (OR = 3.59, 95%CI = 1.11-11.64, p = 0.03). In c.1694C > T (p.Pro565Leu) variant, Pro/Pro Vs Pro/Leu genotype (OR = 2.06, 95%CI = 1.10-3.85, p = 0.02) was significantly associated with higher risk of aSAH. The 564Leu allelic frequency in aSAH patients (36%) was higher when compared with that in healthy controls (30%) in our study. When allele frequency (Pro Vs Leu) was compared, 564Leu allele was found to be significantly associated with higher aSAH risk (OR = 1.36, 95%CI = 1.01-1.83, p = 0.04). (OR = 1.36, 95%CI = 1.01-1.83, p = 0.04). Regarding rs5985 and rs5982, significant association was found in the log-additive model (OR = 0.57, 95%CI = 0.33-0.97, p = 0.034; OR = 1.32, 95%CI = 1.00-1.72, p = 0.043).
These results suggest that 34Leu allele was a protective factor for lower risk of aSAH whereas 564Leu allele was associated with higher risk of aSAH in South Indian population.
脑动脉瘤破裂会导致蛛网膜下腔出血，即动脉瘤性蛛网膜下腔出血（aSAH）。在我们的研究中，我们评估了南印度人群中凝血因子XIII基因多态性与动脉瘤性蛛网膜下腔出血（aSAH）风险之间的关联。
该研究纳入了200例aSAH患者和205例健康对照者。通过Taqman®等位基因鉴别分析对rs5985（c.103G＞T（p.Val35Leu））和rs5982（c.1694C＞T（p.Pro564Leu））基因多态性进行基因分型。
在我们的研究中，对照组中Val/Leu基因型频率（18%）高于aSAH患者（9%）。Val/Leu基因型与较低的aSAH风险相关（OR = 0.48，95%CI = 0.26 - 0.88，p = 0.02）。与Val等位基因相比，Leu等位基因与较低的aSAH风险显著相关（OR = 0.55，95%CI = 0.32 - 0.95，p = 0.03）。在亚型分析中，我们发现Leu/Leu基因型与基底动脉尖部动脉瘤显著相关（OR = 3.59，95%CI = 1.11 - 11.64，p = 0.03）。在c.1694C＞T（p.Pro565Leu）变异中，Pro/Pro与Pro/Leu基因型（OR = 2.06，95%CI = 1.10 - 3.85，p = 0.02）与较高的aSAH风险显著相关。在我们的研究中，aSAH患者中564Leu等位基因频率（36%）高于健康对照组（30%）。当比较等位基因频率（Pro与Leu）时，发现564Leu等位基因与较高的aSAH风险显著相关（OR = 1.36，95%CI = 1.01 - 1.83，p = 0.04）。（OR = 1.36，95%CI = 1.01 - 1.83，p = 0.04）。关于rs5985和rs5982，在对数相加模型中发现显著关联（OR = 0.57，95%CI = 0.33 - 0.97，p = 0.034；OR = 1.32，95%CI = 1.00 - 1.72，p = 0.043）。
这些结果表明，在南印度人群中，34Leu等位基因是降低aSAH风险的保护因素，而564Leu等位基因与较高的aSAH风险相关。
