Human Molecular Genetics Laboratory, Rajiv Gandhi Centre for Biotechnology, Thiruvananthapuram, 695 014, Kerala, India.
Mol Biol Rep. 2013 Oct;40(10):5869-74. doi: 10.1007/s11033-013-2693-1. Epub 2013 Sep 25.
Intracranial aneurysm (IA) accounts for 85 % of haemorrhagic stroke and is mainly caused due to weakening of arterial wall. Lysyl oxidase (LOX) is a cuproenzyme involved in cross linking structural proteins collagen and elastin, thus providing structural stability to artery. Using a case-control study design, we tested the hypothesis whether the variants in LOX gene flanking the two LD block, can increase risk of aSAH among South Indian patients, either independently, or by interacting with other risk factors of the disease. SNPs were genotyped by fluorescence-based competitive allele-specific PCR (KASPar) chemistry. We selected 200 radiologically confirmed aneurysmal cases and 235 ethnically and age and gender matched controls from the Dravidian Malayalam speaking population of South India. We observed marked interethnic differences in the genotype distribution of LOX variants when compared to Japanese and African populations. However, there was no significant association with any of the LOX variants with IA. This study also could not observe any significant role of LOX polymorphisms in influencing IA either directly or indirectly through its confounding factors such as hypertension and gender in South Indian population.
颅内动脉瘤 (IA) 占出血性中风的 85%，主要由动脉壁弱化引起。赖氨酰氧化酶 (LOX) 是一种参与交联结构蛋白胶原和弹性蛋白的铜酶，从而为动脉提供结构稳定性。本研究采用病例对照研究设计，测试了 LOX 基因侧翼两个 LD 块中的变体是否可以独立或通过与疾病的其他危险因素相互作用，增加南亚印第安人患 aSAH 的风险的假设。通过基于荧光的竞争性等位基因特异性 PCR (KASPar) 化学方法对 SNP 进行基因分型。我们从南印度德拉威语的马来亚拉姆族人群中选择了 200 名经影像学证实的动脉瘤病例和 235 名种族、年龄和性别匹配的对照。与日本和非洲人群相比，我们观察到 LOX 变体的基因型分布存在明显的种族间差异。然而，与任何 LOX 变体与 IA 之间都没有显著关联。本研究也没有观察到 LOX 多态性在影响南亚印第安人群中 IA 方面的任何显著作用，无论是直接影响还是通过其混杂因素（如高血压和性别）间接影响。
