Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Neurol India. 2014 Mar-Apr;62(2):183-8. doi: 10.4103/0028-3886.132383.
Stroke is a multifactorial, polygenic disorder, influenced by both environmental and genetic factors.
The purpose of this study was to determine the association of beta-1 and beta-2 adrenergic receptor (AR) polymorphisms with intracerebral hemorrhagic stroke (ICH) in a North Indian population.
One hundred and six patients with intracerebral hemorrhage (ICH) and 106 age- and sex- matched controls were recruited. Genotyping was performed by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. RFLP results of three samples of each genotype were confirmed by DNA sequencing.
Mean age of cases and controls were 53.47 ± 14 and 52.92 ± 13.4, respectively. Significant association between Ser49Gly polymorphism of beta-1 AR and ICH in patients who had onset of disease at a later stage of life (>50 years) under a dominant model of inheritance (OR, 3.6; 95% 1.4 to 9.7) was observed. Under the dominant model of inheritance, Gln27Glu polymorphism of beta-2 AR was associated with risk of ICH (OR, 3.2; 95% CI, 1.7 to 5.8) and significant association persisted even after adjustment for demographic and other risk factor variables (OR, 2.9; 95% CI, 1.04 to 8; P = 0.04). Age-stratified analysis showed an independent significant association of Gln27Glu polymorphism of beta-2 AR with risk of ICH in patients those had onset of disease at young age (<50 years) under a dominant model of inheritance (OR, 3.5; 95% CI, 1.1 to 11).
The present study provides the first preliminary evidence that Gln27Glu polymorphism of beta-2 AR may contribute modest effect in increase in risk of ICH in North Indian Population. Large prospective studies with large sample size are required to confirm these findings.
中风是一种多因素、多基因疾病,受环境和遗传因素的影响。
本研究旨在确定β-1 和β-2 肾上腺素能受体(AR)多态性与北印度人群颅内出血性中风(ICH)的相关性。
纳入 106 例颅内出血(ICH)患者和 106 例年龄和性别匹配的对照组。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法进行基因分型。每种基因型的三个样本的 RFLP 结果均通过 DNA 测序进行确认。
病例组和对照组的平均年龄分别为 53.47±14 和 52.92±13.4。在显性遗传模式下,β-1 AR 的 Ser49Gly 多态性与发病年龄较大(>50 岁)的患者的 ICH 显著相关(OR,3.6;95%可信区间,1.4 至 9.7)。在显性遗传模式下,β-2 AR 的 Gln27Glu 多态性与 ICH 风险相关(OR,3.2;95%可信区间,1.7 至 5.8),并且即使在调整人口统计学和其他危险因素变量后,这种关联仍然存在(OR,2.9;95%可信区间,1.04 至 8;P=0.04)。年龄分层分析显示,在显性遗传模式下,β-2 AR 的 Gln27Glu 多态性与发病年龄较小(<50 岁)的患者的 ICH 风险独立显著相关(OR,3.5;95%可信区间,1.1 至 11)。
本研究首次提供初步证据表明,β-2 AR 的 Gln27Glu 多态性可能对北印度人群的 ICH 风险增加有适度影响。需要进行大样本量的前瞻性研究来证实这些发现。