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β肾上腺素能受体基因多态性与印度北部人群脑出血风险的关联:一项病例对照研究。

Association of genetic polymorphisms at beta-adrenergic receptor with risk of intracerebral hemorrhagic stroke in North Indian population: a case control study.

机构信息

Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.

出版信息

Neurol India. 2014 Mar-Apr;62(2):183-8. doi: 10.4103/0028-3886.132383.

Abstract

BACKGROUND

Stroke is a multifactorial, polygenic disorder, influenced by both environmental and genetic factors.

AIM

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.

MATERIALS AND METHODS

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.

RESULTS

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).

CONCLUSION

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.

摘要

背景

中风是一种多因素、多基因疾病,受环境和遗传因素的影响。

目的

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。

材料和方法

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。

结果

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)。

结论

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。

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