Influence of SERPINA1 Gene Polymorphisms on Anemia and Chronic Obstructive Pulmonary Disease.

IF 2.1 4区医学 Q3 PERIPHERAL VASCULAR DISEASE Journal of the Renin-Angiotensin-Aldosterone System Pub Date : 2022-10-17 eCollection Date: 2022-01-01 DOI:10.1155/2022/2238320

Thangavelu Sangeetha, Tajuddin Nargis Begum, Balasubramanian Balamuralikrishnan, Meyyazhagan Arun, Kannan R R Rengasamy, Natchiappan Senthilkumar, Shanmugam Velayuthaprabhu, Muthukrishnan Saradhadevi, Palanisamy Sampathkumar, Arumugam Vijaya Anand

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引用次数: 2

Abstract

Background: Anemia is one of the predominant hematological conditions, whereas chronic obstructive pulmonary disease (COPD) is a predominant respiratory disease. These two diseases were found to be interlinked, but the physiological pathways are still unclear.

Aim: The current study has been aimed at analysing the genetic interrelationship between anemia and COPD in accordance with different altitudes. Methodology. The genetic analysis was performed in the SERPINA1 gene of anemia, COPD, and healthy individuals for the analysis of single nucleotide polymorphism at rs28949274 and rs17580 locations. Result and Discussion. The single nucleotide polymorphism at the locations rs28949274 and rs17580 was present in both anemic and COPD patients. The COPD patients were more prone to mutations (63% had rs28949274, and 11% had rs17580 polymorphisms) than the anemic patients (40% had rs28949274, and 1% had rs17580 polymorphisms). On the basis of altitude, high-altitude individuals were found to be more susceptible to both the polymorphisms.

Conclusion: Based on the current findings, we suggest that the SERPINA1 gene has a positive correlation with anemia as well as COPD, and the increase in altitude also influences the diseased conditions in a positive manner.

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SERPINA1基因多态性对贫血和慢性阻塞性肺疾病的影响。

背景:贫血是主要的血液学疾病之一，而慢性阻塞性肺疾病(COPD)是主要的呼吸系统疾病。这两种疾病被发现是相互联系的，但其生理途径尚不清楚。目的:本研究旨在分析不同海拔地区贫血与慢性阻塞性肺病的遗传相互关系。方法。对贫血、COPD和健康个体的SERPINA1基因进行遗传分析，分析rs28949274和rs17580位点的单核苷酸多态性。结果与讨论。rs28949274和rs17580位点的单核苷酸多态性在贫血和COPD患者中均存在。COPD患者比贫血患者更容易发生突变(63%的患者具有rs28949274多态性，11%的患者具有rs17580多态性)(40%的患者具有rs28949274多态性，1%的患者具有rs17580多态性)。在海拔的基础上，高海拔的个体对这两种多态性更敏感。结论:根据目前的研究结果，我们认为SERPINA1基因与贫血和COPD呈正相关，海拔的升高也对病变状况有积极的影响。

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来源期刊

Journal of the Renin-Angiotensin-Aldosterone System 医学-外周血管病

CiteScore

6.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： JRAAS is a peer-reviewed, open access journal, serving as a resource for biomedical professionals, primarily with an active interest in the renin-angiotensin-aldosterone system in humans and other mammals. It publishes original research and reviews on the normal and abnormal function of this system and its pharmacology and therapeutics, mostly in a cardiovascular context but including research in all areas where this system is present, including the brain, lungs and gastro-intestinal tract.