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

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.

Comparison of the lower limit of normal to the fixed ratio method for the diagnosis of airflow obstruction at high altitudes: a large cross-sectional survey of subjects living between 3000–4700 m above sea level

“…In active smokers, living at high altitudes is associated with an accelerated decline in lung function [ 16 ]. Inhabitants living at high altitude on a long-term basis have undergone genetic changes, which affect regulation of breathing [ 8 ]. Genome-wide scans of Tibetans have identified candidate genes involved in adapting to high-altitude hypoxia [ 7 ].…”

“…People at high altitudes have to endure lower partial pressures of O 2 , cold ambient temperatures, lower ambient humidity, and limited access to medical resources. Compared to individuals living in low-altitude areas, high-altitude residents have undergone physiological and/or genetic changes in their respiratory and circulatory systems [ 7 , 8 ]. Owing to the specific characteristics of these populations, using an FR may not be appropriate for people at high altitudes.…”

Analysis of genes and immune cell infiltration related to the diagnosis of ulcerative colitis based on machine learning

“…The research results of J TBjerrum et al showed that, PDZK1IP1 has the ability to distinguish UC from Crohn's colitis [17], but the pathway by which PDZK1IP1 induces UC needs further experiments to determine. SERPINA1 is the main member of the serine protease inhibitor family and is related to the occurrence of various diseases such as anemia and chronic obstructive pulmonary disease [18]. Peishan Qiu et al have found that SERPINA1 is a central gene related to active UC autophagy and is related to active UC autophagy.…”