International Journal of COPD (Jul 2022)
SMAD4 rs10502913 is Significantly Associated with Chronic Obstructive Pulmonary Disease in a Chinese Han Population: A Case-Control Study
Abstract
Zhifei Hou,1,2 Zhihui Yuan,3 Hao Wang,4 Kang Chang,5 Yong Gao1 1Department of Pulmonary and Critical Care Medicine, Sinopharm Tongmei General Hospital, Datong, People’s Republic of China; 2China-Japan Friendship Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People’s Republic of China; 3Department of Emergency, Chinese PLA General Hospital -Fourth Medical Center, Beijing, People’s Republic of China; 4School of Population Medicine and Public Health, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People’s Republic of China; 5China-Japan Friendship Hospital, National Clinical Research Center for Respiratory Diseases, Clinical Center for Pulmonary Infections, Capital Medical University, Beijing, People’s Republic of ChinaCorrespondence: Yong Gao; Zhifei Hou, Email [email protected]; [email protected]: COPD is a respiratory disease caused by a combination of genetic and environmental factors. Polymorphism, as a genetic factor, can affect the susceptibility of the disease of COPD. In this study, we assessed the relationship between the polymorphisms of three genes and COPD risk in a Chinese Han population.Patients and Methods: A total of 376 patients diagnosed with COPD and 284 control subjects were enrolled in this study. Multivariate logistic regression analysis was used to analyze the association between three polymorphisms (SMAD4 rs10502913, IL-4 rs2070874, HSPA1L rs2227956) and COPD susceptibility.Results: The SMAD4 rs10502913 GG and AG genotype significantly increased COPD risk (adjusted OR = 2.235, 95% CI 1.198– 4.104; adjusted OR = 2.218, 95% CI 1.204– 4.151, respectively) compared with the AA genotype. In the stratification analyses, the GG genotype significantly increased the risk of COPD in subjects aged 60 and over (adjusted OR = 2.519, 95% CI 1.266– 5.015) and with a smoking history of less than 30 years (p=0.009; adjusted OR = 3.751; 95% CI 1.398– 10.062). This increased risk was more pronounced in the group of GOLD I and GOLD II (adjusted OR = 3.628, 95% CI 1.022– 12.885; adjusted OR = 2.394, 95% CI 1.004– 5.710, respectively). In addition, AG genotype was associated with an increased COPD risk in subjects aged 60 and over (adjusted OR = 2.599, 95% CI 1.304– 5.176) and in smokers (p=0.021; adjusted OR = 2.269; 95% CI 1.132– 4.548). This increased risk was more obvious in the group of GOLD III COPD (p=0.047; adjusted OR = 2.532; 95% CI 1.012– 6.336).Conclusion: Our present study indicated that the genotype GG and AG of SMAD4 rs10502913 are associated with an increased risk of COPD in a Chinese Han population. Further validation studies with large-scale populations are needed to confirm our findings.Keywords: COPD, chronic obstructive pulmonary disease, polymorphism, SMAD4 rs10502913, similar to mother against decapentaplegic 4, risk
