scholarly journals HIF1A gene rs10873142 polymorphism is associated with risk of chronic obstructive pulmonary disease in a Chinese Han population: a case–control study

2018 ◽  
Vol 38 (2) ◽  
Author(s):  
Licheng Wang ◽  
Yanliang Tang ◽  
Ye Chen
Keyword(s):  
Case Control Study ◽  
Genetic Model ◽  
Case Control ◽  
Chinese Han Population ◽  
Chronic Obstructive ◽  
Chinese Han ◽  
Obstructive Pulmonary Disease ◽  
Han Population ◽  
Hif1a Gene ◽  
Control Study

Chronic obstructive pulmonary disease (COPD) is a type of obstructive lung disease characterized by long-term poor airflow. Recently, variants in the hypoxia inducible factor 1α (HIF1A) gene were found to be associated with COPD risk. The present study aimed to identify whether rs10873142 polymorphism (an intronic polymorphism) in HIF1A gene was related to COPD in a Chinese population. We genotyped HIF1A gene rs10873142 polymorphism in a case–control study with 235 COPD cases and 548 controls in a Chinese Han population. Odd ratios (ORs) and 95% confidence intervals (CIs) were estimated using the chi-squared (χ2) test, genetic model analysis, and stratification analysis. In the genetic model analysis, we found that the TT genotype (TT compared with CC: OR: 1.63; 95% CI: 1.02–2.60; P=0.042) and T allele (T compared with C: OR: 1.29; 95%CI, 1.02–1.60; P=0.032) showed significant correlation with the risk of COPD. However, in stratification analyses of age, BMI, and forced expiratory volume in 1 s (FEV1)/FEV, we failed to find any association between HIF1A gene rs10873142 polymorphism with COPD risk. The present study supports that HIF1A gene rs10873142 polymorphism may be associated with increased risk of COPD in a Chinese Han population. To the best of our knowledge, this is the first case–control study uncovering that the HIF1A gene rs10873142 polymorphism increases the risk of COPD in a Chinese Han population.

Copy number variation in the carboxylesterase 1 gene and the risk of non-alcoholic fatty liver in a Chinese Han population-a case control study

2020 ◽  
Author(s):  
Bing bing Chen ◽  
Xian-E Peng ◽  
Jianhui Yan ◽  
Hewei Peng ◽  
Xiaoling Cai ◽  
...  
Keyword(s):  
Fatty Liver ◽  
Copy Number ◽  
Case Control Study ◽  
Case Control ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Alcoholic Fatty Liver ◽  
Han Population ◽  
Carboxylesterase 1 ◽  
Control Study

Abstract Background: A recent genome-wide copy number variations (CNVs) scan identified a 16q12.2 deletion that included the carboxylesterase 1 (CES1) gene, which is important in the metabolism of fatty acids and cholesterol. We aimed to investigate whether CES1 CNVs was associated with susceptibility to non-alcoholic fatty liver disease (NAFLD) in a Chinese Han population. Methods: A case-control study was conducted among 303 patients diagnosed with NAFLD and 303 age (± 5) and sex-matched controls from the Affiliated Nanping First Hospital of Fujian Medical University in China. The copy numbers of CES1 were measured using TaqMan quantitative real-time polymerase chain reaction (qPCR) and serum CES1 was measured using enzyme-linked immunosorbent assays. The Chi-squared test and a logistic regression model were used to evaluate the association between CES1 CNVs and NAFLD susceptibility. Results: The distribution of CES1 CNVs showed a higher frequency of CNVs loss (< 2) among patients; however, the difference was not significant (P = 0.05). After controlling for other known or suspected risk factors for NAFLD, CES1 CNVs loss was significantly associated with greater risk of NAFLD (adjusted OR = 2.75, 95% CI: 1.30–5.85, P = 0.01); while CES1 CNVs gain (>2) was not. There was a suggestion of an association between increased CES1 serum protein levels and CNVs losses among cases, although this was not statistically significant (P=0.07). Conclusions: Copy number losses (< 2) of CES1 contribute to susceptibility to NAFLD in the Chinese Han population.

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