Abstract
The variation of G>T in the MUC5B promoter (rs35705950) has been associated with idiopathic pulmonary fibrosis (IPF) and familial interstitial pneumonia (FIP) in Caucasians, but no information is available regarding this variant in the Chinese population. We recruited 405 patients with interstitial lung diseases (ILD), including 165 IPF patients and 2043 healthy controls, for genotyping the MUC5B gene in the Chinese population. One hundred three patients with pneumonia and 360 patients with autoimmune diseases (ADs) were recruited as disease controls. Our results indicated that the prevalence of the minor allele (T) of the polymorphism rs35705950 in healthy Chinese subjects was approximately 0.66%, which was lower than that described in the Caucasian population. The frequencies of the T allele were 3.33% and 2.22% in IPF and ILD patients, respectively, and these values were significantly higher than those of healthy controls (P = 0.001, OR = 4.332 for IPF, and P = 0.002, OR = 2.855 for ILD). A stratified analysis showed that this variant in MUC5B associated with the risk for ILD mainly in older male Chinese subjects. No difference was observed between patients with pneumonia, AD patients, and healthy controls.
Highlights
Interstitial lung diseases (ILD) or diffuse interstitial lung diseases (DILD) are a heterogeneous collection of more than 100 different pulmonary disorders that affect the tissue and spaces surrounding the alveoli,cause irreversible architectural distortion and impair gas exchange [1,2]
We found that the frequency of the minor allele of this polymorphism was much lower in the Chinese population than that described in Caucasian populations
We screened for this variant in the promoter region of MUC5B with restriction fragment length polymorphism (RFLP), and a Taqman single-nucleotide polymorphism (SNP) genotyping assay was used to confirm the genotypes of the investigated subjects
Summary
Interstitial lung diseases (ILD) or diffuse interstitial lung diseases (DILD) are a heterogeneous collection of more than 100 different pulmonary disorders that affect the tissue and spaces surrounding the alveoli,cause irreversible architectural distortion and impair gas exchange [1,2]. The most common and aggressive idiopathic interstitial pneumonia is idiopathic pulmonary fibrosis (IPF), which represents a chronic, progressive and typically lethal lung disorder of unknown etiology [3]. The incidence of IPF increases with advancing age. It occurs primarily in middle-aged to older adults and peaks in those over 75 years of age. The published prevalence of IPF ranges from 0.7 per 100,000 in East Asia to 63.0 per 100,000 in the United States [4], and the prevalence is higher in men than in women, this difference between genders was not observed in a population-based investigation from Finland [5]. Some potential risk factors, such as cigarette smoking and other environmental exposures, have been described for IPF [6]. The risk for IPF is likely determined by multiple genetic variants and environmental factors [7]
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