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MUC5B promoter polymorphism in Japanese patients with idiopathic pulmonary fibrosis
Yasushi Horimasu1, Shinichiro Ohshimo, Francesco Bonella
1Department of Molecular and Internal Medicine, Graduate School of Biomedical Science, Hiroshima University, Hiroshima, Japan.
Background And Objective:
A single nucleotide polymorphism (SNP) rs35705950 in the promoter of Mucin 5B (MUC5B) has been reported to be associated with idiopathic pulmonary fibrosis (IPF) mainly in Caucasian populations. This study was conducted to confirm the association between rs35705950 and IPF in a Japanese population.
Methods:
Genomic DNA was extracted from blood samples in 384 Japanese and 137 German subjects, and rs35705950 was detected by commercially available genotyping assay.
Results:
The genotype distributions of rs35705950 in Japanese patients with IPF, nonspecific interstitial pneumonia (NSIP) and healthy subjects (HS) were significantly different from those in the German counterparts (P < 0.001, P < 0.001 and P = 0.010, respectively). The rs35705950 T allele frequencies in patients with IPF, NSIP and HS were 3.4%, 1.7% and 0.8%, respectively in the Japanese, while they were 33.1%, 27.4% and 4.3%, respectively in the German cohort. The T allele frequencies in patients with IPF were significantly higher than those in HS both in the Japanese (P = 0.031) and German (P < 0.001) cohorts.
Conclusions:
The association between rs35705950 and IPF was also present in this Japanese cohort, but was not as strong as the German counterpart. To our knowledge, this is the first study to successfully validate the association between rs35705950 and IPF in a Japanese ethnicity.
Insights
The study confirms a link between the Mucin 5B (MUC5B) gene variant rs35705950 and idiopathic pulmonary fibrosis (IPF) in Japanese individuals. This genetic association, while present, is less pronounced than in German populations.
Area of Science:
- Genetics
- Pulmonology
- Population Health
Background:
- Idiopathic pulmonary fibrosis (IPF) is a progressive lung disease with a complex genetic component.
- A specific single nucleotide polymorphism (SNP), rs35705950, in the Mucin 5B (MUC5B) gene promoter has been associated with IPF, primarily in Caucasian populations.
Purpose of the Study:
- To investigate and confirm the association between the MUC5B gene variant rs35705950 and IPF in a Japanese population.
- To compare the strength of this genetic association in Japanese and German cohorts.
Main Methods:
- Genomic DNA was collected from 384 Japanese and 137 German subjects.
- The rs35705950 SNP was genotyped using a commercially available assay.
Main Results:
- Genotype distributions for rs35705950 differed significantly between Japanese and German cohorts across IPF patients, nonspecific interstitial pneumonia (NSIP) patients, and healthy subjects (HS).
- The T allele frequency of rs35705950 was significantly higher in Japanese IPF patients (3.4%) compared to Japanese HS (0.8%) (P = 0.031).
- The T allele frequency was substantially higher in German IPF patients (33.1%) compared to German HS (4.3%) (P < 0.001).
Conclusions:
- The association between the MUC5B rs35705950 variant and IPF is confirmed in the Japanese population.
- The genetic association of rs35705950 with IPF is weaker in the Japanese cohort compared to the German cohort.
- This study provides the first validation of the rs35705950-IPF association in an East Asian ethnicity.
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