Promoter Analysis and Aberrant Expression of the <i>MUC5B</i> Gene in Diffuse Panbronchiolitis

Kamio, Koichiro; Matsushita, Ikumi; Hijikata, Makoto; Kobashi, Yoichiro; Tanaka, Goh; Nakata, Koh; Ishida, Takafumi; Tokunaga, Katsushi; Terada, Yoshio; Homma, Sakae; Nakata, Kohei; Azuma, Arata; Kudoh, Shoji; Keicho, Naoto

doi:10.1164/rccm.200409-1168oc

Cited by 66 publications

(60 citation statements)

References 40 publications

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“…Other variants in the promoter of MUC5B have been reported to be associated with panbronchiolitis in a Japanese population, providing support for this further investigation of MUC5B among Asian populations. 17 Future studies will determine exactly which variants are driving the observed associations and their potential role in the mechanism of disease. Th ese results suggest that these populations and other racial/ethnic populations will need to be studied individually to verify these fi ndings and identify the full range of genetic components that account for IPF risk.…”

Section: Discussionmentioning

confidence: 99%

The MUC5B Promoter Polymorphism Is Associated With Idiopathic Pulmonary Fibrosis in a Mexican Cohort but Is Rare Among Asian Ancestries

Peljto¹,

Selman

Kim

et al. 2015

Chest

109

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BACKGROUND:Polymorphisms in the MUC5B promoter, TOLLIP , and nine additional genetic loci have been associated with idiopathic pulmonary fi brosis (IPF) within non-Hispanic white populations. It is unknown whether these variants account for risk of IPF in other racial/ethnic populations. We conducted a candidate single nucleotide polymorphism (SNP) association study in cohorts of Mexican and Korean patients with IPF.

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Section: Discussionmentioning

confidence: 99%

The MUC5B Promoter Polymorphism Is Associated With Idiopathic Pulmonary Fibrosis in a Mexican Cohort but Is Rare Among Asian Ancestries

Peljto¹,

Selman

Kim

et al. 2015

Chest

109

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“…Preliminary data show a difference in LD between pairs of these markers in the cases and controls, and ongoing work includes searching for, and validating, suitably informative MUC5AC SNPs to test in this cohort, as well as study of the longitudinal '1946' cohort (Rousseau et al 2006). The observation of 10/70 chromosomes with an identical haplotype extending from MUC2 to MUC5B, and evidence of functional variation in the MUC5B promoter (Kamio et al 2005), means that it will also be worth testing MUC5B in these and other asthma cohorts.…”

Section: Discussionmentioning

confidence: 99%

Allelic Association and Recombination Hotspots in the Mucin Gene (MUC) Complex on Chromosome 11p15.5

Rousseau

Byrne

Griesinger

et al. 2007

Annals of Human Genetics

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SummaryA family of four highly polymorphic genes encoding secreted gel forming mucins is located in the middle of a recombination rich region of the short arm of chromosome 11 (11p15.5; tel MUC6-MUC2-MUC5AC-MUC5B cen; approx. 400 kb). These genes are of interest as risk factors for inflammatory diseases of the epithelia, and we have for example reported association of a VNTR polymorphism of the major mucin domain of MUC2 with asthma, despite the fact that MUC2 is not a major respiratory mucin. To understand the significance of this and other mucin gene associations it is important to describe the patterns of linkage disequilibrium (LD) across this chromosomal region, which is still incomplete on HapMap and the UCSC Golden Path sequence. Our previous studies on the 40 core CEPH families provided direct evidence for several recombination events within the immediate region of the gene complex. This study examines these recombination events in more detail, and also the patterns of LD across the gene complex. We refine the location of the breakpoints, and the combined data suggest two probable recombination hotspots. Three breakpoints are located between MUC6 and MUC2: there is no association between MUC6 and MUC2, and the data collected here, combined with that publicly available, maps a hotspot to a region of 4 kb. The other recombinants map between MUC2 and intron 8 of MUC5B. Relatively strong LD is detected between MUC2 and MUC5AC, and although 10/70 of the chromosomes tested shared a common haplotype, which extends from MUC2 to MUC5B, statistically significant association was not detected between MUC2 and the markers tested in MUC5B. We discuss the possibility that the previously reported association between MUC2 and asthma is most likely attributable to association with functional variation in MUC5AC, which encodes one of the two major mucins expressed in both healthy and diseased airways.

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“…The inflammatory infiltrate is composed of neutrophils, CD8 T-lymphocytes and foamy macrophages. The airway epithelium may be damaged and shows extensive goblet cell hyperplasia with secretion of MUC5AC and MUC5B mucins [174,175]. Genetic predisposition related to specific HLA genotypes or polymorphisms in MUC5B mucin have been suggested [176].…”

Section: Diffuse Panbronchiolitismentioning

confidence: 99%

Small airways diseases, excluding asthma and COPD: an overview

Burgel¹,

Bergeron²,

Blic³

et al. 2013

Eur Respir Rev

105

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This review is the summary of a workshop on small airways disease, which took place in Porquerolles, France in November 2011. The purpose of this workshop was to review the evidence on small airways (bronchiolar) involvement under various pathophysiological circumstances, excluding asthma and chronic obstructive pulmonary disease. Histopathological patterns associated with small airways disease were reviewed, including cellular and obliterative bronchiolitis. Many pathophysiological conditions have been associated with small airways disease including airway infections, connective tissue diseases and inflammatory bowel diseases, bone marrow and lung transplantation, common variable immunodeficiency disorders, diffuse panbronchiolitis, and diseases related to environmental exposures to pollutants, allergens and drugs. Pathogenesis, clinical presentation, a computed tomography scan and pulmonary function test findings are reviewed, and therapeutic options are described with the objective of providing an integrative approach to these disorders.

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Promoter Analysis and Aberrant Expression of the MUC5B Gene in Diffuse Panbronchiolitis

Cited by 66 publications

References 40 publications

The MUC5B Promoter Polymorphism Is Associated With Idiopathic Pulmonary Fibrosis in a Mexican Cohort but Is Rare Among Asian Ancestries

The MUC5B Promoter Polymorphism Is Associated With Idiopathic Pulmonary Fibrosis in a Mexican Cohort but Is Rare Among Asian Ancestries

Allelic Association and Recombination Hotspots in the Mucin Gene (MUC) Complex on Chromosome 11p15.5

Small airways diseases, excluding asthma and COPD: an overview

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