15 Analysis of candidate genes as modifiers of Cystic Fibrosis

Dorfman, Ruslan; Sandford, Andrew J.; Corey, Mary; Lin, Feng; Wang, V.; Yuan, Xiaolian; Huang, Qingyang; Markiewicz, Danuta; Mukerjee, G.; Master, Adam; Taylor, C.; Frangolias, D.; Sun, Limei; Paré, Peter D.; Durie, Peter R.; Lc, Tsui; Zielenski, Julian

doi:10.1016/s1569-1993(06)80016-0

Cited by 2 publications

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“…Moreover, Zielenski's laboratory (11,15) presented results identifying secondary genes, other than Cftr, influencing the clinical severity of CF disease. A number of genes found by Zielinski and colleagues were also associated with CF lung disease in humans (Supplemental Appendix S2).…”

Section: Discussionmentioning

confidence: 99%

Distinct pattern of lung gene expression in theCftr-KO mice developing spontaneous lung disease compared with their littermate controls

Guilbault

Novák

Martin

et al. 2006

Physiological Genomics

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Cystic fibrosis (CF) is caused by a defect in the CF transmembrane conductance regulator (CFTR) protein that functions as a chloride channel. Dysfunction of the CFTR protein results in salty sweat, pancreatic insufficiency, intestinal obstruction, male infertility, and severe pulmonary disease. Most of the morbidity and mortality of CF patients results from pulmonary complications. Differences in susceptibility to bacterial infection and variable degree of CF lung disease among CF patients remain unexplained. Many phenotypic expressions of the disease do not directly correlate with the type of mutation in the Cftr gene. Using a unique CF mouse model that mimics aspects of human CF lung disease, we analyzed the differential gene expression pattern between the normal lungs of wild-type mice (WT) and the affected lungs of CFTR knockout mice (KO). Using microarray analysis followed by quantitation of candidate gene mRNA and protein expression, we identified many interesting genes involved in the development of CF lung disease in mice. These findings point to distinct mechanisms of gene expression regulation between mice with CF and control mice.

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Section: Discussionmentioning

confidence: 99%

Distinct pattern of lung gene expression in theCftr-KO mice developing spontaneous lung disease compared with their littermate controls

Guilbault

Novák

Martin

et al. 2006

Physiological Genomics

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“…Zur Zeit liegen Ergebnisse für 56 genetische Marker in 39 Genen verschiedener funktioneller Kategorien vor.Bei 7 dieser geteste− ten Gene fand sich eine statistisch signifikante Assoziation mit mindestens einer klinischen Variable. Zu diesen Genen gehören TGF−â und Cathepsin B, für die bei der CF auch schon in anderen Studien eine Assoziation mit dem pulmonalen Phänotyp be− schrieben wurde, sowie TNF−â, dem Kalzium−abhängigen Chlo− ridkanal CLCA1, und SLC22A, einem Transporter für organische Ionen, für die erstmalig eine Assoziation mit der CF−Lungener− krankung gefunden wurde[120].Es bleibt abzuwarten, ob in den oben genannten Studien noch weitere, den Verlauf der CF modifizierende Gene identifiziert werden, und ob die jeweiligen Ergebnisse in den Studien mit un− terschiedlichen Einschlusskriterien und Design untereinander reproduzierbar sind.Zusammenfassend zeigen die aufgeführten Studien, dass modifi− zierende Gene für den Verlauf der Lungenerkrankung bei CF eine wichtige Rolle zu spielen scheinen. Bevor einzelne genetische Varianten jedoch eindeutig in ihrer Relevanz eingestuft werden können, bedarf es der Bestätigung der einzelnen Untersuchungs− ergebnisse in größeren, unabhängigen Populationen.…”

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Modifizierende Gene bei der zystischen Fibrose

Knauer¹,

Ratjen²,

Grasemann³

2005

Pneumologie

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Cystic fibrosis is a common autosomal recessive disease that is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CFTR gene encodes a membrane-bound chloride ion channel. CFTR gene mutations cause alterations in fluid and salt secretion of various tissues. The CF phenotype is highly variable even in siblings and twins carrying the same CFTR mutations. The course of CF pulmonary disease is modulated by both environmental and genetic factors independent of CFTR. This review summarises association studies that focused on disease modifier genes in CF. Understanding the molecular and cellular basis of the genotype-phenotype associations will help to better understand the disease and to identify new targets for therapeutic interventions in CF.

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15 Analysis of candidate genes as modifiers of Cystic Fibrosis

Cited by 2 publications

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Distinct pattern of lung gene expression in theCftr-KO mice developing spontaneous lung disease compared with their littermate controls

Distinct pattern of lung gene expression in theCftr-KO mice developing spontaneous lung disease compared with their littermate controls

Modifizierende Gene bei der zystischen Fibrose

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