Genetic Variations in Inflammatory Mediators Influence Lung Disease Progression in Cystic Fibrosis

被引：37

作者：

Corvol, Harriet ^{[1
,2
,3
]}

Boelle, Pierre-Yves ^{[3
,4
,5
]}

Brouard, Jacques ^{[1
,2
,6
]}

Knauer, Nicola ^{[1
,2
,7
]}

Chadelat, Katarina ^{[1
,2
,3
]}

Henrion-Caude, Alexandra ^{[1
,2
,3
]}

Flamant, Cyril ^{[1
,2
,3
]}

Muselet-Charlier, Celine ^{[1
,2
,3
]}

Boule, Michele ^{[1
,2
,3
]}

Fauroux, Brigitte ^{[1
,2
,3
]}

Vallet, Christelle ^{[1
,2
,3
]}

Feingold, Josue ^{[3
,8
]}

Ratjen, Felix ^{[7
]}

Grasemann, Hartmut ^{[7
]}

Clement, Annick ^{[1
,2
,3
]}

机构：

[1] Hop Trousseau, AP HP, Pediat Pulm Dept, F-75012 Paris, France

[2] INSERM, UMR S U893, Paris, France

[3] Univ Paris 06, Paris, France

[4] Hop St Antoine, AP HP, Dept Biostat, F-75571 Paris, France

[5] INSERM, UMR S U707, Paris, France

[6] Georges Clemenceau Hosp, Dept Pediat, Caen, France

[7] Univ Duisburg Essen, Childrens Hosp, Essen, Germany

[8] Hop Trousseau, AP HP, Dept Genet, F-75012 Paris, France

来源：

PEDIATRIC PULMONOLOGY | 2008年 / 43卷 / 12期

关键词：

cystic fibrosis; cytokines; lung function; modifier gene; transforming growth factor beta 1;

D O I：

10.1002/ppul.20935

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The clinical course of cystic fibrosis (CF) varies considerably among patients carrying the same CF-causing gene mutation. Additional genetic modifiers may contribute to this variability As airway inflammation is a key component of CF pathophysiology, we investigated whether major cytokine variants represent such modifiers in young CIF patients. We tested 13 polymorphisms in 8 genes that play a key role in the inflammatory response: tumor necrosis factor, lymphotoxin alpha, interleukin (IL) 1B, IL1 receptor antagonist, IL6, IL8, IL10 and transforming growth factor beta 1 (TGFB1), for an association with lung disease progression and nutritional status in 329 CF patients. Variants in the TGFB1 gene at position +869T/C demonstrated a significant association with lung function decline. A less pronounced rate of decline in forced expiratory volume in 1 sec (FEV1) and forced vital capacity (FVC) were observed in patients heterozygous for TGFB1 +869 (+869CT), when compared to patients carrying either TGFB1 +869TT or +869CC genotypes. These findings support the concept that TGFB1 gene variants appear to be important genetic modifiers of lung disease progression in CF Pediatr Pulmonol. 2008; 43:1224-1232. (c) 2008 Wiley-Liss, Inc.

引用

页码：1224 / 1232

页数：9

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