Association of the CLCA1 p.S357N variant with meconium ileus in European patients with cystic fibrosis

H.P.J. van der Doef; M.G. Slieker; D. Staab; B.Z. Alizadeh; M. Seia; C. Colombo; C.K. van der Ent; R.F. Nickel; H. Witt; R.H.J. Houwen

doi:10.1097/MPG.0b013e3181afce6c

Association of the CLCA1 p.S357N variant with meconium ileus in European patients with cystic fibrosis

H.P.J. van der Doef, M.G. Slieker, D. Staab, B.Z. Alizadeh, M. Seia, C. Colombo, C.K. van der Ent, R.F. Nickel, H. Witt, R.H.J. Houwen

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

In Cftr-/- mice that mostly die because of intestinal obstruction, intestinal expression of Clca3 is decreased, whereas upregulation of Clca3 results in amelioration of intestinal disease. The aim of the study was to investigate whether the p.S357N variant in CLCA1, the human orthologue of Clca3, acts as a modifier gene in a cohort of 682 European patients with cystic fibrosis (CF)-99 patients with meconium ileus. The 357SS genotype was significantly overrepresented in both patients with meconium ileus and also with a severe CFTR genotype (P = 0.009) and in p.F508del homozygotes (P = 0.002). This suggests that CLCA1 has similar important functions in CF-related intestinal obstruction in humans as in Cftr-/- mice.

Original language	English
Pages (from-to)	347-349
Number of pages	3
Journal	Journal of Pediatric Gastroenterology and Nutrition
Volume	50
Issue number	3
DOIs	https://doi.org/10.1097/MPG.0b013e3181afce6c
Publication status	Published - Mar 2010

Keywords

Adolescent
Adult
Child
Chloride Channels/genetics
Cystic Fibrosis/complications
Cystic Fibrosis Transmembrane Conductance Regulator/genetics
Europe
Female
Genetic Variation
Genotype
Humans
Ileus/complications
Infant, Newborn
Male
Meconium
Young Adult

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10.1097/MPG.0b013e3181afce6c

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van der Doef, H. P. J., Slieker, M. G., Staab, D., Alizadeh, B. Z., Seia, M., Colombo, C., van der Ent, C. K., Nickel, R. F., Witt, H., & Houwen, R. H. J. (2010). Association of the CLCA1 p.S357N variant with meconium ileus in European patients with cystic fibrosis. Journal of Pediatric Gastroenterology and Nutrition, 50(3), 347-349. https://doi.org/10.1097/MPG.0b013e3181afce6c

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title = "Association of the CLCA1 p.S357N variant with meconium ileus in European patients with cystic fibrosis",

abstract = "In Cftr-/- mice that mostly die because of intestinal obstruction, intestinal expression of Clca3 is decreased, whereas upregulation of Clca3 results in amelioration of intestinal disease. The aim of the study was to investigate whether the p.S357N variant in CLCA1, the human orthologue of Clca3, acts as a modifier gene in a cohort of 682 European patients with cystic fibrosis (CF)-99 patients with meconium ileus. The 357SS genotype was significantly overrepresented in both patients with meconium ileus and also with a severe CFTR genotype (P = 0.009) and in p.F508del homozygotes (P = 0.002). This suggests that CLCA1 has similar important functions in CF-related intestinal obstruction in humans as in Cftr-/- mice.",

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author = "{van der Doef}, H.P.J. and M.G. Slieker and D. Staab and B.Z. Alizadeh and M. Seia and C. Colombo and {van der Ent}, C.K. and R.F. Nickel and H. Witt and R.H.J. Houwen",

year = "2010",

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doi = "10.1097/MPG.0b013e3181afce6c",

language = "English",

volume = "50",

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AU - van der Doef, H.P.J.

AU - Slieker, M.G.

AU - Staab, D.

AU - Alizadeh, B.Z.

AU - Seia, M.

AU - Colombo, C.

AU - van der Ent, C.K.

AU - Nickel, R.F.

AU - Witt, H.

AU - Houwen, R.H.J.

PY - 2010/3

Y1 - 2010/3

N2 - In Cftr-/- mice that mostly die because of intestinal obstruction, intestinal expression of Clca3 is decreased, whereas upregulation of Clca3 results in amelioration of intestinal disease. The aim of the study was to investigate whether the p.S357N variant in CLCA1, the human orthologue of Clca3, acts as a modifier gene in a cohort of 682 European patients with cystic fibrosis (CF)-99 patients with meconium ileus. The 357SS genotype was significantly overrepresented in both patients with meconium ileus and also with a severe CFTR genotype (P = 0.009) and in p.F508del homozygotes (P = 0.002). This suggests that CLCA1 has similar important functions in CF-related intestinal obstruction in humans as in Cftr-/- mice.

AB - In Cftr-/- mice that mostly die because of intestinal obstruction, intestinal expression of Clca3 is decreased, whereas upregulation of Clca3 results in amelioration of intestinal disease. The aim of the study was to investigate whether the p.S357N variant in CLCA1, the human orthologue of Clca3, acts as a modifier gene in a cohort of 682 European patients with cystic fibrosis (CF)-99 patients with meconium ileus. The 357SS genotype was significantly overrepresented in both patients with meconium ileus and also with a severe CFTR genotype (P = 0.009) and in p.F508del homozygotes (P = 0.002). This suggests that CLCA1 has similar important functions in CF-related intestinal obstruction in humans as in Cftr-/- mice.

KW - Adolescent

KW - Adult

KW - Child

KW - Chloride Channels/genetics

KW - Cystic Fibrosis/complications

KW - Cystic Fibrosis Transmembrane Conductance Regulator/genetics

KW - Europe

KW - Female

KW - Genetic Variation

KW - Genotype

KW - Humans

KW - Ileus/complications

KW - Infant, Newborn

KW - Male

KW - Meconium

KW - Young Adult

U2 - 10.1097/MPG.0b013e3181afce6c

DO - 10.1097/MPG.0b013e3181afce6c

M3 - Article

C2 - 20179644

SN - 0277-2116

VL - 50

SP - 347

EP - 349

JO - Journal of Pediatric Gastroenterology and Nutrition

JF - Journal of Pediatric Gastroenterology and Nutrition

IS - 3

ER -

Association of the CLCA1 p.S357N variant with meconium ileus in European patients with cystic fibrosis

Abstract

Keywords

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