The C/C-13910 and G/G-22018 genotypes for adult-type hypolactasia are not associated with inflammatory bowel disease

被引:42
作者
Büning, C
Ockenga, J
Krüger, S
Jurga, J
Baier, P
Dignass, A
Vogel, A
Strassburg, C
Weltrich, R
Genschel, J
Lochs, H
Schmidt, H [1 ]
机构
[1] Humboldt Univ, Dept Gastroenterol Hepatol & Endocrinol, Charite, Charite Campus Mitte,Schumannstr 20-21, DE-10117 Berlin, Germany
[2] Hannover Med Sch, Dept Gastroenterol Hepatol & Endocrinol, D-3000 Hannover, Germany
关键词
adult-type hypolactasia; Crohn disease; inflammatory bowel disease; lactose intolerance; lactose-non-persistence; polymorphism; ulcerative colitis;
D O I
10.1080/00365520310000555a
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Background: Lactose intolerance with adult-onset is due to the inadequate enzymatic activity of lactase-phlorizin hydrolase (LPH). It is frequently seen in patients with Crohn disease, but the mechanism remains to be elucidated. Two DNA genotypes, C/C-13910 and G/G(-22018), located upstream from the LCT locus, the gene encoding for LPH, were recently identified as representing genetic markers for lactose intolerance. We utilized these two DNA genotypes to study their role in inflammatory bowel disease. Methods: We investigated the prevalence of these two DNA variants using specific restriction enzyme digest assays in 166 patients with Crohn disease, in 120 healthy first-degree relatives of Crohn disease patients, in 63 patients with ulcerative colitis and in 187 healthy individuals. Results: The analysis revealed a frequency of 21.4% of the 2 genotypes for adult-type hypolactasia in our studied German cohort of healthy individuals, which is higher than previously reported (15%) based on the hydrogen (H-2) breath test. This might indicate a higher sensitivity of genotyping, but it has to be confirmed in larger cohorts. No significant difference was detectable in the frequency of the C/C-13910 and G/G(-22018) genotypes in patients with Crohn disease (C/C-13910: 21.7%; G/G(-22018): 22.3%) compared to first-degree relatives (C/C-13910: 21.7%; G/G(-22018): 20.8%), patients with ulcerative colitis (C/C-13910: 20.3%; G/G(-22018): 20.3%) and healthy individuals (C/C-13910: 21.4%; G/G(-22018): 21.4%). Conclusion: The C/C-13910 and G/G(-22018) genotype of adult-type hypolactasia is not associated with susceptibility to the pathogenesis of Crohn disease and ulcerative colitis.
引用
收藏
页码:538 / 542
页数:5
相关论文
共 12 条
[1]   The molecular classification of the clinical manifestations of Crohn's disease [J].
Ahmad, T ;
Armuzzi, A ;
Bunce, M ;
Mulcahy-Hawes, K ;
Marshall, SE ;
Orchard, TR ;
Crawshaw, J ;
Large, O ;
De Silva, A ;
Cook, JT ;
Barnardo, M ;
Cullen, S ;
Welsh, KI ;
Jewell, DP .
GASTROENTEROLOGY, 2002, 122 (04) :854-866
[2]  
BERNSTEIN CN, 1994, AM J GASTROENTEROL, V89, P872
[3]   The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease [J].
Cuthbert, AP ;
Fisher, SA ;
Mirza, MM ;
King, K ;
Hampe, J ;
Croucher, PJP ;
Mascheretti, S ;
Sanderson, J ;
Forbes, A ;
Mansfield, J ;
Schreiber, S ;
Lewis, CM ;
Mathew, CG .
GASTROENTEROLOGY, 2002, 122 (04) :867-874
[4]   Identification of a variant associated with adult-type hypolactasia [J].
Enattah, NS ;
Sahi, T ;
Savilahti, E ;
Terwilliger, JD ;
Peltonen, L ;
Järvelä, I .
NATURE GENETICS, 2002, 30 (02) :233-237
[5]  
FLATZ G, 1982, HUM GENET, V62, P152
[6]   A simple classification of Crohn's disease: Report of the Working Party for the world congresses of gastroenterology, Vienna 1998 [J].
Gasche, C ;
Scholmerich, J ;
Brynskov, J ;
D'Haens, G ;
Hanauer, SB ;
Irvine, EJ ;
Jewell, DP ;
Rachmilewitz, D ;
Sachar, DB ;
Sandborn, WJ ;
Sutherland, LR .
INFLAMMATORY BOWEL DISEASES, 2000, 6 (01) :8-15
[7]   Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations [J].
Hampe, J ;
Cuthbert, A ;
Croucher, PJP ;
Mirza, MM ;
Mascheretti, S ;
Fisher, S ;
Frenzel, H ;
King, K ;
Hasselmeyer, A ;
MacPherson, AJS ;
Bridger, S ;
van Deventer, S ;
Forbes, A ;
Nikolaus, S ;
Lennard-Jones, JE ;
Foelsch, UR ;
Krawczak, M ;
Lewis, C ;
Schreiber, S ;
Mathew, CG .
LANCET, 2001, 357 (9272) :1925-1928
[8]  
Mishkin B, 1997, AM J GASTROENTEROL, V92, P1148
[9]  
PARK RHR, 1990, AM J GASTROENTEROL, V85, P708
[10]   [CR-51]EDTA INTESTINAL PERMEABILITY IN CHILDREN WITH COWS MILK INTOLERANCE [J].
SCHRANDER, JJP ;
UNSALANHOOYEN, RWM ;
FORGET, PP ;
JANSEN, J .
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 1990, 10 (02) :189-192