Anticipation in familial Crohn's disease

被引:54
作者
Grandbastien, B
Peeters, M
Franchimont, D
Gower-Rousseau, C
Speckel, D
Rutgeerts, P
Belaïche, J
Cortot, A
Vlietinck, R
Colombel, JF [1 ]
机构
[1] Katholieke Univ Leuven, Dept Human Genet, Louvain, Belgium
[2] Katholieke Univ Leuven, Dept Gastroenterol, Louvain, Belgium
[3] CHU Liege, Serv Hepatogastroenterol, Liege, Belgium
[4] Katholieke Univ Leuven, Dept Human Genet, Louvain, Belgium
关键词
Crohn's disease; familial; genetic anticipation;
D O I
10.1136/gut.42.2.170
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Background-Offspring with a family history of Crohn's disease have an earlier age of onset than their parents. This might be due to genetic anticipation, characterised by earlier and/or more severe disease in subsequent generations. Aims-To investigate the possibility of genetic anticipation in affected parent-child pairs with Crohn's disease from France and Belgium. Patients and methods-In a cohort of 160 multiply affected families with Crohn's disease, 57 parent-first affected child pairs were detected. Clinical characteristics (age at diagnosis, disease extent, and type) of both parents and children were registered and compared. Results-Children were younger than their parents at diagnosis in 48/57 (84%) pairs. The median age at diagnosis was 16 years younger in children than in parents (P<0.0001). However, the difference was related to the age at diagnosis in the parents and was not present in 12 parent-child pairs with an early age at diagnosis for the parents. In most cases, disease extent and type were not considered more severe in children than in parents. Parental sex affected neither age at diagnosis nor extent and type of disease in children. Conclusion-Patients in the second affected generation acquire their disease at an earlier time in life in some but not all familial cases of Crohn's disease. Several explanations including genetic anticipation and environmental factors might explain this phenomenon.
引用
收藏
页码:170 / 174
页数:5
相关论文
共 39 条
  • [1] Surgical recurrence of perforating and nonperforating Crohn's disease - A study of 101 surgically treated patients
    Aeberhard, P
    Berchtold, W
    Riedtmann, HJ
    Stadelmann, G
    [J]. DISEASES OF THE COLON & RECTUM, 1996, 39 (01) : 80 - 87
  • [2] IMPRINTING AND ANTICIPATION - ARE THEY RELEVANT TO GENETIC-STUDIES OF SCHIZOPHRENIA
    ASHERSON, P
    WALSH, C
    WILLIAMS, J
    SARGEANT, M
    TAYLOR, C
    CLEMENTS, A
    GILL, M
    OWEN, M
    MCGUFFIN, P
    [J]. BRITISH JOURNAL OF PSYCHIATRY, 1994, 164 : 619 - 624
  • [3] ASHERSON P, 1994, AM J HUM GENET, V54, P386
  • [4] Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    Campuzano, V
    Montermini, L
    Molto, MD
    Pianese, L
    Cossee, M
    Cavalcanti, F
    Monros, E
    Rodius, F
    Duclos, F
    Monticelli, A
    Zara, F
    Canizares, J
    Koutnikova, H
    Bidichandani, SI
    Gellera, C
    Brice, A
    Trouillas, P
    DeMichele, G
    Filla, A
    DeFrutos, R
    Palau, F
    Patel, PI
    DiDonato, S
    Mandel, JL
    Cocozza, S
    Koenig, M
    Pandolfo, M
    [J]. SCIENCE, 1996, 271 (5254) : 1423 - 1427
  • [5] GENETIC ANTICIPATION - EXPANDING TANDEM REPEATS
    CARPENTER, NJ
    [J]. NEUROLOGIC CLINICS, 1994, 12 (04) : 683 - 697
  • [6] Cho JH, 1997, GASTROENTEROLOGY, V112, pA948
  • [7] Clinical characteristics of Crohn's disease in 72 families
    Colombel, JF
    Grandbastien, B
    GowerRousseau, C
    Plegat, S
    Evrard, JP
    Dupas, JL
    Gendre, JP
    Modigliani, R
    Belaiche, J
    Hostein, J
    Hugot, JP
    VanKruiningen, H
    Cortot, A
    [J]. GASTROENTEROLOGY, 1996, 111 (03) : 604 - 607
  • [8] Clinical and genetic abnormalities in patients with Friedreich's ataxia
    Durr, A
    Cossee, M
    Agid, Y
    Campuzano, V
    Mignard, C
    Penet, C
    Mandel, JL
    Brice, A
    Koenig, M
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1996, 335 (16) : 1169 - 1175
  • [9] FARMER RG, 1975, GASTROENTEROLOGY, V68, P627
  • [10] FRANCOIS Y, 1990, LYON CHIR, V86, P386