Anticipation in familial Crohn's disease
Bruno Grandbastien,Marc Peeters,Denis Franchimont,Corinne Gower-Rousseau,D Speckel,Paul Rutgeerts,J Belaïche,A Cortot,Robert Vlietinck,Jean-Frederic Colombel +9 more
TLDR
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.Abstract:
Background—OVspring 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 aVected parentchild pairs with Crohn’s disease from France and Belgium. Patients and methods—In a cohort of 160 multiply aVected families with Crohn’s disease,57 parent-first aVected 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 diVerence was related to the age at diagnosis in the parents and was not present in 12 parentchild 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 aVected 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. (Gut 1998;42:170‐174)read more
Citations
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Specificities of inflammatory bowel disease in childhood.
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Epidemiology and the natural course of inflammatory bowel disease.
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Influences of age, gender, smoking, and family history on autoimmune thyroid disease phenotype.
N Manji,J. Carr-Smith,Kristien Boelaert,Amit Allahabadia,Mary Armitage,V. K. K. Chatterjee,John H. Lazarus,Shs Pearce,Bijay Vaidya,Stephen C. L. Gough,Jayne A. Franklyn +10 more
TL;DR: Marked associations among age at diagnosis, disease severity, goiter, ophthalmopathy, smoking, and FH provide evidence for interactions between genetic and environmental/endogenous factors; understanding these may allow preventive measures or better tailoring of therapies.
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Age at Cancer Diagnosis Among Persons With AIDS in the United States
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In siblings with similar genetic susceptibility for inflammatory bowel disease, smokers tend to develop Crohn's disease and non-smokers develop ulcerative colitis
TL;DR: Smoking is a strong environmental risk factor for Crohn's disease and increases the likelihood of needing surgery, and so in some cases tobacco consumption acts on IBD genetic predisposition to shift the phenotype from UC towards CD.
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TL;DR: A genome-wide search performed on two consecutive and independent panels of families with multiple affected members, using a non-parametric two-point sibling-pair linkage method, identified a putative CD-susceptibility locus on chromosome 16 which contains candidate genes which may be relevant to the pathogenic mechanism of inflammatory bowel diseases.
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Alexandra Durr,Mireille Cossée,Yves Agid,Victoria Campuzano,Claude Mignard,C. Penet,Jean-Louis Mandel,Alexis Brice,Michel Koenig +8 more
TL;DR: The clinical spectrum of Friedreich's ataxia is broader than previously recognized, and the direct molecular test for the GAA expansion on chromosome 9 is useful for diagnosis, determination of prognosis, and genetic counseling.
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Clinical patterns in Crohn's disease: a statistical study of 615 cases.
TL;DR: Results of a study of 615 consecutive patients with Crohn's disease seen at the Cleveland Clinic from 1966 through 1969 are reported, finding that initial anatomic involvement bears directly on the clinical course and prognosis.