Crohn's disease: Concordance for site and clinical type in affected family members--potential hereditary influences

Bayless, TM; Tokayer, AZ; Polito, JM; Quaskey, Shirley A.; Mellits, E. David; Harris, Mark

doi:10.1053/gast.1996.v111.pm8780559

Cited by 195 publications

(118 citation statements)

References 4 publications

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“…(33), realizado en el área de Caláis, parece dar mayor importancia a los factores ambientales, al descubrir una alta incidencia de parejas sexuales con EIIC, no diagnosticados antes de la convivencia. No obstante, ninguno de estos datos de familias, han aportado datos concluyentes de que los patrones familiares sean determinados por factores genéticos en lugar de ambientales (15,22,(34)(35)(36)(37). Fenotipo (Extensión).…”

Section: Discussionunclassified

Epidemiología de la enfermedad inflamatoria intestinal crónica en cinco áreas de Asturias: España

Gismera

Menéndez

Sánchez‐Fernández³

et al. 2003

An. Med. Interna (Madrid)

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RESUMENObjetivo: La epidemiología de la enfermedad inflamatoria intestinal crónica (EIIC) es una poderosa herramienta de investigación que contribuye a la evaluación de los factores medioambientales que influyen en su etiología. El objetivo de este estudio es conocer distintos aspectos epidemiológicos de la EIIC en nuestro medio.Pacientes y métodos: Estudio epidemiológico descriptivo, poblacional, multicentrico, retrospectivo entre 1954 y 1993 y prospectivo entre 1994 y 1997. Se incluyen 1018 enfermos mayores de 14 años, diagnosticados de EIIC en 5 áreas del Principado de Asturias (España), con un censo de 461.965 habitantes.Resultados: Del total de 1018 identificados [565 CU (55,5%) (incluyendo proctitis), 415 EC (40,8%) y 38 CI (3,7%)], 482 son mujeres (47,2%) y 536 varones (52,8%), con una relación V/M de 1,11. La edad media al diagnóstico es de 39,49 ± 1,08 (IC; 95%: 38,41 -40,57), [CU: 43,95 ± 1,47; EC: 33,53 ± 1,51; CI: 38,26 ± 5,14]. p = 0,000. La edad media de inicio de síntomas previo al diagnóstico es 37,66 ± 0,97 (CU: 42,84 ± 1,34; EC: 30,68 ± 1,40; CI: 36,74 ± 4,86 (p = 0,000). El diagnós-tico de CU ha sido posible con criterios clínicos en el 97,34% (p = ns), criterios endoscópicos en el 96,63% (p = 0,000) y criterios histológicos en el 90,26% (p = 0,000). En la EC: criterios radiológicos 83,61% (p = 0,000). El nivel cultural es superior en la EC: 57,57 (p = 0,0005). Asociación familiar del 8,4%. Extensión: en la CU: proctitis 13,6%, 26,9% colitis distal, 26% colitis izquierda, 6% colitis extensa y el 20% pancolitis; En la EC el 30,3% tienen afectación de íleon terminal, el 16,7% colon, el 41,3% colon e intestino, el 11,7% son intestinales extensas y el 3,7% tienen afectación gastro-duodenal; En la CI destaca un 39,5% de afectación discontinua. La media de cirugías necesarias para el control de la enfermedad es de 0,44 ± 6,11, (26,62% de los enfermos). CU: 0,12 ± 3,33 (9,91%); EC: 0,91 ± 12,9 (50,36%), p = 0,000. Tasa de Mortalidad de 47,15 /1000 habitantes (CU: T = 61,94; EC: T = 26,50; CI: T= 0,004) p = 0,046. RMS: 0,467 (CU: 6,14; EC: 2,63; CI: 100).Conclusiones: Este estudio que abarca una importante población de enfermos, pretende aportar nuestros resultados epidemiológicos a la Enfermedad Inflamatoria Intestinal Crónica. Nuestros resultados no difieren substancialmente de los de otras publicaciones. La colitis ulcerosa y la enfermedad de Crohn así como el sexo, se distribuyen uniformemente. La elevada asociación familiar entre estas enfermedades sugiere un origen genético de la EIIC. La enfermedad de Crohn se expresa con mayor morbilidad reflejada en los requerimientos quirúrgicos, pero sin embargo con menor mortalidad que en la colitis ulcerosa.PALABRAS CLAVE: Enfermedad Inflamatoria Intestinal Crónica. Colitis ulcerosa. Enfermedad de Crohn. Colitis indeterminada. Epidemiología. ABSTRACT Aims: The epidemiologic analysis inflammatory bowel disease (IBD) is a powerful research tool to assess the contribution of environmental factors to its etiology. IBD has been reported to have varying freque...

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Section: Discussionunclassified

Epidemiología de la enfermedad inflamatoria intestinal crónica en cinco áreas de Asturias: España

Gismera

Menéndez

Sánchez‐Fernández³

et al. 2003

An. Med. Interna (Madrid)

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“…Polito et al (18) also showed that stratification for age at diagnosis of CD is associated to age-specific phenotypes. Concordance rates of 56-86% for location and 49-82% for behavior were reported in parent-child pairs and sibling pairs (14,17). There is no consistent difference in location and behavior of CD between familial and non-familial (sporadic) disease.…”

Section: Introductionmentioning

confidence: 92%

“…CD patients have an affected first-degree relative with CD in 2.2-16.2% of cases and with IBD in 5.2-22.5% of cases (13). The concordance rate of affected siblings was reported to be as high as 60-80% (14).…”

Section: Introductionmentioning

confidence: 99%

“…Disease phenotypes that may be genetically determined have been suggested, including: age at onset, disease site, behavior, presence of extraintestinal manifestation and need for surgery (11,(14)(15)(16). Age of onset was found to be significantly less in familial compared to sporadic disease (17,18), but this was not replicated in all studies (19).…”

Section: Introductionmentioning

confidence: 99%

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Clinical presentation of Crohn's disease: association between familial disease, smoking, disease phenotype, extraintestinal manifestations and need for surgery

Lakatos¹,

Szalay²,

Tulassay³

et al. 2005

Z Gastroenterol

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Background/Aims: Recent molecular data suggest that genetic factors may underlie the disease heterogeneity observed in Crohn's disease (CD). It was also suggested that familial inflammatory bowel disease (IBD) is a homogenous subgroup, phenotypically different from sporadic disease. Our aim was to determine the clinical presentation in a large CD population. Methodology: 564 CD patients (m/f: 278/286, age: 37.4 (SD 12.7) yrs, duration: 8.4 (7.1) yrs) were included. Disease phenotype was determined according to Vienna classification. Familial disease, extraintestinal manifestations (EIM), need for surgery and smoking habits were also analyzed. Results: Familial IBD was present in 73 (12.9%) patients. Age at onset and presence of EIMs was associated with familial disease. Penetrating (44.6% vs. <10yrs: 29.1%, P<0.0001) and ileocolonic disease (54.4% vs. 42.8%, P=0.03) were more common in patients with a disease duration of ≥10yrs. In a logistic regression model female gender, colonic/ileocolonic location, smoking and familial IBD were independent risk factors for EIMs, while ileal and non-inflammatory disease increased the risk for resections. Smoking was also associated with frequent relapses. Conclusions: Familial IBD was associated with the presence of EIMs, while ileal involvement and noninflammatory behavior independently increased the risk for surgery. Since penetrating and extensive disease was more frequent in patients with longer disease duration our data support a possible change in location and behavior during the course of disease.

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“…7 Epidemiological evidence indicates that genetic factors determine the clinical phenotype in both CD and UC, with high concordance for age of debut, location and behavior of disease in multiple affected families. 8,9 The precise clinical phenotype of a patient depends most probably on the effect of a limited number of genes. Although the etiology of CD is unknown, a breakdown of tolerance to luminal bacteria in the digestive tract of genetically susceptible hosts has been proposed.…”

Section: Introductionmentioning

confidence: 99%

Association of the organic cation transporter OCTN genes with Crohn's disease in the Spanish population

et al. 2005

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The SLC22A4 and SLC22A5 genes within the IBD5 risk locus encode the organic cation transporters OCTN1 and OCTN2. Two variants, 1672C4T in SLC22A4 and À207G4C in SLC22A5, were shown to alter these genes' functions and were identified as genetic susceptibility factors for Crohn's disease (CD). We pursued to check both putative etiologic variants in an independent population through a case-control study with 309 Spanish CD patients and 408 ethnically matched healthy subjects. Both polymorphisms were found in partial linkage disequilibrium (D 0 ¼ 0.86). The separate analysis of each OCTN variant evidenced no association. However, when the simultaneous presence of mutant variants in both genes was analyzed, an effect on CD susceptibility was observed (P ¼ 0.026, odds ratio (OR) (95% confidence interval (CI)) ¼ 1.59 (1.03 -2.45)). The previously described predisposition conferred by the 5q31-risk haplotype increased in the absence of the etiologic 1672T and À207C alleles (P ¼ 0.0006, OR (95% CI) ¼ 10.14 (1.97-98.04)). Moreover, the risk contributed by these polymorphisms was higher in the IBD5 wild-type population (P ¼ 0.003, OR (95% CI) ¼ 2.65 (1.32-5.35)), arguing against the exclusive etiological role of the OCTN variants. The haplotype pattern inferred led to the consideration of these variants as susceptibility markers only in a defined genetic context. Our data support the interpretation of the 1672C4T SLC22A4 and À207G4C SLC22A5 polymorphisms as genetic markers of susceptibility/protection haplotypes.

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Crohn's disease: Concordance for site and clinical type in affected family members--potential hereditary influences

Cited by 195 publications

References 4 publications

Epidemiología de la enfermedad inflamatoria intestinal crónica en cinco áreas de Asturias: España

Epidemiología de la enfermedad inflamatoria intestinal crónica en cinco áreas de Asturias: España

Clinical presentation of Crohn's disease: association between familial disease, smoking, disease phenotype, extraintestinal manifestations and need for surgery

Association of the organic cation transporter OCTN genes with Crohn's disease in the Spanish population

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