Familial Investigation And Study On The Association Between HLA And NOD2/CARD15 Gene Polymorphisms With The Genetic Susceptibility In Patients With Inflammatory Bowel Disease

Familial Investigation in Patients with Inflammatory Bowel Disease and Analysis of Clinical FeaturesBackground: Genetic factors have been implicated in the pathogenesis of inflammatory bowel disease.Family studies show an increased risk among family members of a patient with inflammatory bowel disease,particularly among first degree relatives (brothers and sisters,parents and offsprings );Patients with inflammatory bowel disease who have a family history are on average younger at diagnosis than sporadic cases;Twins studies show a higher degree of concordence rate in monozygonic than in dizygonic twins.Objective: To assess genetic susceptibility to inflammatory bowel disease.Methods: During an interview with the proband ,we obtained family histories on 5 inflammatory bowel disease patients,including 2 Crohn s disease patients and 3 ulcerative colitis patients.A detailed family pedigree was constructed and information of the whereabouts of each relative obtained.A detailed history was obtained from each affected family member.The specificdata recorded were as follows:date of birth, diagnosis as known to each affected family member,ages at onset of disease and at diagnosis,presenting symptoms,surgical treatment if any, and whether the members had any extraintestinal manifestations recognized to be associated with inflammatory bowel disease,particularly important radiographic endoscopic and histological findings etal.The pedigrees were then drawn. Results: In our study,we observed hereditory predispose phenomenon in inflammatory bowel disease patients.First-degree relatives are prone to developing inflammatory bowel disease,a highest risk of inflammatory bowel disease in siblings.The member of the later generation was younger at diagnosis than the member of the preceding generation,offsprings have an earlier onset and more severe form of disease than affected parents, family members showed some degree of concordance for the type and localization of disease.There is no difference between male and female in the incidence.Conclusion: We observed genetic susceptibility to inflammatory bowel disease in Chinese Hans.The results indicate the possibility of multifactorial model or autosomal recessive inheritance.Compared with other countries study materials,our study indicate that there is difference between different region and different races in the pathogenesis of inflammatory bowel disease,the genetic mechanism is complicated and it needs further study to discuss.