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Consanguinity and inflammatory bowel diseases: is there a relation?
Mohammad El Mouzan1, Mohammad Al-Mofarreh, Asaad Assiri
1Department of Pediatrics, Division of Gastroenterology, College of Medicine and King Khaled University Hospital, King Saud University, Riyadh, Saudi Arabia. drmouzan@gmail.com
Insights
Consanguinity was not significantly linked to inflammatory bowel diseases (IBD) in children. Higher consanguinity rates were observed in controls compared to IBD and ulcerative colitis patients, but not Crohn disease.
Area of Science:
- Pediatric Gastroenterology
- Genetics
- Epidemiology
Background:
- Inflammatory bowel diseases (IBD), including Crohn disease (CD) and ulcerative colitis (UC), have complex etiologies.
- Consanguinity, or mating between related individuals, can influence the prevalence of genetic disorders.
Purpose of the Study:
- To investigate the potential relationship between parental consanguinity and the occurrence of IBD in a pediatric population.
- To explore differences in consanguinity rates among children with IBD, CD, UC, and healthy controls.
Main Methods:
- A retrospective review of medical records for 138 children diagnosed with IBD.
- Data collected included age, sex, IBD type, consanguinity status, and family history (FH) of IBD.
- Prevalence of consanguinity and first-cousin consanguinity was compared between patient groups and controls.
Main Results:
- The prevalence of consanguinity was 50% in IBD, 53% in CD, 39% in UC, and 60% in controls.
- Consanguinity was significantly higher in controls than in IBD and UC patients (P=0.02 and P=0.026, respectively).
- No significant differences in consanguinity were found between CD patients and controls, or in the prevalence of first-cousin consanguinity across all groups.
Conclusions:
- Parental consanguinity does not appear to be significantly related to IBD in this pediatric cohort.
- The findings suggest a potentially reduced genetic susceptibility in the context of IBD, particularly when no family history is present.
- Further research with larger sample sizes and detailed multi-generational family history is warranted to fully elucidate the role of consanguinity in IBD.
Objective:
The aim of the present study was to investigate the relation between consanguinity and inflammatory bowel diseases (IBD).
Methods:
Review of the medical records of children with a final diagnosis of IBD to determine age, sex, and type of IBD, supplemented by information on consanguinity and family history (FH) of IBD in relatives. There were 138 children, ages 1.4 to 19.3 years, and 50% were girls.
Results:
The prevalence of consanguinity was 50%, 53%, 39% and 60% in IBD, Crohn disease (CD), ulcerative colitis (UC), and controls, respectively. There was a significantly higher prevalence of consanguinity in controls than in patients with IBD and UC (P = 0.02 and 0.026, respectively), whereas the difference between CD patients and controls was not significant (P = 0.20). The prevalence of first cousin consanguinity was 71%, 73.2%, 61.5% and 70.5% in patients with IBD, CD, UC, and controls, respectively, indicating no significant difference between these conditions and controls (P = 0.95, P = 0.78, P = 0.33, respectively). There was no significant difference in the prevalence of consanguinity in the parents of children with or without a FH of either CD (P = 0.89) or UC (P = 0.32).
Conclusions:
There is no significant relation between parental consanguinity and IBD in this population, especially when there is no FH of disease, suggesting reduced genetic susceptibility; however, further studies including larger sample size and details of FH of consanguinity and IBD in multiple generations are needed for further definitions of the role of consanguinity.
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