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Article

Crohn’s Disease Susceptibility and Onset Are Strongly Related to Three NOD2 Gene Haplotypes

1
Institute of Human Genetics, Polish Academy of Sciences, 60-479 Poznan, Poland
2
Department of General, Endocrinological Surgery and Gastroenterological Oncology, Poznan University of Medical Sciences, 60-355 Poznan, Poland
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Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, 60-572 Poznan, Poland
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Department of General and Colorectal Surgery, Poznan University of Medical Sciences, 61-285 Poznan, Poland
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Department of Gastroenterology, Allergology and Pediatrics, Polish Mother’s Memorial Hospital–Research Institute, 93-338 Lodz, Poland
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Independent Public Health Care Centre in Nowa Sol, Multispecialty Hospital, 67-100 Nowa Sol, Poland
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Department of Gastroenterology, Dietetics and Internal Diseases, Poznan University of Medical Sciences, 60-355 Poznan, Poland
*
Authors to whom correspondence should be addressed.
Academic Editor: Ewa Małecka-Panas
J. Clin. Med. 2021, 10(17), 3777; https://doi.org/10.3390/jcm10173777
Received: 23 June 2021 / Revised: 18 August 2021 / Accepted: 19 August 2021 / Published: 24 August 2021
(This article belongs to the Special Issue Advances in Inflammatory Bowel Disease)
The genetic background and the determinants influencing the disease form, course, and onset of inflammatory bowel disease (IBD) remain unresolved. We aimed to determine the NOD2 gene haplotypes and their relationship with IBD occurrence, clinical presentation, and onset, analyzing a cohort of 578 patients with IBD, including children, and 888 controls. Imaging or endoscopy with a histopathological confirmation was used to diagnose IBD. Genotyping was performed to assess the differences in genotypic and allelic frequencies. Linkage disequilibrium was analyzed, and associations between haplotypes and clinical data were evaluated. We emphasized the prevalence of risk alleles in all analyzed loci in patients with Crohn disease (CD). Interestingly, c.2722G>C and c.3019_3020insC alleles were also overrepresented in ulcerative colitis (UC). T-C-G-C-insC, T-C-G-T-insC, and T-T-G-T-wt haplotypes were correlated with the late-onset form of CD (OR = 23.01, 5.09, and 17.71, respectively), while T-T-G-T-wt and C-C-G-T-wt were prevalent only in CD children (OR = 29.36, and 12.93, respectively; p-value = 0.001). In conclusion, the presence of c.3019_3020insC along with c.802C>T occurred as the most fundamental contributing diplotype in late-onset CD form, while in CD children, the mutual allele in all predisposing haplotypes was the c.2798 + 158T. Identifying the unique, high-impact haplotypes supports further studies of the NOD2 gene, including haplotypic backgrounds. View Full-Text
Keywords: Crohn’s disease; ulcerative colitis; disease susceptibility; disease onset; NOD2 gene; DNA sequence variants; allele distribution; haplotypes; population genetics Crohn’s disease; ulcerative colitis; disease susceptibility; disease onset; NOD2 gene; DNA sequence variants; allele distribution; haplotypes; population genetics
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MDPI and ACS Style

Kaczmarek-Ryś, M.; Hryhorowicz, S.T.; Lis, E.; Banasiewicz, T.; Paszkowski, J.; Borejsza-Wysocki, M.; Walkowiak, J.; Cichy, W.; Krokowicz, P.; Czkwianianc, E.; Hnatyszyn, A.; Krela-Kaźmierczak, I.; Dobrowolska, A.; Słomski, R.; Pławski, A. Crohn’s Disease Susceptibility and Onset Are Strongly Related to Three NOD2 Gene Haplotypes. J. Clin. Med. 2021, 10, 3777. https://doi.org/10.3390/jcm10173777

AMA Style

Kaczmarek-Ryś M, Hryhorowicz ST, Lis E, Banasiewicz T, Paszkowski J, Borejsza-Wysocki M, Walkowiak J, Cichy W, Krokowicz P, Czkwianianc E, Hnatyszyn A, Krela-Kaźmierczak I, Dobrowolska A, Słomski R, Pławski A. Crohn’s Disease Susceptibility and Onset Are Strongly Related to Three NOD2 Gene Haplotypes. Journal of Clinical Medicine. 2021; 10(17):3777. https://doi.org/10.3390/jcm10173777

Chicago/Turabian Style

Kaczmarek-Ryś, Marta, Szymon T. Hryhorowicz, Emilia Lis, Tomasz Banasiewicz, Jacek Paszkowski, Maciej Borejsza-Wysocki, Jarosław Walkowiak, Wojciech Cichy, Piotr Krokowicz, Elżbieta Czkwianianc, Andrzej Hnatyszyn, Iwona Krela-Kaźmierczak, Agnieszka Dobrowolska, Ryszard Słomski, and Andrzej Pławski. 2021. "Crohn’s Disease Susceptibility and Onset Are Strongly Related to Three NOD2 Gene Haplotypes" Journal of Clinical Medicine 10, no. 17: 3777. https://doi.org/10.3390/jcm10173777

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