Heterozygous variants of NOD2, IL10RA, PLA2G6 and COL7A1 correlate with Crohn's disease

Heterozygous variants of NOD2, IL10RA, PLA2G6 and COL7A1 correlate with Crohn's disease

To identify candidate pathogenic genes of early-stage Crohn's disease (CD) and predict potential roles of genetic factors in CD, we performed whole exome sequencing on a child with early-stage Crohn's disease (CD) and her parents (core family), found that the patient carried heterozygous v...

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Veröffentlicht in:Heliyon 2024-01, Vol.10 (1), p.e22968-e22968, Article e22968
Hauptverfasser: Zhang, Qiang, Wang, Xizi, Zheng, Juan, Lü, Qiang, Li, Rongrong, Jia, Xiaodong, Gu, Mingliang
Format: Artikel
Sprache:eng
Schlagworte:
COL7A1
Crohn's disease
IL10RA
NOD2
PLA2G6
Whole exome sequencing
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Zusammenfassung:To identify candidate pathogenic genes of early-stage Crohn's disease (CD) and predict potential roles of genetic factors in CD, we performed whole exome sequencing on a child with early-stage Crohn's disease (CD) and her parents (core family), found that the patient carried heterozygous variants of 4 genes: NOD2 c. 2257 C > T, IL10RA c. 301 C > T, PLA2G6 c. 2029 C > T, COL7A1 c. 3190 G > A. Heterozygous variants of NOD2, IL10RA, PLA2G6 and COL7A1, intestinal inflammatory response is triggered, normal intestinal wall tissue damage, leading to CD phenotype.
ISSN:2405-8440
2405-8440
DOI:10.1016/j.heliyon.2023.e22968