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

Qiang Zhang; Xizi Wang; Juan Zheng; Qiang Lü; Rongrong Li; Xiaodong Jia; Mingliang Gu

doi:10.1016/j.heliyon.2023.e22968

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

Heliyon. 2023 Nov 30;10(1):e22968. doi: 10.1016/j.heliyon.2023.e22968. eCollection 2024 Jan 15.

Authors

Qiang Zhang¹, Xizi Wang¹, Juan Zheng¹, Qiang Lü¹, Rongrong Li¹, Xiaodong Jia¹, Mingliang Gu¹

Affiliation

¹ Joint Laboratory for Translational Medicine Research, Liaocheng People's Hospital, Liaocheng, China.

Abstract

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.

Keywords: COL7A1; Crohn's disease; IL10RA; NOD2; PLA2G6; Whole exome sequencing.