Heterozygous variants of NOD2, IL10RA, PLA2G6 and COL7A1 correlate with Crohn's disease
© 2023 The Authors..
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.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2024 |
|---|---|
| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:10 |
|---|---|
| Enthalten in: |
Heliyon - 10(2024), 1 vom: 15. Jan., Seite e22968 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Zhang, Qiang [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
COL7A1 |
|---|
| Anmerkungen: |
Date Revised 03.01.2024 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
|---|
| doi: |
10.1016/j.heliyon.2023.e22968 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM366537393 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM366537393 | ||
| 003 | DE-627 | ||
| 005 | 20240108141404.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 240108s2024 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.heliyon.2023.e22968 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1247.xml |
| 035 | |a (DE-627)NLM366537393 | ||
| 035 | |a (NLM)38163100 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Zhang, Qiang |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Heterozygous variants of NOD2, IL10RA, PLA2G6 and COL7A1 correlate with Crohn's disease |
| 264 | 1 | |c 2024 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Revised 03.01.2024 | ||
| 500 | |a published: Electronic-eCollection | ||
| 500 | |a Citation Status PubMed-not-MEDLINE | ||
| 520 | |a © 2023 The Authors. | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a COL7A1 | |
| 650 | 4 | |a Crohn's disease | |
| 650 | 4 | |a IL10RA | |
| 650 | 4 | |a NOD2 | |
| 650 | 4 | |a PLA2G6 | |
| 650 | 4 | |a Whole exome sequencing | |
| 700 | 1 | |a Wang, Xizi |e verfasserin |4 aut | |
| 700 | 1 | |a Zheng, Juan |e verfasserin |4 aut | |
| 700 | 1 | |a Lü, Qiang |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Rongrong |e verfasserin |4 aut | |
| 700 | 1 | |a Jia, Xiaodong |e verfasserin |4 aut | |
| 700 | 1 | |a Gu, Mingliang |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Heliyon |d 2015 |g 10(2024), 1 vom: 15. Jan., Seite e22968 |w (DE-627)NLM255913095 |x 2405-8440 |7 nnns |
| 773 | 1 | 8 | |g volume:10 |g year:2024 |g number:1 |g day:15 |g month:01 |g pages:e22968 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1016/j.heliyon.2023.e22968 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 10 |j 2024 |e 1 |b 15 |c 01 |h e22968 | ||