지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 767 - 775 (9page)
이용수
초록· 키워드
오류제보하기
Background/Aims: The aim of this study was to identify the profile of rare variants associated with Crohn’s disease (CD) using whole exome sequencing (WES) analysis of Korean children with CD and to evaluate whether genetic profiles could provide information during medical decision making. Methods: DNA samples from 18 control individuals and 22 patients with infantile, very-early and early onset CD of severe phenotype were used for WES. Genes were filtered using panels of inflammatory bowel disease (IBD)-associated genes and genes of primary immunodeficiency (PID) and monogenic IBD. Results: Eighty-one IBD-associated variants and 35 variants in PID genes were revealed by WES. The most frequently occurring variants were carried by nine (41%) and four (18.2%) CD probands and were ATG16L2 (rs11235604) and IL17REL (rs142430606), respectively. Twenty-four IBD-associated variants and 10 PID variants were predicted to be deleterious and were identified in the heterozygous state. However, their functions were unknown with the exception of a novel p.Q111X variant in XIAP (X chromosome) of a male proband. Conclusions: The presence of many rare variants of unknown significance limits the clinical applicability of WES for individual CD patients. However, WES in children may be beneficial for distinguishing CD secondary to PID.
목차
등록된 정보가 없습니다.
참고문헌 (25)
참고문헌 신청
Al-Herz W / 2014 / Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Im
Anderson CA / 2011 / Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 / Nat Genet 43 : 246 ~ 252
D’Antonio M / 2013 / WEP: a high-performance analysis pipeline for whole-exome data / BMC Bioinformatics 14 (7) : S11 ~
ENCODE Project Consortium / 2007 / Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project / Nature 447 : 799 ~ 816
Franke A / 2010 / Genome-wide meta-analysis increases to 71 the number of confirmed Crohn’s disease susceptibility loci / Nat Genet 42 : 1118 ~ 1125
Anderson CA / 2011 / Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 / Nat Genet 43 : 246 ~ 252
D’Antonio M / 2013 / WEP: a high-performance analysis pipeline for whole-exome data / BMC Bioinformatics 14 (7) : S11 ~
ENCODE Project Consortium / 2007 / Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project / Nature 447 : 799 ~ 816
Franke A / 2010 / Genome-wide meta-analysis increases to 71 the number of confirmed Crohn’s disease susceptibility loci / Nat Genet 42 : 1118 ~ 1125
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides
Yonsei Medical Journal
2018 .01
-
Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses
Annals of Laboratory Medicine
2019 .01
-
Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders
Annals of Laboratory Medicine
2019 .01
-
Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology
PSYCHIATRY INVESTIGATION
2016 .01
-
Report of the Korean Association of External Quality Assessment Service on Next-Generation Sequencing Analysis for Somatic Variants (2018–2020)
Journal of Laboratory Medicine And Quality Assurance
2021 .01
-
Status of the SARS-CoV-2 Mutant Virus (Delta, Omicron) outbreak in Chungcheongnamdo, Korea in Early 2022
JOURNAL OF BACTERIOLOGY AND VIROLOGY
2022 .12
-
Novel Pathogenic Variant (c.3178G>A) in the SMC1A Gene in a Family With Cornelia de Lange Syndrome Identified by Exome Sequencing
Annals of Laboratory Medicine
2015 .01
-
한국인 신경섬유종증 1형 환자에서 관찰된 NF1 유전자 변이 분포
Laboratory Medicine Online
2021 .01
-
SARS-CoV-2 Variants of Concern
Yonsei Medical Journal
2021 .11
-
Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings
Yonsei Medical Journal
2024 .01
-
Structural Characteristics of Seven IL-32 Variants
Immune Network
2019 .04
-
TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism
Annals of Laboratory Medicine
2024 .07
-
Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing
Annals of Laboratory Medicine
2017 .01
-
CD44 Variant 9 Serves as a Poor Prognostic Marker in Early Gastric Cancer, But Not in Advanced Gastric Cancer
Cancer Research and Treatment
2016 .01
-
Pediatric Follicular Lymphoma: A Rare Variant
Annals of Dermatology
2018 .01
-
Thrombocythemia 1 With THPO Variant (c.13+1G>A) Diagnosed Using Targeted Exome Sequencing: First Case in Korea
Annals of Laboratory Medicine
2020 .01
-
PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder
Journal Of Movement Disorders
2018 .01
-
Targeted Next-Generation Sequencing of Plasma Cell-Free DNA in Korean Patients with Hepatocellular Carcinoma
Annals of Laboratory Medicine
2021 .01
-
Genetic Differences between Physical Injury Patients With and Without Post-traumatic Syndrome: Focus on Secondary Findings and Potential Variants Revealed by Whole Exome Sequencing
Clinical Psychopharmacology and Neuroscience
2021 .11
-
Association study between OCTN1 functional haplotypes and Crohn’s disease in a Korean population
The Korean Journal of Physiology & Pharmacology
2017 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0