气候变化领域集成服务门户(CCPortal): NOTCH2, ATIC, MRI1, SLC6A13, ATP13A2 Genetic Variations are Associated with Ventricular Septal Defect in the Chinese Tibetan Population Through Whole-Exome Sequencing

CCPortal

DOI	10.2147/PGPM.S404438
	NOTCH2, ATIC, MRI1, SLC6A13, ATP13A2 Genetic Variations are Associated with Ventricular Septal Defect in the Chinese Tibetan Population Through Whole-Exome Sequencing
	Zhang, Xiaohui; Zhen, Da; Li, Xuemei; Yi, Faling; Zhang, Zhanhao; Yang, Wei; Li, Xuguang; Sheng, Yemeng; Liu, Xiaoli; Jin, Tianbo; He, Yongjun
发表日期	2023
EISSN	1178-7066
起始页码	389
结束页码	400
卷号	16
英文摘要	Background: Ventricular septal defect (VSD) is the most common congenital cardiac abnormality in children and the second most common in adults. This study aimed to explore the potentially causative genes in VSD patients in the Chinese Tibetan population, and to provide a theoretical basis for the genetic mechanism of VSD.Methods: Peripheral venous blood was collected from 20 VSD subjects, and whole-genome DNA was extracted. High-throughput sequencing was performed on qualified DNA samples using whole-exome sequencing (WES) technology. After filtering, detecting, and annotating qualified data, single nucleotide variations (SNVs) and insertion-deletion (InDel) markers were analyzed, and data processing software such as GATK, SIFT, Polyphen, and MutationTaster were used for comparative evaluation and prediction of pathogenic deleterious variants associated with VSD. Results: A total of 4793 variant loci, including 4168 SNVs, 557 InDels and 68 unknown loci and 2566 variant genes were obtained from 20 VSD subjects through bioinformatics analysis. According to the screening of the prediction software and database, the occurrence of VSD was predicted to be associated with five inherited pathogenic gene mutations, all of which were missense mutations, including NOTCH2 (c.1396C >A:p.Gln466Lys), ATIC (c.235C >T:p.Arg79Cys), MRI1 (c.629G >A:p.Arg210Gln), SLC6A13 (c.1138G >A:p.Gly380Arg), ATP13A2 (c.1363C >T:p.Arg455Trp).Conclusion: This study demonstrated that NOTCH2, ATIC, MRI1, SLC6A13, ATP13A2 gene variants were potentially associated with VSD in Chinese Tibetan population.
关键词	ventricular septal defect genes genetic variation whole-exome sequencing
英文关键词	CONGENITAL HEART-DISEASE; PURINE SYNTHESIS; NEURAL CREST; MUTATIONS; PROLIFERATION; PARKINSONISM; PREVALENCE; PROTEIN
WOS研究方向	Pharmacology & Pharmacy
WOS记录号	WOS:000982165200001
来源期刊	PHARMACOGENOMICS & PERSONALIZED MEDICINE
文献类型	期刊论文
条目标识符	http://gcip.llas.ac.cn/handle/2XKMVOVA/283705
作者单位	Xizang Minzu University; Xizang Minzu University; Xizang Minzu University; Xizang Minzu University; Xizang Minzu University; Xizang Minzu University
推荐引用方式 GB/T 7714	Zhang, Xiaohui,Zhen, Da,Li, Xuemei,et al. NOTCH2, ATIC, MRI1, SLC6A13, ATP13A2 Genetic Variations are Associated with Ventricular Septal Defect in the Chinese Tibetan Population Through Whole-Exome Sequencing[J],2023,16.
APA	Zhang, Xiaohui.,Zhen, Da.,Li, Xuemei.,Yi, Faling.,Zhang, Zhanhao.,...&He, Yongjun.(2023).NOTCH2, ATIC, MRI1, SLC6A13, ATP13A2 Genetic Variations are Associated with Ventricular Septal Defect in the Chinese Tibetan Population Through Whole-Exome Sequencing.PHARMACOGENOMICS & PERSONALIZED MEDICINE,16.
MLA	Zhang, Xiaohui,et al."NOTCH2, ATIC, MRI1, SLC6A13, ATP13A2 Genetic Variations are Associated with Ventricular Septal Defect in the Chinese Tibetan Population Through Whole-Exome Sequencing".PHARMACOGENOMICS & PERSONALIZED MEDICINE 16(2023).