Tags

Type your tag names separated by a space and hit enter

Genome-wide copy number variation study and gene expression analysis identify ABI3BP as a susceptibility gene for Kashin-Beck disease.
Hum Genet. 2014 Jun; 133(6):793-9.HG

Abstract

Kashin-Beck disease (KBD) is a chronic osteochondropathy. In this study, we conducted the first genome-wide copy number variation study (GCNVS) of KBD totally involving 2,743 Chinese Han adults. GCNVS was first performed using Affymetrix Human SNP6.0 Arrays. The identified copy number variations (CNVs) were then replicated in an independent Chinese Han sample containing 1,026 subjects. SNP genotyping, CNV identification and quality control were implemented by Birdsuite. STRUCTURE and EIGENSTRAT were applied for controlling potential population stratification in the GCNVS. Association analysis was conducted using PLINK. Microarray and qRT-PCR were also conducted to compare the expression levels of the genes overlapping with identified CNVs between KBD patients and healthy controls. GCNVS found that CNV452 (P value = 7.78 × 10(-5)) overlapping with ABI3BP gene was significantly associated with KBD. Replication association study observed that rs9850273 (P value = 0.008) and rs7613610 (P value = 0.021) in ABI3BP gene were significantly associated with KBD. Gene expression analysis also found that ABI3BP was up-regulated in KBD patients compared to healthy controls. Our results suggest that ABI3BP was a novel susceptibility gene for KBD.

Authors+Show Affiliations

Key Laboratory of Environment and Gene Related Diseases of Ministry Education, Faculty of Public Health, College of Medicine, Xi'an Jiaotong University, Xi'an, People's Republic of China, fzhxjtu@mail.xjtu.edu.cn.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

24442417

Citation

Zhang, Feng, et al. "Genome-wide Copy Number Variation Study and Gene Expression Analysis Identify ABI3BP as a Susceptibility Gene for Kashin-Beck Disease." Human Genetics, vol. 133, no. 6, 2014, pp. 793-9.
Zhang F, Guo X, Zhang Y, et al. Genome-wide copy number variation study and gene expression analysis identify ABI3BP as a susceptibility gene for Kashin-Beck disease. Hum Genet. 2014;133(6):793-9.
Zhang, F., Guo, X., Zhang, Y., Wen, Y., Wang, W., Wang, S., Yang, T., Shen, H., Chen, X., Tian, Q., Tan, L., & Deng, H. W. (2014). Genome-wide copy number variation study and gene expression analysis identify ABI3BP as a susceptibility gene for Kashin-Beck disease. Human Genetics, 133(6), 793-9. https://doi.org/10.1007/s00439-014-1418-4
Zhang F, et al. Genome-wide Copy Number Variation Study and Gene Expression Analysis Identify ABI3BP as a Susceptibility Gene for Kashin-Beck Disease. Hum Genet. 2014;133(6):793-9. PubMed PMID: 24442417.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genome-wide copy number variation study and gene expression analysis identify ABI3BP as a susceptibility gene for Kashin-Beck disease. AU - Zhang,Feng, AU - Guo,Xiong, AU - Zhang,Yinping, AU - Wen,Yan, AU - Wang,Weizhuo, AU - Wang,Sen, AU - Yang,Tielin, AU - Shen,Hui, AU - Chen,Xiangding, AU - Tian,Qing, AU - Tan,Lijun, AU - Deng,Hong-Wen, Y1 - 2014/01/21/ PY - 2013/04/10/received PY - 2014/01/05/accepted PY - 2014/1/21/entrez PY - 2014/1/21/pubmed PY - 2014/6/27/medline SP - 793 EP - 9 JF - Human genetics JO - Hum. Genet. VL - 133 IS - 6 N2 - Kashin-Beck disease (KBD) is a chronic osteochondropathy. In this study, we conducted the first genome-wide copy number variation study (GCNVS) of KBD totally involving 2,743 Chinese Han adults. GCNVS was first performed using Affymetrix Human SNP6.0 Arrays. The identified copy number variations (CNVs) were then replicated in an independent Chinese Han sample containing 1,026 subjects. SNP genotyping, CNV identification and quality control were implemented by Birdsuite. STRUCTURE and EIGENSTRAT were applied for controlling potential population stratification in the GCNVS. Association analysis was conducted using PLINK. Microarray and qRT-PCR were also conducted to compare the expression levels of the genes overlapping with identified CNVs between KBD patients and healthy controls. GCNVS found that CNV452 (P value = 7.78 × 10(-5)) overlapping with ABI3BP gene was significantly associated with KBD. Replication association study observed that rs9850273 (P value = 0.008) and rs7613610 (P value = 0.021) in ABI3BP gene were significantly associated with KBD. Gene expression analysis also found that ABI3BP was up-regulated in KBD patients compared to healthy controls. Our results suggest that ABI3BP was a novel susceptibility gene for KBD. SN - 1432-1203 UR - https://www.unboundmedicine.com/medline/citation/24442417/Genome_wide_copy_number_variation_study_and_gene_expression_analysis_identify_ABI3BP_as_a_susceptibility_gene_for_Kashin_Beck_disease_ L2 - https://dx.doi.org/10.1007/s00439-014-1418-4 DB - PRIME DP - Unbound Medicine ER -