Association analysis identifies new risk loci for congenital heart disease in Chinese populations

Lin, Yuan; Guo, Xuejiang; Zhao, Bowen; Liu, Juanjuan; Da, Min; Wen, Yiping; Hu, Yuanli; Ni, Bixian; Zhang, Kai; Yang, Shiwei; Xu, Jing; Dai, Juncheng; Wang, Xiaowei; Xia, Yankai; Ma, Hongxia; Jin, Guangfu; Yu, Shuang; Liu, Jiayin; Keavney, Bernard; Goodship, Judith A.; Cordell, Heather J.; Wang, Xinru; Shen, Hongbing; Sha, Jiahao; Zhou, Zuomin; Chen, Yijiang; Mo, Xuming; Luo, Lingfei; Hu, Zhibin

doi:10.1038/ncomms9082

Cited by 25 publications

(28 citation statements)

References 40 publications

(50 reference statements)

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“…20, 22, 25 All samples were array genotyped using Illumina arrays (Figure 1) in the CHOP Center for Applied Genomics.…”

Section: Methodsmentioning

confidence: 99%

“…For example, genome-wide significant and/or suggestive associations have been reported for conotruncal defects (CTDs), 15 tetralogy of Fallot, 16 left ventricular obstructive tract defects (LVOTDs) 17 and septal defects. 18–20 Most of the reported associations have yet to be independently replicated. Hence, while GWAS have provided some evidence that the risk of CHDs is influenced by common genetic variants, further studies are warranted.…”

Section: Introductionmentioning

confidence: 99%

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Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects

Agopian

Goldmuntz

Hákonarson

et al. 2017

Circ Cardiovasc Genet

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Background Maternal and inherited (i.e., case) genetic factors likely contribute to the etiology of congenital heart defects, but it is unclear whether individual common variants confer a large risk. Methods and Results To evaluate the relationship between individual common maternal/inherited genotypes and risk for heart defects, we conducted genome-wide association studies (GWAS) in five cohorts. Three cohorts were recruited at the Children’s Hospital of Philadelphia: 670 conotruncal heart defect (CTD) case-parent trios; 317 left ventricular obstructive tract defect (LVOTD) case-parent trios; and 406 CTD cases and 2,976 pediatric controls. Two cohorts were recruited through the Pediatric Cardiac Genomics Consortium: 355 CTD trios and 192 LVOTD trios. We also conducted meta-analyses using the GWAS results from the CTD cohorts, the LVOTD cohorts and from the combined CTD and LVOTD cohorts. In the individual GWAS, several genome-wide significant associations (p≤5×10−8) were observed. In our meta-analyses, one genome-wide significant association was detected: the case genotype for rs72820264, an intra-genetic SNP associated with LVOTDs (p=2.1×10−8). Conclusions We identified one novel candidate region associated with LVOTDs and report on several additional regions with suggestive evidence for association with CTD and/or LVOTD. These studies were constrained by the relatively small samples sizes and thus have limited power to detect small to moderate associations. Approaches that minimize the multiple testing burden (e.g. gene- or pathway-based) may, therefore, be required to uncover common variants contributing to the risk of these relatively rare conditions.

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“…20, 22, 25 All samples were array genotyped using Illumina arrays (Figure 1) in the CHOP Center for Applied Genomics.…”

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects

Agopian

Goldmuntz

Hákonarson

et al. 2017

Circ Cardiovasc Genet

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“…The known CHD genes play roles in transcriptional regulation, signal transduction, or encoding cardiac structural proteins13. Recently, progresses have been achieved for elucidating CHD genetic etiology22232425. However, since the genetics of CHDs is highly heterogeneous, the identification of CHD associated gene mutations are inefficient.…”

Section: Discussionmentioning

confidence: 99%

Human fetal heart specific coexpression network involves congenital heart disease/defect candidate genes

Wang

You

2017

Sci Rep

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Heart development is a complex process requiring dynamic transcriptional regulation. Disturbance of this process will lead to severe developmental defects such as congenital heart disease/defect (CHD). CHD is a group of complex disorder with high genetic heterogeneity, common pathways associated with CHD remains largely unknown. In the manuscript, we focused on the tissue specific genes in human fetal heart samples to explore such pathways. We used the RNA microarray dataset of human fetal tissues from ENCODE project to identify genes with heart tissue specific expression. A transcriptional network was constructed for these genes based on the Pearson correlation coefficients of their expression levels. Function, selective constraints and disease associations of these genes were then examined. Our analysis identified a network consisted of 316 genes with human fetal heart specific expression. The network was highly co-regulated and showed evolutionary conserved tissue expression pattern in tetrapod. Genes in this network are enriched in CHD specific genes and disease mutations. Using the transcriptomic data, we discovered a highly concerted gene network that might reflect a common pathway associated with the etiology of CHD. Such analysis should be helpful for disease associated gene identification in clinical studies.

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“…The incident light energy converted to electrical energy by a portable solar cell has to be stored in electrochemical storage devices like LIBs198, 223, 224, 225, 226, 227 or supercapacitors18, 168, 228, 229, 230, 231, 232 for effective usage 233. In many cases, lithium‐ion batteries234 are used where high energy densities and high operating voltages are required 230, 235, 236, 237.…”

Section: Self‐reliant Energy Systems For Wearablesmentioning

confidence: 99%

“…This issue can be addressed by integrating multiple PESCs connected in series to directly charge LIBs 226. Photocharging of LIBs by PESCs connected in series is shown in Figure 20 .…”

Section: Self‐reliant Energy Systems For Wearablesmentioning

confidence: 99%

Fiber‐Type Solar Cells, Nanogenerators, Batteries, and Supercapacitors for Wearable Applications

et al. 2018

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Wearable electronic devices represent a paradigm change in consumer electronics, on‐body sensing, artificial skins, and wearable communication and entertainment. Because all these electronic devices require energy to operate, wearable energy systems are an integral part of wearable devices. Essentially, the electrodes and other components present in these energy devices should be mechanically strong, flexible, lightweight, and comfortable to the user. Presented here is a critical review of those materials and devices developed for energy conversion and storage applications with an objective to be used in wearable devices. The focus is mainly on the advances made in the field of solar cells, triboelectric generators, Li‐ion batteries, and supercapacitors for wearable device development. As these devices need to be attached/integrated with the fabric, the discussion is limited to devices made in the form of ribbons, filaments, and fibers. Some of the important challenges and future directions to be pursued are also highlighted.

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Association analysis identifies new risk loci for congenital heart disease in Chinese populations

Cited by 25 publications

References 40 publications

Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects

Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects

Human fetal heart specific coexpression network involves congenital heart disease/defect candidate genes

Fiber‐Type Solar Cells, Nanogenerators, Batteries, and Supercapacitors for Wearable Applications

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