scholarly journals Genetic association of rs1344706 in ZNF804A with bipolar disorder and schizophrenia susceptibility in Chinese populations

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Shuquan Rao ◽  
Yao Yao ◽  
Joanne Ryan ◽  
Chunhui Jin ◽  
Yong Xu ◽  
...  
2009 ◽  
Vol 18 (24) ◽  
pp. 4897-4904 ◽  
Author(s):  
Yang Li ◽  
Wen-Jing Wang ◽  
Huiqing Cao ◽  
Jiehua Lu ◽  
Chong Wu ◽  
...  

2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Yuan-yuan Qi ◽  
Xin-ran Liu ◽  
Ying-xin He ◽  
Min Zhou ◽  
Xiang-hui Ning ◽  
...  

A recent genome-wide association study (GWAS) of Asian ancestry reported that single nucleotide polymorphism (SNP) in TERT (telomerase reverse transcriptase) was associated with systemic lupus erythematosus (SLE). TERT has a critical role in maintaining the chromosomal stability and the length of telomere. Given that only a small portion of the genetic heritability of SLE has been explained so far, we aimed to identify novel loci in telomere-related genes responsible for SLE susceptibility in Chinese populations. We performed a comprehensive genetic association analysis of SLE with telomere-related genes. To identify functional significance, we analyzed the publicly available HaploReg v4.1 and RegulomeDB databases. Differential gene expression analysis was also performed using ArrayExpress. A novel signal of PINX1 rs6984094 was identified ( P discovery = 4.13 × 10 − 2 , OR = 0.58 , 95% CI 0.35-0.98) and successfully replicated ( P replication = 5.73 × 10 − 3 , OR = 0.45 , 95% CI 0.26-0.81). Multiple layers of functional analysis suggested that the PINX1 rs6984094 risk T allele exhibited increased nuclear protein binding. We also observed an increased expression of PINX1 mRNA in peripheral blood mononuclear cells from SLE patients compared with healthy controls. Overall, we observed a novel genetic association between PINX1 (encodes the PinX1 protein, an inhibitory telomerase enzyme that lengthens telomeres) and SLE susceptibility in Chinese populations.


2011 ◽  
Vol 1 (2) ◽  
pp. 119-124 ◽  
Author(s):  
Anthony Carrard ◽  
Annick Salzmann ◽  
Nader Perroud ◽  
Jérémie Gafner ◽  
Alain Malafosse ◽  
...  

2011 ◽  
Vol 26 ◽  
pp. e172
Author(s):  
Se Hyun Kim ◽  
Kyu Young Lee ◽  
Soon Young Shin ◽  
Eun Jeong Joo ◽  
Joo Youn Song ◽  
...  

2012 ◽  
Vol 2 (10) ◽  
pp. e169-e169 ◽  
Author(s):  
M-L McDonald ◽  
C MacMullen ◽  
D J Liu ◽  
S M Leal ◽  
R L Davis

2011 ◽  
Vol 21 (2) ◽  
pp. 77-84 ◽  
Author(s):  
Sarah M. Hartz ◽  
Peng Lin ◽  
Howard J. Edenberg ◽  
Xiaoling Xuei ◽  
Nanette Rochberg ◽  
...  

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