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- Title
Association of the Variant rs6984094, Which Lengthens Telomeres, with Systemic Lupus Erythematosus Susceptibility in Chinese Populations.
- Authors
Qi, Yuan-yuan; Liu, Xin-ran; He, Ying-xin; Zhou, Min; Ning, Xiang-hui; Zhai, Ya-ling; Zhang, Xiao-xue; Wang, Xiao-yang; Zhao, Ya-fei; Cui, Yan; Zhao, Zhan-Zheng
- Abstract
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 (Pdiscovery = 4.13 × 10-2, OR = 0.58, 95% CI 0.35-0.98) and successfully replicated (Preplication = 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.
- Subjects
SYSTEMIC lupus erythematosus; MONONUCLEAR leukocytes; TELOMERASE reverse transcriptase; GENOME-wide association studies; TELOMERES
- Publication
Journal of Immunology Research, 2021, p1
- ISSN
2314-8861
- Publication type
journal article
- DOI
10.1155/2021/7079359