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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.

Association of the PINX1 Variant rs6984094, Which Lengthens Telomeres, with Systemic Lupus Erythematosus Susceptibility in Chinese Populations