Meta-analysis of programmed cell death 1 polymorphisms with systemic lupus erythematosus risk

Abstract

The association of polymorphisms in programmed cell death 1 (PDCD1) gene with systemic lupus erythematosus (SLE) risk is inconsistent across different studies. This meta-analysis is aimed to provide reliable evidence to the association of five common PDCD1 polymorphisms (PD1.1, PD1.2, PD1.3, PD1.5 and PD1.6) with SLE risk. A total of 28 studies with 4,344 SLE cases and 5,474 healthy controls were included in this meta-analysis. PD1.3 polymorphism was significantly associated with SLE in the overall population (A vs. G: OR = 1.35, 95% CI = 1.12-1.63; GA vs.GG: OR = 1.41, 95% CI = 1.12-1.76; AA+GA vs. GG: OR = 1.41, 95% CI = 1.13-1.7). In the stratified analyses based on ethnicity, we found a significant association in Caucasians and in Mexicans. In the subgroup analyses by gender, a significant association was found between PD1.3 polymorphism and SLE risk in males. The results also suggested an association between the PD1.6 polymorphism and decreased SLE risk (A vs. G: OR = 0.84, 95% CI = 0.73-0.96). Our meta-analysis revealed that PD1.3 polymorphism may increase the susceptibility to SLE, particularly in Caucasians, while PD1.6 may be a protective factor to SLE.

Analysis of expression of the PD-1/PD-L1 immune checkpoint system and its prognostic impact in gastroenteropancreatic neuroendocrine tumors

“…Therefore, the blockade of PD-1 or their ligands results in an increased reactivity of the immune system, in vitro and in vivo , in animal models and humans 21 . Accordingly, different genetic polymorphisms of the PD-1 gene (PDCD1) have been associated with autoimmune disease, including type-1 diabetes mellitus and systemic lupus erythematosus 22,23 .…”

Association of interleukin 22 gene polymorphisms and serum IL-22 level with risk of systemic lupus erythematosus in a Chinese population

“…Approximately 17-48/100 000 people worldwide suffer from SLE, and lupus could damage their immune system by the direct action of antibodies that influence physical and mental health, as well as quality of life and life expectancy in patients [3,4]. Therefore, genes have been demonstrated to influence individuals' susceptibility to SLE, such as interleukin (IL-6), IL-10, IL-18, programmed cell death 1 (PDCD1), Toll-like receptor (TLR)-9 and TLR-5 [7][8][9][10][11][12]. However, until now, the particular aetiology and pathogenesis of SLE have not been elucidated clearly.…”

“…Environmental factors could trigger abnormal autoimmune responses in individuals who carry a predisposing genetic background. Therefore, genes have been demonstrated to influence individuals' susceptibility to SLE, such as interleukin (IL-6), IL-10, IL-18, programmed cell death 1 (PDCD1), Toll-like receptor (TLR)-9 and TLR-5 [7][8][9][10][11][12].…”

Association of a PDCD1 Polymorphism With Sympathetic Ophthalmia in Han Chinese

“…33 The human gene that encodes PD-1 is located on 2q37.3 and is named PDCD1. PDCD1 gene polymorphisms have been shown to be associated with several autoimmune diseases like VKH disease, 11 systemic lupus erythematosus (SLE), 34,35 rheumatoid arthritis (RA), 36,37 type I diabetes (TID), 38 multiple sclerosis (MS), 39 and ankylosing spondylitis (AS). 40 The protective locus described in our study, rs2227981, is located at exon 5 and may have an impact on gene expression and function.…”