Programmed Death-1 Gene Polymorphisms in Patients With Systemic Lupus Erythematosus in Taiwan

Abstract

To investigate the role of programmed cell death-1 (PD-1) gene polymorphisms in the development of systemic lupus erythematosus (SLE) in Taiwan, 109 patients with SLE and 100 healthy controls were enrolled in this study. The PD-1 gene polymorphisms were determined by the method of polymerase chain reaction/restriction fragment length polymorphism. This study showed that the genotype distributions of PD-1 7209 C/T polymorphisms were significantly different between the patients with SLE and controls (P=0.002, Pc=0.018). The frequencies of the PD-1 7209 C/C genotype and PD-1 7209 C allele were significantly higher in the patients with SLE than those of the controls (P=0.001, OR=2.6, 95% CI=1.5-4.6, and P=0.002, OR=2.1, 95% CI=1.3-3.4, Pc=0.018, respectively). Moreover, the association of PD-1 7209 C with susceptibility to SLE was independent of the PD-1 ligand. This study also showed that the PD-1-536 A 7146 G 7209 C 7499 G haplotype was associated with the development of SLE in Taiwan.

Association of an A/C single nucleotide polymorphism in programmed cell death-ligand 1 gene with Graves' disease in Japanese patients.

“…The genotype frequency of PD-L2 47103 T/T, in comparison with 47103 C/C, has been reported to significantly increase in patients with SLE (16). A PD-L1 gene polymorphism has not been studied yet.…”

“…A PD-L2 gene polymorphism is associated with susceptibility to SLE (16). Newby et al (17) reported tag single nucleotide polymorphism (SNP) screening of the PD-1 gene for an association with GD.…”

Blockade of Programmed Death-1 in Young (New Zealand Black × New Zealand White)F1 Mice Promotes the Activity of Suppressive CD8+ T Cells That Protect from Lupus-Like Disease

“…In murine models, PD-1 deficiency causes autoimmune diseases, including systemic lupus erythematosus (SLE), depending on the genetic background (2). Of note, single nucleotide polymorphisms in the pdcd1 gene encoding PD-1 have been associated with susceptibility to SLE in humans (10,11). PD-1-deficient B6 mice developed splenomegaly, lupus-like immune complex glomerulonephritis, anti-nuclear Abs, and destructive arthritis with aging (12), whereas BALB/c mice lacking PD-1 developed a fatal autoantibody-mediated cardiomyopathy with massive thrombosis (13).…”

Genetic studies of systemic lupus erythematosus in Asia: where are we now?

“…98 However, þ 7146G/A showed a protective association with SLE in a Spanish population 100 and no association in Swedish, 101 independent Caucasian 102 and multiethnic populations including European Americans and African Americans. 103 Three genetic studies that investigated the genetic association of PDCD1 with SLE susceptibility in Chinese populations found that the þ 7146G/A SNP of PDCD1 was not associated with SLE, 104,105 whereas that of þ 7209C/T was associated with SLE susceptibility. 105 OAZ (16q12).…”

“…103 Three genetic studies that investigated the genetic association of PDCD1 with SLE susceptibility in Chinese populations found that the þ 7146G/A SNP of PDCD1 was not associated with SLE, 104,105 whereas that of þ 7209C/T was associated with SLE susceptibility. 105 OAZ (16q12). OAZ was identified in a fine-mapping linkage study of Chinese SLE families as being associated with lupus nephritis, 106 but this result has not been replicated.…”