Association between PDCD1, CTLA4, and MECP2 gene polymorphisms and systemic lupus erythematosus in the Chinese Northern Han

Abstract

ABSTRACT. Systemic lupus erythematosus (SLE) is an autoimmune disease that results in chronic inflammation of different organ systems. Several susceptibility loci for SLE have been suggested in different populations, but the nature of the susceptibility genes has yet to be determined. The programmed cell death 1 gene (PDCD1), the cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, and the methyl-CpGbinding protein 2 gene (MECP2) are considered to be the candidate genes associated with SLE. We analyzed the role of PDCD1, CTLA4, and MECP2 gene polymorphisms in Han patients suffering from SLE. Using a casecontrol study, 263 SLE patients and 263 healthy controls were collected from Chinese Northern Han people. Genomic DNA was prepared from peripheral blood leukocytes and the genotyping was performed using a polymerase chain reaction/ligase detection reaction assay. A statistically significant difference was observed in the rs2239464 and rs2075596 polymorphisms of MECP2 between SLE subjects and controls. The GG genotype in rs2239464 and the GG genotype in rs2075596 might protect against SLE. In contrast, no such association was found in the CTLA4 or PDCD1 polymorphisms. The rs2239464 and rs2075596 polymorphisms of MECP2 might play a significant role in the development of SLE in the Northern Han of China.

Programmed cell death 1 gene polymorphism as a possible risk for systemic lupus erythematosus in Egyptian females

“…22 Our results showed that the allele frequency of PD1.5C/T polymorphism did not differ significantly between SLE cases and controls. This is in accordance with the study by Dong et al 23 among the Chinese Northern Han population, while Lee et al 29 showed a significant association of the C allele with lupus susceptibility in Europeans but not in Africans or Latin Americans.…”

“…This result seemed to be due to low minor allele frequency of this polymorphism in their populations (0.5%). Similar results were reported by Dong et al 23 in Chinese Northern Han people. Also, Canto et al 24 and Mahmoudi et al 25 did not find any correlation between this polymorphism and lupus susceptibility in Southern Brazilian and Iranian populations, respectively.…”

“…17 Moreover, other contributing factors such as gender, age, the severity of the disease, the age at disease onset, smoking and family history can explain that the SNP could act in a different way among various ethnic groups. 23 In the current study, the genotype and allele distribution of the PD1.5C/T polymorphism was inconsistent with the HWE. Deviation from the HWE might be due to absence of the mutant genotype TT in the subjects included in our study.…”

The Role of MECP2 and CCR5 Polymorphisms on the Development and Course of Systemic Lupus Erythematosus

“…Bentham et al revealed in his GWAS analysis that MECP2 rs1734787 is an appropriate SLE risk factor for people of European ancestry [45]. However, Dong et al [46] in Chinese Northern Han revealed that GG genotype in rs2075596 and rs2239464 in MECP2 can protect against SLE.…”

CTLA‐4 polymorphisms in Thai patients with rheumatoid arthritis, systemic lupus erythematosus, and systemic sclerosis

“…Although polymorphisms of the CTLA-4 gene in patients with RA, SLE and SSc have been studied worldwide, the majority of them in Asia were reported from China, [3][4][5] Japan, [6][7][8][9] Korea, [10][11][12] Taiwan, 13,14 Iran 15,16 and India. 17,18 However, the results from these studies were inconsistent.…”