title: Association between PDCD1, CTLA4, and MECP2 gene polymorphisms and systemic lupus erythematosus in the Chinese Northern Han.
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-CpG-binding 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 case-control 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.
authors.affiliation: Clinical Laboratory Department, First Hospital of Hohhot in Inner Mongolia, Hohhot, China.
authors.forename: H R
authors.initials: HR
authors.lastname: Dong
authors.affiliation: Clinical Laboratory Department, First Hospital of Hohhot in Inner Mongolia, Hohhot, China.
authors.forename: H S
authors.initials: HS
authors.lastname: Li
authors.affiliation: Clinical Laboratory Department, First Hospital of Hohhot in Inner Mongolia, Hohhot, China.
authors.forename: S C
authors.initials: SC
authors.lastname: Wang
authors.affiliation: Clinical Laboratory Department, First Hospital of Hohhot in Inner Mongolia, Hohhot, China.
authors.forename: Q M
authors.initials: QM
authors.lastname: Balin
authors.affiliation: Department of Nuclear Medicine, Inner Mongolia Medical University Affiliated Hospital, Hohhot, China.
authors.forename: P Y
authors.initials: PY
authors.lastname: Chang
mesh_terms: D000328:Adult; D060908:CTLA-4 Antigen / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000473:pathology; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D061026:Programmed Cell Death 1 Receptor / Q000235:genetics*
chemical_list: D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor