title: Association between polymorphisms in PDCD1 gene and aplastic anemia in Chinese Han population.
abstract: Single nucleotide polymorphism (SNP) of programmed cell death 1 (PD-1, encoded by PDCD1) has been reported to be associated with several autoimmune diseases including rheumatoid arthritis (RA), Graves' disease and multiple sclerosis (MS). In order to study the correlation between PD-1 gene polymorphism and aplastic anemia in a Chinese Han population, two SNPs, PD-1.1 G/A (rs36084323) and PD-1.6 G/A (rs10204525), were genotyped in 166 patients with aplastic anemia and 144 healthy controls by direct sequencing. All genotype distributions in both patients and controls were in Hardy-Weinberg equilibrium. Associations of genotypes and alleles with aplastic anemia were analyzed. The results suggested that the G allele of PD-1.1 was associated with an increased risk for aplastic anemia, while SNP of PD-1.6 was not associated with aplastic anemia in a Chinese Han population.
authors: Department of Pharmacology, College of Pharmaceutical Science, Soochow University , Suzhou , People's Republic of China.
authors: Zixia
authors: Z
authors: Wu
authors: Miao
authors: M
authors: Miao
authors: Yuhua
authors: Y
authors: Qiu
authors: Zhenghong
authors: Z
authors: Qin
authors: Jin
authors: J
authors: Wang
authors: Yiguo
authors: Y
authors: Jiang
authors: Zhijun
authors: Z
authors: Ming
authors: Xueguang
authors: X
authors: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D000741:Anemia, Aplastic / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D061026:Programmed Cell Death 1 Receptor / Q000235:genetics*; D055815:Young Adult
chemical_list: C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor