title: Polymorphisms in PDCD1 gene are not associated with aplastic anemia in Chinese Han population.
abstract: Programmed cell death 1 (PD-1) has recently been reported to have a genetic association in several autoimmune diseases. The object of this study was to investigate the association of PD-1 polymorphisms with aplastic anemia (AA) in the Chinese Han population. In a case-control association study, three single-nucleotide polymorphisms (SNP), PD-1.3 G/A, PD-1.5 C/T, and PD-1.9 T/C, were genotyped in 166 AA patients and 264 healthy controls using polymerase chain reaction-restriction fragment length polymorphism assay. All genotype distributions in the patients and the controls were in Hardy-Weinberg equilibrium. The associations of genotypes and alleles with AA were analyzed. No differences in genotype and allele frequencies were elucidated for SNPs in intron 4 and exon 5. In conclusion, we show no association of selected SNPs in PDCD1 gene with AA in the Chinese Han population.
authors.affiliation: Department of Pharmacology, College of Pharmaceutical Science, Soochow University, Suzhou, People's Republic of China. mingzhijun@suda.edu.cn
authors.forename: Z J
authors.initials: ZJ
authors.lastname: Ming
authors.forename: H
authors.initials: H
authors.lastname: Hui
authors.forename: M
authors.initials: M
authors.lastname: Miao
authors.forename: Y H
authors.initials: YH
authors.lastname: Qiu
authors.forename: X G
authors.initials: XG
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D000741:Anemia, Aplastic / Q000208:ethnology / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002681:China / Q000453:epidemiology; D005091:Exons; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007438:Introns; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D061026:Programmed Cell Death 1 Receptor / Q000235:genetics*; D018570:Risk Assessment; D012307:Risk Factors; D055815:Young Adult
chemical_list: C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor