Polymorphisms in PDCD1 gene are not associated with aplastic anemia in Chinese Han population
Polymorphisms in PDCD1 gene are not associated with aplastic anemia in Chinese Han population
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DOI：
10.1007/s00296-011-2127-0
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发表时间：
2012-10-01
影响因子：
4
通讯作者：
Zhang, X. G.
中科院分区：
文献类型：
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作者：
Ming, Z. J.;Hui, H.;Zhang, X. G.
程序性细胞死亡1（PD-1）最近被报道在几种自身免疫性疾病中具有遗传关联。本研究旨在探讨PD-1基因多态性与中国汉族人群再生障碍性贫血（AA）的关系。在一项病例对照关联研究中，采用聚合酶链反应-限制性片段长度多态性分析方法，对166例AA患者和264例健康对照进行了PD-1.3 G/A、PD-1.5 C/T和PD-1.9 T/C三种单核苷酸多态性（SNP）基因分型。所有基因型在患者和对照组中的分布均符合Hardy-Weinberg平衡。分析基因型和等位基因与AA的相关性。内含子4和外显子5的SNP在基因型和等位基因频率上没有差异。总之，我们发现PDCD 1基因的SNPs与中国汉族人群AA无关联。
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.