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.

Keywords::

• Programmed cell death 1
• aplastic anemia
• single nucleotide polymorphism

Acknowledgement

The project was supported by the Chinese National High Technology Research and Development Program 863 (2008AA02Z436), a priority academic program development of Jiangsu higher education institutions.

Potential conflict of interest:

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Notice of Correction

The version of this article published online ahead of print on 4th March 2013 contained an error in authorship. The author list “Zi-Xia Wu, Jin Wang & Zhenghong Qin” should have read “Zixia Wu, Miao Miao, Yuhua Qiu, Zhenghong Qin, Jin Wang, Yiguo Jiang, Zhijun Ming & Xueguang Zhang”. All added authors comply with the strict criteria detailed in the ICMJE guidelines and all authors have agreed to the additional author names.

The error has been corrected for this version.