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Polymorphisms in PDCD1 gene are not associated with aplastic anemia in Chinese Han population

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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.

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Abbreviations

PD-1:

Programmed cell death-1

SNP:

Single-nucleotide polymorphism

AA:

Aplastic anemia

OR:

Odds ratio

CI:

Confidence interval

RA:

Rheumatoid arthritis

SLE:

Systemic lupus erythematosus

AS:

Ankylosing spondylitis

MS:

Multiple sclerosis

PCR:

Polymerase chain reaction

RFLP:

Restriction fragment length polymorphism

RE:

Restriction enzymes

ITIM:

Immunoreceptor tyrosine-based inhibitory motif

ITSM:

Immunoreceptor tyrosine-based swith motif

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Acknowledgments

This work was supported by the grant from the National Important Science Foundation of Science and Technology Ministry of China (2009ZX09103-705), Medical Development Foundation of Soochow University (EE132030), and the Doctoral Program Fund of Soochow University (No. 13132743). We thank Dr. Gordon Leitch for editing the manuscript.

Conflicts of interest

There are no conflicts of interest.

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Authors and Affiliations

  1. Department of Pharmacology, College of Pharmaceutical Science, Soochow University, Suzhou, People’s Republic of China

    Z. J. Ming & H. Hui

  2. Department of Hematology, First Affiliated Hospital of Soochow University, Suzhou, People’s Republic of China

    M. Miao

  3. Medical Biotechnology Institute, Soochow University, Suzhou, People’s Republic of China

    Y. H. Qiu & X. G. Zhang

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  1. Z. J. Ming
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  2. H. Hui
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  3. M. Miao
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  4. Y. H. Qiu
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  5. X. G. Zhang
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Corresponding authors

Correspondence to Y. H. Qiu or X. G. Zhang.

Additional information

Z. J. Ming and H. Hui contributed equally to this paper.

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Ming, Z.J., Hui, H., Miao, M. et al. Polymorphisms in PDCD1 gene are not associated with aplastic anemia in Chinese Han population. Rheumatol Int 32, 3107–3112 (2012). https://doi.org/10.1007/s00296-011-2127-0

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  • DOI: https://doi.org/10.1007/s00296-011-2127-0

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