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Int. J. Mol. Sci. 2015, 16(5), 9794-9803; doi:10.3390/ijms16059794

Association between PDCD1 Gene Polymorphisms and Risk of Systemic Lupus Erythematosus in Three Main Ethnic Groups of the Malaysian Population

1
Department of Biomedical Science, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia
2
Division of Rheumatology, Department of Medicine, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia
3
Department of Pathology, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia
These authors contributed equally to this work.
*
Author to whom correspondence should be addressed.
Academic Editors: Chak-Sing Lau and Vera Sau-Fong Chan
Received: 10 February 2015 / Revised: 20 April 2015 / Accepted: 21 April 2015 / Published: 29 April 2015
View Full-Text   |   Download PDF [677 KB, uploaded 29 April 2015]

Abstract

The programmed cell death 1 (PDCD1) gene encodes for the PD-1 (programmed death 1) molecule, which negatively regulates self-reactive T- and B-cells in the maintenance of peripheral tolerance. A previous report had shown the development of lupus-like phenotypes in PD-1-deficient C57BL/6 mice, was suggestive to the role of PDCD1 in predisposing to systemic lupus erythematosus (SLE). Hence, we aimed to investigate the association between PDCD1 and SLE susceptibility in the Malaysian population. A TaqMan-based real-time PCR was employed to screen for PD1.1, PD1.3, PD1.5 and PD1.6 in both SLE and healthy control groups of 200 samples each. The observed frequency for PD1.5C/C genotype was significantly higher in Indian SLE patients and Malay controls (p < 0.01). On the other hand, the PD1.5C/T genotype might predispose the Malays to SLE, but confer a protective effect among the Indians (p < 0.01). The PD1.1, PD1.3 and PD1.6 were, however, not correlated to genetic predisposition of SLE in our Malaysian population. In conclusion, PD1.5 variant was significantly associated to SLE susceptibility in our Malaysian cohort. Our failure in replicating the association between other investigated PDCD1 variants and risk of getting SLE might due to ethnic and geographic variations in the distribution of these genetic variants. View Full-Text
Keywords: PD-1; SLE susceptibility; Malaysia PD-1; SLE susceptibility; Malaysia
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Chua, K.H.; Lian, L.H.; Sim, X.J.; Cheah, T.E.; Lau, T.P. Association between PDCD1 Gene Polymorphisms and Risk of Systemic Lupus Erythematosus in Three Main Ethnic Groups of the Malaysian Population. Int. J. Mol. Sci. 2015, 16, 9794-9803.

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