A Promoter Region Polymorphism in PDCD-1 Gene Is Associated with Risk of Rheumatoid Arthritis in the Han Chinese Population of Southeastern China
Objective. Programmed cell death 1 (PD-1) induces negative signals to T cells during interaction with its ligands and is therefore a candidate gene in the development of autoimmune diseases such as rheumatoid arthritis (RA). Herein, we investigate the association of PDCD-1 polymorphisms with the ris...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | International Journal of Genomics |
| Online Access: | http://dx.doi.org/10.1155/2014/247637 |
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| author | CuiPing Liu JueAn Jiang Li Gao XiaoHan Hu FengMing Wang Yu Shen GeHua Yu ZuoTao Zhao XueGuang Zhang |
| author_facet | CuiPing Liu JueAn Jiang Li Gao XiaoHan Hu FengMing Wang Yu Shen GeHua Yu ZuoTao Zhao XueGuang Zhang |
| author_sort | CuiPing Liu |
| collection | DOAJ |
| description | Objective. Programmed cell death 1 (PD-1) induces negative signals to T cells during interaction with its ligands and is therefore a candidate gene in the development of autoimmune diseases such as rheumatoid arthritis (RA). Herein, we investigate the association of PDCD-1 polymorphisms with the risk of RA among Chinese patients and healthy controls. Methods. Using the PCR-direct sequencing analysis, 4 PDCD-1 SNPs (rs36084323, rs11568821, rs2227982, and rs2227981) were genotyped in 320 RA patients and 309 matched healthy controls. Expression of PD-1 was determined in peripheral blood lymphocytes by flow cytometry and quantitative real-time reverse transcriptase polymerase chain reaction. Results. We observed that the GG genotype of rs36084323 was associated with a increased risk for developing RA (OR 1.70, 95% 1.11–2.61, P=0.049). Patients carrying G/G genotype displayed an increased mRNA level of PD-1 (P=0.04) compared with A/A genotype and healthy controls. Meanwhile, patients homozygous for rs36084323 had induced basal PD-1 expression on activated CD4+ T cells. Conclusion. The PDCD-1 polymorphism rs36084323 was significantly associated with RA risk in Han Chinese population. This SNP, which effectively influenced the expression of PD-1, may be a biomarker of early diagnosis of RA and a suitable indicator of utilizing PD-1 inhibitor for treatment of RA. |
| format | Article |
| id | doaj-art-65ca678f40834458b08db94a6a3b7cf5 |
| institution | OA Journals |
| issn | 2314-436X 2314-4378 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Genomics |
| spelling | doaj-art-65ca678f40834458b08db94a6a3b7cf52025-08-20T02:23:48ZengWileyInternational Journal of Genomics2314-436X2314-43782014-01-01201410.1155/2014/247637247637A Promoter Region Polymorphism in PDCD-1 Gene Is Associated with Risk of Rheumatoid Arthritis in the Han Chinese Population of Southeastern ChinaCuiPing Liu0JueAn Jiang1Li Gao2XiaoHan Hu3FengMing Wang4Yu Shen5GeHua Yu6ZuoTao Zhao7XueGuang Zhang8Jiangsu Institute of Clinical Immunology, The First Affiliated Hospital of Soochow University, Suzhou 215006, ChinaJiangsu Institute of Clinical Immunology, The First Affiliated Hospital of Soochow University, Suzhou 215006, ChinaMedical Biotechnology Institute, Soochow University, Suzhou 215006, ChinaMedical Biotechnology Institute, Soochow University, Suzhou 215006, ChinaTesting Center, Center for Disease Prevention and Control, Changzhou 213000, ChinaJiangsu Institute of Clinical Immunology, The First Affiliated Hospital of Soochow University, Suzhou 215006, ChinaMedical Biotechnology Institute, Soochow University, Suzhou 215006, ChinaDepartment of Dermatology, First Hospital, Peking University, Beijing 100034, ChinaJiangsu Institute of Clinical Immunology, The First Affiliated Hospital of Soochow University, Suzhou 215006, ChinaObjective. Programmed cell death 1 (PD-1) induces negative signals to T cells during interaction with its ligands and is therefore a candidate gene in the development of autoimmune diseases such as rheumatoid arthritis (RA). Herein, we investigate the association of PDCD-1 polymorphisms with the risk of RA among Chinese patients and healthy controls. Methods. Using the PCR-direct sequencing analysis, 4 PDCD-1 SNPs (rs36084323, rs11568821, rs2227982, and rs2227981) were genotyped in 320 RA patients and 309 matched healthy controls. Expression of PD-1 was determined in peripheral blood lymphocytes by flow cytometry and quantitative real-time reverse transcriptase polymerase chain reaction. Results. We observed that the GG genotype of rs36084323 was associated with a increased risk for developing RA (OR 1.70, 95% 1.11–2.61, P=0.049). Patients carrying G/G genotype displayed an increased mRNA level of PD-1 (P=0.04) compared with A/A genotype and healthy controls. Meanwhile, patients homozygous for rs36084323 had induced basal PD-1 expression on activated CD4+ T cells. Conclusion. The PDCD-1 polymorphism rs36084323 was significantly associated with RA risk in Han Chinese population. This SNP, which effectively influenced the expression of PD-1, may be a biomarker of early diagnosis of RA and a suitable indicator of utilizing PD-1 inhibitor for treatment of RA.http://dx.doi.org/10.1155/2014/247637 |
| spellingShingle | CuiPing Liu JueAn Jiang Li Gao XiaoHan Hu FengMing Wang Yu Shen GeHua Yu ZuoTao Zhao XueGuang Zhang A Promoter Region Polymorphism in PDCD-1 Gene Is Associated with Risk of Rheumatoid Arthritis in the Han Chinese Population of Southeastern China International Journal of Genomics |
| title | A Promoter Region Polymorphism in PDCD-1 Gene Is Associated with Risk of Rheumatoid Arthritis in the Han Chinese Population of Southeastern China |
| title_full | A Promoter Region Polymorphism in PDCD-1 Gene Is Associated with Risk of Rheumatoid Arthritis in the Han Chinese Population of Southeastern China |
| title_fullStr | A Promoter Region Polymorphism in PDCD-1 Gene Is Associated with Risk of Rheumatoid Arthritis in the Han Chinese Population of Southeastern China |
| title_full_unstemmed | A Promoter Region Polymorphism in PDCD-1 Gene Is Associated with Risk of Rheumatoid Arthritis in the Han Chinese Population of Southeastern China |
| title_short | A Promoter Region Polymorphism in PDCD-1 Gene Is Associated with Risk of Rheumatoid Arthritis in the Han Chinese Population of Southeastern China |
| title_sort | promoter region polymorphism in pdcd 1 gene is associated with risk of rheumatoid arthritis in the han chinese population of southeastern china |
| url | http://dx.doi.org/10.1155/2014/247637 |
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