Influence of protein tyrosine phosphatase gene (PTPN22) polymorphisms on rheumatic heart disease susceptibility in North Indian population

被引：6
作者：
Gupta, U. [1 ,2 ]
Mir, S. S. [2 ]
Chauhan, T. [1 ]
Garg, N. [3 ]
Agarwal, S. K. [4 ]
Pande, S. [4 ]
Mittal, B. [1 ]
机构：
[1] Sanjay Gandhi Postgrad Inst Med Sci, Dept Genet, Lucknow 226014, Uttar Pradesh, India
[2] Integral Univ, Dept Biosci, Lucknow, Uttar Pradesh, India
[3] Sanjay Gandhi Postgrad Inst Med Sci, Dept Cardiol, Lucknow 226014, Uttar Pradesh, India
[4] Sanjay Gandhi Postgrad Inst Med Sci, Dept Cardiovasc & Thorac Surg, Lucknow 226014, Uttar Pradesh, India
来源：
TISSUE ANTIGENS | 2014年 / 84卷 / 05期
关键词：
association studies; genetic polymorphism; PTPN22; gene; RHD; SINGLE-NUCLEOTIDE POLYMORPHISM; INFLAMMATORY-BOWEL-DISEASE; MULTIPLE-SCLEROSIS; AUTOIMMUNITY GENE; ASSOCIATION; ARTHRITIS; ARTERITIS;
D O I：
10.1111/tan.12440
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
This study was aimed to assess the association of Protein tyrosine phosphatase non-receptor22 (PTPN22) gene single nucleotide polymorphisms (SNPs) with rheumatic heart disease (RHD) susceptibility in 400 RHD patients and 300 controls. The PTPN22 polymorphisms (rs2476601, rs1217406 and rs3789609) were genotyped using Taqman probes (Applied Biosystems, Foster City, CA). Statistical analysis was performed by SPSS and haplotype analysis by SNPSTAT. The frequencies of variant alleles were not different between controls and cases (rs2476601: 2.00% & 1.05%; rs1217406: 36.33% & 34.75%; and rs3789609: 38.17% & 40.00%, respectively]. However, G (rs2476601) A (rs1217406) T (rs3789609) haplotype turned out to be a low risk factor for RHD (P=0.0042) predisposition in females and adult patients. This study suggests PTPN22 haplotype may modulate the risk to RHD in North Indians.
引用
收藏
页码：492 / 496
页数：5
相关论文
共 29 条
  • [1] No association of PTPN22 R620 W gene polymorphism with rheumatic heart disease and systemic lupus erythematosus
    Aksoy, Rahime
    Duman, Turker
    Keskin, Onur
    Duzgun, Nursen
    [J]. MOLECULAR BIOLOGY REPORTS, 2011, 38 (08) : 5393 - 5396
  • [2] The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosis
    Begovich, AB
    Caillier, SJ
    Alexander, HC
    Penko, JM
    Hauser, SL
    Barcellos, LF
    Oksenberg, JR
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (01) : 184 - 187
  • [3] Chopra P, 1992, J Heart Valve Dis, V1, P92
  • [4] Diaz-Gallo LM, GENOME MED, V4, P13
  • [5] Gonzalez-Gay MA, 2005, J RHEUMATOL, V32, P1510
  • [6] PTPN22: Setting thresholds for autoimmunity
    Gregersen, Peter K.
    Lee, Hye-Soon
    Batliwalla, Franak
    Begovich, Ann B.
    [J]. SEMINARS IN IMMUNOLOGY, 2006, 18 (04) : 214 - 223
  • [7] Guilherme Luiza, 2005, Expert Reviews in Molecular Medicine, V7, P1, DOI 10.1017/S146239940501015X
  • [8] Different gene loci within the HLA-DR and TNF regions are independently associated with susceptibility and severity in Spanish rheumatoid arthritis patients
    Hajeer, AH
    Dababneh, A
    Makki, RF
    Thomson, W
    Poulton, K
    González-Gay, MA
    García-Porrúa, C
    Mattey, DL
    Ollier, WER
    [J]. TISSUE ANTIGENS, 2000, 55 (04): : 319 - 325
  • [9] Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population -: Further support that PTPN22 is an autoimmunity gene
    Hinks, A
    Barton, A
    John, S
    Bruce, I
    Hawkins, C
    Griffiths, CEM
    Donn, R
    Thomson, W
    Silman, A
    Worthington, J
    [J]. ARTHRITIS AND RHEUMATISM, 2005, 52 (06): : 1694 - 1699
  • [10] No evidence for association between 1858 C/T single-nucleotide polymorphism of PTPN22 gene and primary Sjogren's syndrome
    Ittah, M
    Gottenberg, JE
    Proust, A
    Hachulla, E
    Puechal, X
    Loiseau, P
    Mariette, X
    Miceli-Richard, C
    [J]. GENES AND IMMUNITY, 2005, 6 (05) : 457 - 458
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