PTPN22 Gene Polymorphisms in Pediatric Systemic Lupus Erythematosus

被引:6
|
作者
Bahrami, Tayyeb [1 ]
Valilou, Saeed Farajzadeh [1 ,2 ]
Sadr, Maryam [3 ]
Soltani, Samaneh [1 ]
Salmaninejad, Arash [4 ]
Soltaninejad, Ehsan [5 ]
Yekaninejad, Mir Saeed [2 ]
Ziaee, Vahid [2 ]
Rezaei, Nima [6 ,7 ,8 ]
机构
[1] USERN, Med Genet Network MeGeNe, Tehran, Iran
[2] Univ Tehran Med Sci, Childrens Med Ctr, Tehran, Iran
[3] Univ Tehran Med Sci, Mol Immunol Res Ctr, Childrens Med Ctr, Tehran, Iran
[4] Mashhad Univ Med Sci, Mashhad, Razavi Khorasan, Iran
[5] Birjand Univ Med Sci, Birjand, Iran
[6] Univ Tehran Med Sci, Sch Med, Dept Immunol, Tehran, Iran
[7] Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Childrens Med Ctr, Tehran, Iran
[8] USERN, NIIMA, Tehran, Iran
关键词
pediatric systemic lupus erythematosus (PSLE); PTPN22; polymorphisms; genetic susceptibility; Iranian population; SINGLE NUCLEOTIDE POLYMORPHISMS; JUVENILE IDIOPATHIC ARTHRITIS; LYMPHOID TYROSINE PHOSPHATASE; RHEUMATOID-ARTHRITIS; R620W POLYMORPHISM; NONRECEPTOR; 22; ASSOCIATION; SUSCEPTIBILITY; AUTOIMMUNITY; VARIANT;
D O I
10.1080/15513815.2019.1630873
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
Objective: Pediatric systemic lupus erythematosus (PSLE) is a heterogeneous autoimmune disorder of unknown origin. PTPN22 gene polymorphisms have been associated with SLE in different populations. We investigated the associations of the rs2476601, rs1217414, rs33996649, rs1276457, and rs1310182 SNPs in the PTPN22 gene with PSLE. Materials and methods: 55 PSLE patients and 93 healthy controls were recruited. SNPs were genotyped by the real-time PCR allelic discrimination method. Results: We found that the PTPN22 polymorphisms rs1310182 A allele (p = 0.01, OR = 1.92 95% CI = 1.16-3.18), and rs1310182 AA genotype with (p < 0.001) and rs12760457 TT (p = 0.046) were associated with PSLE. No significant associations were found between other SNPs and PSLE. Conclusions: The PTPN22 rs1310182 A allele and rs1310182 AA genotype were associated with PSLE and may be a possible genetic marker for susceptibility to PSLE. However, further investigation would be required to elucidate the mechanistic role of this association.
引用
收藏
页码:13 / 20
页数:8
相关论文
共 50 条
  • [21] Association analysis of the PTPN22 gene in childhood-onset systemic lupus erythematosus and juvenile rheumatoid arthritis in Mexican population.
    Baca, V
    Valázquez-Cruz, R
    Espinoza-Rosales, F
    Ruíz-Lopez, K
    López-Lara, D
    Hernández-Trejo, A
    Morales-Marín, M
    Jiménez-Sánchez, G
    Orozco, L
    JOURNAL OF RHEUMATOLOGY, 2006, 33 (02) : 419 - 419
  • [22] PTPN22 Association in Systemic Lupus Erythematosus (SLE) with Respect to Individual Ancestry and Clinical Sub-Phenotypes
    Namjou, Bahram
    Kim-Howard, Xana
    Sun, Celi
    Adler, Adam
    Chung, Sharon A.
    Kaufman, Kenneth M.
    Kelly, Jennifer A.
    Glenn, Stuart B.
    Guthridge, Joel M.
    Scofield, Robert H.
    Kimberly, Robert P.
    Brown, Elizabeth E.
    Alarcon, Graciela S.
    Edberg, Jeffrey C.
    Kim, Jae-Hoon
    Choi, Jiyoung
    Ramsey-Goldman, Rosalind
    Petri, Michelle A.
    Reveille, John D.
    Vila, Luis M.
    Boackle, Susan A.
    Freedman, Barry I.
    Tsao, Betty P.
    Langefeld, Carl D.
    Vyse, Timothy J.
    Jacob, Chaim O.
    Pons-Estel, Bernardo
    Niewold, Timothy B.
    Sivils, Kathy L. Moser
    Merrill, Joan T.
    Anaya, Juan-Manuel
    Gilkeson, Gary S.
    Gaffney, Patrick M.
    Bae, Sang-Cheol
    Alarcon-Riquelme, Marta E.
    Harley, John B.
    Criswell, Lindsey A.
    James, Judith A.
    Nath, Swapan K.
    PLOS ONE, 2013, 8 (08):
  • [23] PTPN22 polymorphisms, but not R620W, were associated with the genetic susceptibility of systemic lupus erythematosus and rheumatoid arthritis in a Chinese Han population
    Tang, Liang
    Wang, Yan
    Zheng, Shui
    Bao, Meihua
    Zhang, Qingsong
    Li, Jianming
    HUMAN IMMUNOLOGY, 2016, 77 (08) : 692 - 698
  • [24] Autoimmune thyroid disease and PTPN22 gene polymorphisms of the correlation analysis
    Shen, Guo-Shuang
    Zhao, Jiu-Da
    Liu, Zhen
    Cheng, Shan-Shan
    Wu, Qiong
    INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE, 2016, 9 (07): : 14754 - 14757
  • [25] Evaluation of the genetic association of the PTPN22 R620W polymorphism in familial and sporadic systemic lupus erythematosus
    Kaufman, Kenneth M.
    Kelly, Jennifer A.
    Herring, Billy J.
    Adler, Adam J.
    Glenn, Stuart B.
    Namjou, Bahram
    Frank, Summer G.
    Dawson, Sarah L.
    Bruner, Gail R.
    James, Judith A.
    Harley, John B.
    ARTHRITIS AND RHEUMATISM, 2006, 54 (08): : 2533 - 2540
  • [26] Single Nucleotide Polymorphisms of PTPN22 Gene in Iranian Patients with Ulcerative Colitis
    Sadr, Maryam
    Moazzami, Bobak
    Soleimanifar, Narjes
    Elhamian, Nazanin
    Rezaei, Arezoo
    Daryani, Nasser Ebrahimi
    Rezaei, Nima
    FETAL AND PEDIATRIC PATHOLOGY, 2019, 38 (01) : 8 - 13
  • [27] Altered PTPN22 and IL10 mRNA Expression Is Associated with Disease Activity and Renal Involvement in Systemic Lupus Erythematosus
    Valeria Roman-Fernandez, Ilce
    Rene Machado-Contreras, Jesus
    Francisco Munoz-Valle, Jose
    Cruz, Alvaro
    Celeste Salazar-Camarena, Diana
    Azucena Palafox-Sanchez, Claudia
    DIAGNOSTICS, 2022, 12 (11)
  • [28] The PTPN22 C1858T variant as a risk factor for rheumatoid arthritis and systemic lupus erythematosus but not for systemic sclerosis in the Colombian population
    Ramirez, M.
    Quintana, G.
    Diaz-Gallo, L. -M.
    Caminos, J.
    Garces, M.
    Cepeda, L.
    Rondon, F.
    Restrepo, J. F.
    Egea, E.
    Garavito, G.
    Robledo, G.
    Martin, J.
    Iglesias-Gamarra, A.
    CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, 2012, 30 (04) : 520 - 524
  • [29] PTPN22 1858C&gt;T polymorphism and susceptibility to systemic lupus erythematosus: a meta-analysis update
    de Lima, Suelen Cristina
    Adelino, Jose Eduardo
    Crovella, Sergio
    Silva, Jaqueline de Azevedo
    Sandrin-Garcia, Paula
    AUTOIMMUNITY, 2017, 50 (07) : 428 - 434
  • [30] The association between the PTPN22 C1858T polymorphism and systemic lupus erythematosus: a meta-analysis update
    Lea, W. W.
    Lee, Y. H.
    LUPUS, 2011, 20 (01) : 51 - 57