PTPN22 gene polymorphism in Egyptian females with non-segmental vitiligo

Elmongy, Naglaa Nabil; Khalil, Reham E. Abu

doi:10.1007/s00580-012-1508-4

Cited by 4 publications

(3 citation statements)

References 21 publications

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“…There is evidence that the PTPN22 +1858T allele constitutes a generalized risk for vitiligo in a European Caucasian (Romanian) population, highlighting the importance of a genetically mediated autoimmune mechanism in the pathogenesis of vitiligo ( 23 ). By contrast, studies of the segmental form of the disease in Egyptian females failed to find an association with the presence of this polymorphism ( 35 ). Some of these positive findings have been confirmed by a meta-analysis performed on European and Asian populations by Song et al ( 36 ) in 2013.…”

Section: Discussionmentioning

confidence: 82%

Protein tyrosine phosphatase PTPN22 +1858C/T polymorphism is associated with active vitiligo

García-Meléndez

Salinas-Santander

Sánchez‐Domínguez

et al. 2014

Experimental and Therapeutic Medicine

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Vitiligo is characterized by a skin depigmentation disorder resulting from an autoimmune response targeting melanocytes. Within the genetic factors involved in the development of the vitiligo immune response, various genes in the major histocompatibility complex (MHC) and non-MHC loci have been considered to be risk factors. The PTPN22 gene encodes for a lymphoid protein tyrosine phosphatase, a regulator of the activation and development of T-cells. The +1858C/T polymorphism has been associated to autoimmune disease susceptibility in different populations and could be implicated in the onset of vitiligo. To assess the possible association between the presence of PTPN22 +1858C/T and vitiligo, 187 patients with vitiligo and 223 control subjects were analyzed in the study. Genomic DNA was isolated using the salting-out method and samples were subjected to polymerase chain reaction-restriction fragment length polymorphism in order to detect the PTPN22 +1858C/T polymorphism. Causal associations were determined by χ2 test and their respective odds ratio (OR) was assessed in a 2×2 contingency table. The results showed an association between active vitiligo and the allele T load [P=0.0418; OR, 2.5706; 95% confidence interval (CI), 1.0040–6.5816], and active vitiligo-CT genotype (P=0.0389, OR, 2.6548; 95% CI, 1.0191–6.9156). In conclusion, the present data indicates a possible association between the PTPN22 +1858C/T genotype and a significant susceptibility of developing an active form of vitiligo.

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Section: Discussionmentioning

confidence: 82%

Protein tyrosine phosphatase PTPN22 +1858C/T polymorphism is associated with active vitiligo

García-Meléndez

Salinas-Santander

Sánchez‐Domínguez

et al. 2014

Experimental and Therapeutic Medicine

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“…40 In contrast, no significant association of PTPN22 C1858T polymorphism with susceptibility to generalized vitiligo was found in Indian Gujarat population, Jordanian, Egyptian female, and Turkish population. 39,[47][48][49] Available literature shows that a variant of PTPN22 C1858T is responsible for increased risk of vitiligo in white patients; however, among nonwhite/Asians, inconsistency exits and even the 2 populations of same country differ in association with PTPN22 C1858T with vitiligo indicating the role of ethnicity. The heterozygous CT genotype, of the PTPN22 C1858T, has a strong association with nonsegmental vitiligo in South Indian Tamils, whereas there is no association of this polymorphism in Indian Gujarat population.…”

Section: Discussionmentioning

confidence: 99%

Association of Functional Polymorphism in Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) Gene with Vitiligo

et al. 2020

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The protein tyrosine phosphatase nonreceptor 22 (PTPN22) is associated with susceptibility to autoimmune diseases. The functional polymorphism in PTPN22 at 1857 is a strong risk factor for vitiligo susceptibility in Europeans; however, controversy exits in other populations. Present study was aimed to determine whether the PTPN22 C1857T polymorphism confers susceptibility to vitiligo in Saudi Arabians. Genomic DNA was extracted and amplified using tetra primer amplification-refractory mutation system polymerase chain reaction (ARMS-PCR) method. The frequencies of allele T and genotype CT of PTPN22 C1858T polymorphism were significantly higher, whereas those of allele C and genotype CC were lower in patients as compared with controls ( P < 0.0001). The genotype TT was absent in both the patients and controls. It is concluded that PTPN22 C1858T polymorphism is strongly associated with vitiligo susceptibility. However, additional studies are warranted using large number of samples from different ethnicities and geographical areas.

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“…A meta-analysis utilizing data from different ethnicities shows an association of PTPN22 C1858T with vitiligo in European but not in Asian population [28]. In contrast, no significant association of PTPN22 C1858T polymorphism with susceptibility to generalized vitiligo was found in Indian Gujarat population, Jordanian, Egyptian female, and Turkish population [27,[32][33][34]. Available literature shows that the variant of PTPN22 C1858T is responsible for increased risk of vitiligo in Caucasian patients; however, among non-Caucasians/Asians, inconsistency exits, and even the two populations of same country differ in association of PTPN22 C1858T with vitiligo indicating the role of ethnicity.…”

Section: Vitiligomentioning

confidence: 99%

The Protein Tyrosine Phosphatase Non-Receptor Type 22 (PTPN22) Gene Polymorphism and Susceptibility to Autoimmune Diseases

Huraib¹,

Harthi²,

Arfin³

et al. 2020

The Recent Topics in Genetic Polymorphisms

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The protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene located on chromosomes 1p 13.3-13 encodes a lymphoid-specific tyrosine phosphatase (Lyp) which is involved in autoimmunity by preventing spontaneous T-cell activation and T-cell development and inactivating T-cell receptor-associated kinases and their substrates. Several single nucleotide polymorphisms (SNPs) have been identified in PTPN22, but only one PTPN22 C1858T has been intensively studied in relation to autoimmune diseases. The PTPN22 C1858T functional polymorphism is a strong non-HLA risk factor for several autoimmune diseases and considered to play an important role in etiology of diseases due to significant production of autoantibodies. However, available literature on PTPN22 C1858T polymorphism and autoimmune diseases shows inconsistencies and ethnic variations. Therefore, further genetic studies on patients suffering from various autoimmune diseases from different ethnicities and PTPN22 gene polymorphisms are expected to help better understand the pathogenesis and will contribute to the development of more targeted therapies and biomarkers.

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PTPN22 gene polymorphism in Egyptian females with non-segmental vitiligo

Cited by 4 publications

References 21 publications

Protein tyrosine phosphatase PTPN22 +1858C/T polymorphism is associated with active vitiligo

Protein tyrosine phosphatase PTPN22 +1858C/T polymorphism is associated with active vitiligo

Association of Functional Polymorphism in Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) Gene with Vitiligo

The Protein Tyrosine Phosphatase Non-Receptor Type 22 (PTPN22) Gene Polymorphism and Susceptibility to Autoimmune Diseases

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