Ann Dermatol.  2014 Feb;26(1):88-91. 10.5021/ad.2014.26.1.88.

Lack of Association between PTPN22 Gene +1858 C>T Polymorphism and Susceptibility to Generalized Vitiligo in a Turkish Population

• Akbas H
• Dertlioglu SB
• Dilmec F
• Atay AE

• KMID: 2265702
• DOI: http://doi.org/10.5021/ad.2014.26.1.88

Abstract

BACKGROUND
Vitiligo is an autoimmune polygenic disorder characterized by loss of pigmentation due to melanocyte destruction. The PTPN22 gene +1858 C>T single nucleotide polymorphism (rs2476601) has been shown to be associated with various autoimmune disorders.
OBJECTIVE
The aim of this study was to investigate whether the PTPN22 gene +1858 C>T single nucleotide polymorphism is associated with susceptibility to generalized vitiligo in a Turkish population.
METHODS
One hundred and seven patients with generalized vitiligo, and one hundred and twelve gender-, age-, and ethnic-matched controls were enrolled in the study. Genotyping was done by polymerase chain reaction-restriction fragment length polymorphism.
RESULTS
The PTPN22 +1858 C>T genotype and allele frequencies of the generalized vitiligo patients did not differ significantly from those of healthy controls.
CONCLUSION
We found no association between the PTPN22 +1858 C>T gene polymorphism and vitiligo susceptibility in Turkish generalized-vitiligo patients.

Keyword

Polymerase chain reaction-restriction fragment length polymorphism; PTPN22 gene; Vitiligo

MeSH Terms

Gene Frequency
Genotype
Humans
Melanocytes
Pigmentation
Polymorphism, Single Nucleotide
Vitiligo*

Figure

• 

  Fig. 1 Polymerase chain reaction-restriction fragment length polymorphism analysis of the PTPN22 gene 1858 C/T polymorphism obtained by 2% agarose gel electrophoresis. Lane M shows 100~1,500 bp DNA ladder (Bio Basic Inc.). Lanes 1, 2 and 3 show subjects with homozygous alleles (C/C) with one intact band. Lanes 4, 5 and 6 show subjects with heterozygous alleles (C/T) showing digestion of the 400 bp product into 238 bp and 162 bp bands. No subject with homozygous allele (T/T) was observed.

Reference

1. Spritz RA. The genetics of generalized vitiligo and associated autoimmune diseases. Pigment Cell Res. 2007; 20:271–278.

2. Pehlivan S, Ozkinay F, Alper S, Onay H, Yuksel E, Pehlivan M, et al. Association between IL4 (-590), ACE (I)/(D), CCR5 (Delta32), CTLA4 (+49) and IL1-RN (VNTR in intron 2) gene polymorphisms and vitiligo. Eur J Dermatol. 2009; 19:126–128.

3. Zamani M, Tabatabaiefar MA, Mosayyebi S, Mashaghi A, Mansouri P. Possible association of the CD4 gene polymorphism with vitiligo in an Iranian population. Clin Exp Dermatol. 2010; 35:521–524.

4. Smyth D, Cooper JD, Collins JE, Heward JM, Franklyn JA, Howson JM, et al. Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus. Diabetes. 2004; 53:3020–3023.

5. Hill RJ, Zozulya S, Lu YL, Ward K, Gishizky M, Jallal B. The lymphoid protein tyrosine phosphatase Lyp interacts with the adaptor molecule Grb2 and functions as a negative regulator of T-cell activation. Exp Hematol. 2002; 30:237–244.

6. Cloutier JF, Veillette A. Cooperative inhibition of T-cell antigen receptor signaling by a complex between a kinase and a phosphatase. J Exp Med. 1999; 189:111–121.

7. Cantón I, Akhtar S, Gavalas NG, Gawkrodger DJ, Blomhoff A, Watson PF, et al. A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo. Genes Immun. 2005; 6:584–587.

8. Laberge GS, Birlea SA, Fain PR, Spritz RA. The PTPN22-1858C>T (R620W) functional polymorphism is associated with generalized vitiligo in the Romanian population. Pigment Cell Melanoma Res. 2008; 21:206–208.

9. LaBerge GS, Bennett DC, Fain PR, Spritz RA. PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not. J Invest Dermatol. 2008; 128:1757–1762.

10. Laddha NC, Dwivedi M, Shajil EM, Prajapati H, Marfatia YS, Begum R. Association of PTPN22 1858C/T polymorphism with vitiligo susceptibility in Gujarat population. J Dermatol Sci. 2008; 49:260–262.

11. Alkhateeb A, Qarqaz F, Al-Sabah J, Al Rashaideh T. Clinical characteristics and PTPN22 1858C/T variant analysis in Jordanian Arab vitiligo patients. Mol Diagn Ther. 2010; 14:179–184.

12. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988; 16:1215.

13. Majorczyk E, Jasek M, PXMLLink_XYZoski R, Wagner M, Kosior A, Pawlik A, et al. Association of PTPN22 single nucleotide polymorphism with rheumatoid arthritis but not with allergic asthma. Eur J Hum Genet. 2007; 15:1043–1048.

14. Bottini N, Musumeci L, Alonso A, Rahmouni S, Nika K, Rostamkhani M, et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet. 2004; 36:337–338.

15. Peng H, Zhou M, Xu WD, Xu K, Zhai Y, Li R, et al. Association of PTPN22 C1858T polymorphism and type 1 diabetes: a meta-analysis. Immunol Invest. 2012; 41:484–496.

16. Luo L, Cai B, Liu F, Hu X, Wang L. Association of Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) C1858T gene polymorphism with susceptibility to autoimmune thyroid diseases: a meta-analysis. Endocr J. 2012; 59:439–445.

17. Eliopoulos E, Zervou MI, Andreou A, Dimopoulou K, Cosmidis N, Voloudakis G, et al. Association of the PTPN22 R620W polymorphism with increased risk for SLE in the genetically homogeneous population of Crete. Lupus. 2011; 20:501–506.