PTPN22 1858 C/T Exon Polymorphism is not Associated with Graves' Disease in Kashmiri population

• Published in: Indian journal of endocrinology and metabolism Vol. 22; no. 4; pp. 457 - 460
• Main Authors: Shehjar, Faheem, Dil-Afroze, Misgar, Riaz A, Malik, Sajad A, Laway, Bashir A
• Format: Journal Article
• Language: English
• Published: India Medknow Publications and Media Pvt. Ltd 01-07-2018; Medknow Publications & Media Pvt. Ltd; Medknow Publications & Media Pvt Ltd
• Subjects: Autoimmune diseases; Care and treatment; Deoxyribonucleic acid; Development and progression; Diabetes; Disease; DNA; Enzymes; Genetic aspects; Graves' disease; Health aspects; Kashmiri (South Asian people); Laboratories; Lupus; Original; Patients; Phosphatase; Proteins; Rheumatoid arthritis; Single nucleotide polymorphisms; Statistical analysis; Studies; Thyroid gland; Mumbai India; United Kingdom > UK; United States > US; Massachusetts; California; Spain; India; restriction fragment length polymorphism; single-nucleotide polymorphism; Graves' disease; protein tyrosine phosphatase nonreceptor 22
• ISSN: 2230-8210; 2230-9500
• DOI: 10.4103/ijem.IJEM_105_18

Graves' disease (GD) is a multifactorial autoimmune disease with contribution from both genetic and epigenetic factors in its causation. Association of genetic factors and GD has been extensively studied. Gene "protein tyrosine phosphatase nonreceptor 22" (
) is an important immunoregulatory gene preventing hyper responsiveness of T cells by negatively regulating their signal transduction. Association of single-nucleotide polymorphism (SNP) 1858 C/T within
with some autoimmune diseases has been described.
We aimed to analyze whether 1858 C/T SNP of
gene has any association with GD in Kashmiri population. Polymerase chain reaction-restriction fragment length polymorphism was performed for genotyping 1858 C/T SNP in 135 patients with GD and 150 age- and gender-matched healthy controls.
Among the patients with GD, the frequencies of
1858 CC, CT, and TT genotypes were 97.7, 2.2, and 0%, respectively, whereas in healthy controls the frequencies of CC, CT genotypes were 100 and 0%, respectively. No significant association was found between
1858 C/T SNP and patients with GD.
GD is not associated with
1858 C/T SNP in Kashmiri population. Furthermore, 1858 C/T SNP in
gene could be a part of variation in different ethnic populations across the globe.