[Association of polymorphism of protein tyrosine phosphatase nonreceptor-22 gene with AITD].
OBJECTIVE
To evaluate the association of PTPN22 gene polymorphism with autoimmune thyroid disease (AITD) in Chinese people and to analyze the relationship between SNP of CTLA-4 gene and SNP of PTPN22 gene.


METHODS
149 patients with Graves' disease (GD) and 82 patients with Hashimoto's thyroiditis (HT) as well as 131 healthy people as controls were investigated. PTPN22 gene polymorphism +1858 C>T and CTLA-4 gene polymorphism 49A>G were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). PTPN22 gene polymorphism -1123G>C at promoter was genotyped by single allele-specific primer polymerase chain reaction (SASP-PCR).


RESULTS
(1) +1858C>T for PTPN22 gene was not polymorphic enough in patients and controls. (2) Statistic differences in alleles and genotype frequency of -1123G>C were observed between GD patients and controls (P=0.040, 0.013; OR=1.44, 2.33, respectively). (3) Differences in alleles and genotype frequency of 49A>G for CTLA-4 gene were observed in patients and controls. (4) Individuals with PTPN22 CC genotype and CTILA-4 G alleles had an increased risk of developing GD (OR=3.31, 95%CI: 2.69-8.89) compared with those with PTPN22 G alleles and CTLA-4 AA genotype.


CONCLUSIONS
-1123 G>C SNP of PTPN22 gene is associated with GD. There is coordination between PTPN22 CC genotype and CTLA-4 G alleles in the development of GD.
Yu
Zhi-Yun
ZY
Department of Endocrinology, First Affiliated Hospital, Medical College of Xi'an Jiaotong University, Xi'an 710061, China. yuzhyun@hotmail.com
Zhang
Jin-An
JA
Maier
Ha-Ba
HB
Wang
Yu
Y
Xiao
Wan-Xia
WX
Quan
Ying
Y
Dong
Bao-Ning
BN
D000328:Adult; D015703:Antigens, CD / Q000235:genetics; D060908:CTLA-4 Antigen; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006111:Graves Disease / Q000235:genetics; D050031:Hashimoto Disease / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D013967:Thyroiditis, Autoimmune / Q000235:genetics*; D055815:Young Adult
D015703:Antigens, CD; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22