Complex association analysis of graves disease using a set of polymorphic markers.
Graves disease is complex autoimmune thyrotoxicosis. A number of genes may contribute to the development of the disorder. Some of them may be genes that encode cytotoxic T-lymphocyte-associated serine esterase-4 (CTLA4), subunit 2 of large multifunctional protease (LMP2), thyroid-stimulating hormone receptor (TSHR), and interleukin 1 receptor antagonist (IL1RN). We studied polymorphism of Ala17Thr CTLA4, H60R LMP2, Pro52Thr TSHR, and IL1RN-VNTR in healthy controls (n = 93) and patients with Graves disease (n = 78) using PCR. To study CTLA4, H60R, and TSHR polymorphism, PCR products were digested with MboI, Hin6I and PsyI, respectively. Comparative analysis using chi(2) test showed significant differences in allele and genotype frequency of Ala17Thr polymorphic marker between the two groups studied. Thus, the CTLA4 gene may be involved in the pathogenesis of Graves disease in a Moscow population.
Chistyakov
D A
DA
Department of Molecular Diagnostics, State Research Center GosNIIgenetika, 1st Dorozhny Proezd 1, Moscow, 113545, Russia. dimitry.chistiakov@eudoramial.com
Savost'anov
K V
KV
Turakulov
R I
RI
Petunina
N A
NA
Trukhina
L V
LV
Kudinova
A V
AV
Balabolkin
M I
MI
Nosikov
V V
VV
D000069594:Abatacept; D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D015703:Antigens, CD; D000943:Antigens, Differentiation / Q000235:genetics*; D060908:CTLA-4 Antigen; D004247:DNA / Q000032:analysis; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D005838:Genotype; D006111:Graves Disease / Q000235:genetics*; D006801:Humans; D018796:Immunoconjugates; D053590:Interleukin 1 Receptor Antagonist Protein; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D011989:Receptors, Thyrotropin / Q000235:genetics*; D015183:Restriction Mapping; D012795:Sialoglycoproteins / Q000235:genetics*; D014763:Viral Matrix Proteins / Q000235:genetics*
D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; C037662:EBV-associated membrane antigen, Epstein-Barr virus; D005819:Genetic Markers; C507763:IL1RN protein, human; D018796:Immunoconjugates; D053590:Interleukin 1 Receptor Antagonist Protein; D011989:Receptors, Thyrotropin; D012795:Sialoglycoproteins; D014763:Viral Matrix Proteins; D000069594:Abatacept; D004247:DNA