Analysis of two autoimmunity genes, IRAK1 and MECP2, in giant cell arteritis.
OBJECTIVE
The Xq28 region, containing IRAK and MECP2, represent a common susceptibility locus for a high number of autoimmune diseases. Our aim in the present study was to evaluate the influence of the IRAK1 and MECP2 autoimmunity-associated genetic variants in the giant cell arteritis (GCA) susceptibility and its clinical subphenotypes.


METHODS
We analysed a total of 627 female biopsy-proven GCA patients and 1,520 female healthy controls of Spanish Caucasian origin. Two polymorphisms, rs1059702 and rs17345, located at IRAK1 and MECP2, respectively, were genotyped using TaqMan® allelic discrimination assays.


RESULTS
No association with any of the analysed polymorphisms was evident when genotype and allele frequencies were compared between GCA patients and controls (rs1059702: allelic p-value=0.699, OR=0.96, CI 95% 0.80-1.17; rs17435: allelic p-value=0.994, OR=1.00, CI 95% 0.84-1.19). Likewise, the subphenotype analysis yield similar negative results.


CONCLUSIONS
We have assessed for the first time the possible role of IRAK1 and MECP2 autoimmune disease-associated polymorphisms in GCA. Our data suggest that IRAK1 rs1059702 and MECP2 rs17435 genetic variants do not play a significant role in GCA susceptibility or severity.
Instituto de Parasitología y Biomedicina López-Neyra, CSIC, Granada, Spain. anamaort@ipb.csic.es.
Ana
A
Márquez
Roser
R
Solans
José
J
Hernández-Rodríguez
María C
MC
Cid
Santos
S
Castañeda
Marc
M
Ramentol
Inmaculada C
IC
Morado
Luis
L
Rodriguez-Rodriguez
Javier
J
Narváez
Carmen
C
Gómez-Vaquero
José A
JA
Miranda-Filloy
Víctor M
VM
Martínez-Taboada
Raquel
R
Ríos
Bernardo
B
Sopeña
Jordi
J
Monfort
María Jesús
MJ
García-Villanueva
Aleida
A
Martínez-Zapico
Begoña
B
Marí-Alfonso
Julio
J
Sánchez-Martín
Ainhoa
A
Unzurrunzaga
Enrique
E
Raya
Eugenio
E
de Miguel
Ana
A
Hidalgo-Conde
Ricardo
R
Blanco
Miguel Ángel
MÁ
González-Gay
Javier
J
Martín
D000368:Aged; D001158:Arteries / Q000473:pathology*; D015551:Autoimmunity / Q000235:genetics*; D001706:Biopsy; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D013700:Giant Cell Arteritis / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D006801:Humans; D053592:Interleukin-1 Receptor-Associated Kinases / Q000235:genetics*; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D013030:Spain / Q000453:epidemiology; D044465:White People / Q000235:genetics
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; C507768:IRAK1 protein, human; D053592:Interleukin-1 Receptor-Associated Kinases