Orthopaedic Research Laboratory, Erasmus MC P.O. Box 2040, 3000 CA Rotterdam, The Netherlands
Dept of Rheumatology Department of Clinical Epidemiology, Leiden University Medical Center, 2300 RC, Leiden, The Netherlands
Department of Molecular Epidemiology, Leiden University Medical Center, 2300 RC, Leiden, The Netherlands
The Netherlands Genomics Initiative‐sponsored Netherlands Consortium for Healthy Aging (NGI‐NCHA), Leiden, the Netherlands
Department of Radiology of the Leiden University Medical Center, 2300RC. Leiden, The Netherlands
Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, 2300 RC, Leiden, The Netherlands
Department of Biomechanical Engineering, Delft University of Technology, Delft, The Netherlands
Email: JH Waarsing (firstname.lastname@example.org)
*Correspondence: JH Waarsing, Dept. of Orthopedics, Erasmus Medical Center, Room Ee16‐14, Dr. Molenwaterplein 50, 3015 GE Rotterdam, The Netherlands
The authors do not have any financial conflict of interest
Genes and Disease Program, Center for Genomic Regulation (CRG‐UPF) and CIBERESP, Barcelona, Spain
Department of Biopathology, Division of Genetics, University of Rome “Tor Vergata”, Italy
Department of Internal Medicine and Medical Specialties, Sapienza University of Rome, Italy
Rheumatology Service, Complejo Hospitalario Universitario, A Coruña
Rheumatology Service; Hospital del Mar y de la Esperanza IMAS, Barcelona
Rheumatology Service; Hospital Universitario Marqués de Valdecilla, IFIMAV, Santander, Spain
Institute of Human Genetics, University of Erlangen‐Nuremberg, Germany
Instituto de Parasitología y Biomedicina López‐Neyra, CSIC, Granada
Fundación Gallega de Medicina Genómica y CIBERER ‐ Universidad de Santiago de Compostela
Email: Elisa Docampo (email@example.com) Xavier Estivill (firstname.lastname@example.org)
*Correspondence: Elisa Docampo, Emiliano Giardina, Xavier Estivill, Genes and Disease Program, Center for Genomic Regulation, PRBB building, Pl. Charles Darwin 1, 08003 Barcelona, Spain
The authors declare no conflicts of interest regarding this work
E.D. and E.G. contributed equally to this work
Tel: +34933160233 Fax: +34933160199
How to Cite
Wöber‐Bingöl, Ç., Tropeano, M., Karwautz, A., Wagner, G., Campos‐de‐Sousa, S., Zesch, H. E., Kienbacher, C., Natriashvili, S., Kanbur, I., Ray, M., Wöber, C. and Collier, D. A. , No Association Between Bipolar Disorder Risk Polymorphisms in ANK3 and CACNA1C and Common Migraine. Headache: The Journal of Head and Face Pain, no. doi: 10.1111/j.1526-4610.2011.01858.x
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Arthritis Research Therapy 2011, 13:R41 doi:10.1186/ar3277
Published: 11 March 2011
Toll-like receptor (TLR) 7, encoded on human chromosome Xp22.3, is crucial for type I interferon production. A recent multicenter
study in East Asian populations, which investigated Chinese, Korean and Japanese, identified association of TLR7 single nucleotide
polymorphism (SNP) located in the 3′ untranslated region (3′UTR), rs3853839, with systemic lupus erythematosus (SLE), especially
in males, although some difference was observed among the tested populations. In order to test whether additional polymorphisms
contribute to SLE in Japanese, we systematically analyzed association of TLR7 with SLE in a Japanese female population.
A case-control association study was conducted on eight tag SNPs in TLR7 region, including rs3853839, in 344 Japanese female
SLE and 274 healthy female controls.
In addition to rs3853839, two SNPs in the intron 2, rs179019 and rs179010, which were in moderate linkage disequilibrium with
each other (r2: 0.53), showed association with SLE (rs179019: P = 0.016, odds ratio [OR] 2.02, 95% confidence interval [CI]
1.15-3.54, rs179010: P = 0.018, OR 1.75, 95% CI 1.10-2.80, both under the recessive model). Conditional logistic regression
analysis revealed that the association of the intronic SNPs and the 3′UTR SNP remained significant after adjusting for each
other. When only the patients and controls carrying the risk genotypes at the 3′UTR SNP were analyzed, individuals also carrying
the risk genotypes at both of the intronic SNPs were significantly increased in SLE (P = 0.0043, OR 2.45, 95% CI 1.31-4.60).
Furthermore, the haplotype containing the intronic risk alleles in addition to the 3′UTR risk allele was associated with SLE
under the recessive model (P = 0.016, OR 2.37, 95% CI 1.17-4.80), but other haplotypes were not associated.
TLR7 intronic SNPs rs179019 and rs179010 are associated with SLE independently of the 3′UTR SNP rs3853839 in Japanese women.
Our findings support a role of TLR7 in predisposition to SLE in the Asian populations.