Genotype–phenotype correlation in migraine without aura focusing on the rs1835740 variant on 8q22.1

The Journal of Headache and Pain

Original

Anne Francke Christensen¹  Jes Olesen¹  Malene Kirchmann¹  Han Le¹ 

[1] Department of Neurology, Danish Headache Center, University of Copenhagen, Glostrup University Hospital, Nordre Ringvej 57, Glostrup, 2600, Copenhagen, Denmark;

关键词: Migraine;    Migraine without aura;    Phenotype;    Genotype;    Clinical characteristics;   

DOI  :  10.1007/s10194-011-0386-5

 received in 2011-08-03, accepted in 2011-09-02,  发布年份 2011

来源: Springer

【 摘 要 】

A large two-stage GWAS by Antilla et al. reported the minor allele of rs1835740 on 8q22.1 to be associated with common types of migraine. The objective of the present study was to determine the clinical correlate of the variant in migraine without aura (MO). Clinical data on 339 successfully genotyped MO patients (patients with attacks of migraine without aura and no attacks of migraine with aura) were obtained by an extensive validated semi-structured telephone interview performed by a physician or a trained senior medical student. Reliable, systematic and extensive data on symptoms, age of onset, attack frequencies and duration, relevant comorbidity, specific provoking factors including different hormonal factors in females, and effect and use of medication, both abortive and prophylactic, were thereby obtained. A comparison of carriers and non-carriers were performed. Comparison of homozygotes with heterozygotes was not performed as the number of homozygotes was too small for statistical purposes. Data from other MO populations in the GWAS by Antilla et al. were not included as phenotype and clinical data were obtained differently. While thousands of patients are needed to detect a genetic variant like rs1835740, 339 are sufficient to detect meaningful clinical differences. 136 of 339 patients were carriers of the variant, 15 were homozygous. Comparison of carriers with non-carriers showed no significant difference in any of the parameters studied. In conclusion, the rs1835740 variant has no significant influence on the clinical expression of MO.

【 授权许可】

CC BY   
© The Author(s) 2011