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IL2RA Allele Increases Risk of Neuromyelitis Optica in Southern Han Chinese

Published online by Cambridge University Press:  23 September 2014

Yongqiang Dai
Affiliation:
Department of Neurology, the Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong Province, China
Jin Li
Affiliation:
Department of Neurology, the Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong Province, China
Xiaonan Zhong
Affiliation:
Department of Neurology, the Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong Province, China
Yuge Wang
Affiliation:
Department of Neurology, the Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong Province, China
Wei Qiu
Affiliation:
Department of Neurology, the Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong Province, China
Zhengqi Lu
Affiliation:
Department of Neurology, the Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong Province, China
Aimin Wu
Affiliation:
Department of Neurology, the Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong Province, China
Jian Bao
Affiliation:
Department of Neurology, the Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong Province, China
Fuhua Peng
Affiliation:
Department of Neurology, the Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong Province, China
Xueqiang Hu
Affiliation:
Department of Neurology, the Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong Province, China
Corresponding
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Abstract

Background:

Neuromyelitis optica (NMO) and multiple sclerosis (MS) are chronic neuro-inflammatory diseases believed to arise from complex interactions between environmental and genetic factors. Recently, single nucleotide polymorphisms (SNPs) in interleukin (IL)-2 and -7 receptor alpha genes have been identified as novel susceptibility alleles for MS in genome-wide association studies. However, similar research on NMO is limited. We aimed to investigate the association of IL2RA SNPs rs2104286 and rs12722489 and IL7RA SNP rs6897932 with Southern Han Chinese NMO and MS patients.

Methods:

Frequencies of the three SNPs were examined in Southern Han Chinese mS cases (n=78), NMS cases (n=67) and controls (n=133) using sequencing-based typing.

Results:

The rs2104286G frequency in the IL2RA gene was significantly higher in NMO patients than in controls (p uncorr=0.013, p corr=0.026, OR:1.942, 95%CI:1.146-3.291).

Conclusion:

The rs2104286 G allele in IL2RA is present at higher frequencies in NMO patients than in healthy controls within a Southern Han Chinese population.

Résumé

RÉSUMÉ Contexte:

La neuromyélite optique (NMO) et la sclérose en plaques (SP) sont des maladies neuroinflammatoires chroniques qu'on pense être dues à des interactions complexes entre des facteurs environnementaux et génétiques. Des polymorphismes d'un seul nucléotide (SNP) dans les gènes du récepteur alpha de l'interleukine 2 et de l'interleukine 7 ont été identifiés récemment par des études d'association pangénomiques comme étant des allèles de susceptibilité à la SP. Cependant, peu d'études semblables ont été faites sur la NMO. Le but de notre étude était d'examiner l'association des SNP rs2104286 et rs12722489 de IL2RA et le SNP rs6897932 de IL7RA chez des patients Chinois Han du sud atteints de NMO et de SP.

Méthode:

Nous avons utilisé des données administratives provinciales de réclamation pour identifier les individus atteints de la SP. Nous avons validé les définitions administratives de cas au moyen de la base de données cliniques de la seule clinique de SP de cette province. La concordance entre les sources de données a été évaluée au moyen du test de concordance Kappa. Nous avons ensuite appliqué ces définitions pour estimer l'incidence et la prévalence de la SP de 1990 à 2010.

Résultats:

La fréquence de rs2104286G du gène IL2RA est significativement plus élevée chez les patients atteints de NMO que chez les témoins (p sans ajustement = 0,013, p avec ajustement = 0,026 ; RC : 1,942 ; IC à 95% : 1,146 à 3,291)

Conclusion:

La présence de l'allèle rs2104286G du gène IL2RA est plus fréquente chez les patients atteints de NMO que chez des témoins sains de la population chinoise Han du sud.

Type
Original Article
Copyright
Copyright © The Canadian Journal of Neurological 2013

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