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Original Article


Genetic Variant rs4982958 at 14q11.2 Is Associated With Allergic Rhinitis in a Chinese Han Population
Running title: 14q11.2 Is a Susceptibility Locus for Allergic Rhinitis


XF Tang,1-3,* HY Tang,1-3,* LD Sun,1-3 FL Xiao,1-3 Z Zhang,1-3 Y LI,1-3 XB Zuo,2,3 FS Zhou,2,3 KL Yang,4 P Fang,4 YH Liu,4 WD Du,2,3 S Yang,1-3 ML Duan,4,5 XJ Zhang1-3

1Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China
2Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China
3State key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China
4Department of Otolaryngology Head and Neck, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China
5Department of Clinical Science, Intervention and Technology Karolinska University Hospital, Stockholm, Sweden
*These authors contributed equally to this study.

J Investig Allergol Clin Immunol 2012; Vol. 22(1): 55-62



Background: Allergic rhinitis (AR) is one of the most common diseases caused by the combined effects of intrinsic factors (susceptibility genes and immunological status) and the external environment. Analyses of ascendant family history of atopic disease suggest that AR and atopic dermatitis might share a similar genetic background.

Objective: To conduct a case-control study in a Chinese Han population to evaluate the potential influence of single nucleotide polymorphisms (SNPs) at FLG, 5q22.1, 11q13.5, 14q11.2 and 20q13.33 on AR.

Methods: Ten SNPs—rs11204971 and rs3126085 at FLG, rs10067777, rs7701890, rs13360927, and rs13361382 at 5q22.1, rs6010620 at 20q13.33, rs7936562 and rs7124842 at 11q13.5, and rs4982958 at 14q11.2 were genotyped in 363 cases and 668 controls using the Sequenom MassArray system. Data were analyzed with PLINK 1.07 software.

Results: The T allele of rs4982958 at 14q11.2 was observed to be significantly associated with AR (P=.002, OR=0.73, PBonferroni=.02). Genotypebased
association testing revealed that the recessive model might provide the best fit for rs4982958 (PBonferroni=.01). In subphenotype analyses, the rs4982958 T allele was also signifi cantly associated with persistent AR (P =.01) and more than 2 positive skin prick tests (P=.038).

Conclusion: We identified a novel susceptibility locus 14q11.2 for AR that might bear candidate genes conferring susceptibility to AR and affecting disease phenotypes.

Key words: Allergic rhinitis. Genetic. Susceptibility. 14q11.2. Polymorphism.