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. 2009 Mar-Apr;38(2):91-5.
doi: 10.1080/03009740802541488.

Lack of association between beta 2-adrenergic receptor polymorphisms and juvenile idiopathic arthritis

G Pont-Kingdon  1 , J Bohnsack, K Sumner, A Whiting, B Clifford, S S Guthery, L B Jorde, E Lyon, S Prahalad
Affiliations

Lack of association between beta 2-adrenergic receptor polymorphisms and juvenile idiopathic arthritis

G Pont-Kingdon et al. Scand J Rheumatol. 2009 Mar-Apr.

Abstract

Objective: Juvenile idiopathic arthritis (JIA) is a chronic autoimmune arthropathy. Beta 2-adrenergic receptors are a link between the sympathetic nervous system and the immune system. Associations between variants in the gene encoding the beta 2-adrenergic receptor (ADRB2) and autoimmune disorders such as rheumatoid arthritis (RA) have been demonstrated. We aimed to investigate ADRB2 variants for association with JIA.

Methods: Genotypes and haplotypes of two ADRB2 variants (G16R and Q27E) were determined in 348 children with JIA and 448 healthy controls by direct molecular haplotyping using melting-curve analysis of a fluorescently labelled loci-spanning probe. Case-control analysis was performed to investigate whether ADRB2 variants were associated with JIA.

Results: No association was found between JIA and alleles, genotypes, or haplotypes of ADRB2. Specifically, the haplotype that demonstrated a strong association with RA (R16/Q27) was not associated with JIA. None of the variants demonstrated association after stratification by JIA subtypes or gender.

Conclusions: Our results indicate that ADRB2 variants are not associated with JIA or any of the major JIA subtypes. These observations suggest that, although they share several clinical and pathological features, JIA and RA have unique genetic associations.

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Figures

Fig 1
Fig 1. Example of direct molecular haplotyping of the R16G and Q27E polymorphisms in ADRB2
Haplotypes are determined by negative derivative melting curves (fluorescence with respect to temperature,-dF/dT) of a fluorescent probe that analyze both loci simultaneously. In samples with 1 melting peak, both chromosomes contain the same haplotype while in samples with 2 melting peaks the 2 chromosomes have different haplotypes. Multiple examples of each of the possible four combinations of haplotype in an individual are shown. The probe is most stable with the R16-Q27 haplotype (Tm ∼60°C), has one mismatch with the G16-Q27 haplotype (Tm ∼55°C), and has two mismatches with the G16-E27 haplotype (Tm∼40°C).
See this image and copyright information in PMC

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