Abstract
Aquaporins (AQPs) are membrane channels that provide for transport of water and other small molecules across the lipid bilayer of cells. Their function is essential for physiologic processes such as cell volume regulation, chondrocyte hypertrophy during appendicular skeletal growth, water reabsorption in the kidney tubules, and water excretion by the salivary glands. The ten AQP isoforms show tissue specificity and are involved in different pathologies and inflammatory diseases. This study addresses the hypothesis that arthritis, periodontitis, and temporomandibular joint disorders (TMDs) can be influenced by variation in the AQP genes at 12q13.12 locus. Salivary samples of 688 individuals were obtained from the Dental Registry and DNA Repository project at the University of Pittsburgh. Ten polymorphisms in four AQP genes (AQP1, 2, 5, and 6) were genotyped and correlated to disease status as reported by patients. Associations were found between the single nucleotide polymorphism (SNP) rs467323 in AQP2 and TMD in both genotypic (p = 0.03) and recessive (p = 0.02) models, and between rs1996315 in AQP6 and periodontitis (p = 0.05). Combined analysis of TMD and periodontitis showed an association with rs3741559 in AQP2 (p = 0.02). When conducting haplotype analysis of rs467323 and rs10875989 in AQP2, the haplotype CT showed an association with the TMD phenotype (p = 0.007). Our results suggest that the aquaporin locus at 12q13.12 may contribute to the pathogenesis of inflammatory conditions such as periodontitis and TMD. Thus, oral and skeletal health are correlated and potential susceptibility screening strategies may be developed.
Highlights
Aquaporins (AQP) are protein membrane channels expressed in numerous cell types such as endothelial and epithelial cells [1]
Aquaporin locus contributes to susceptibility of temporomandibular joint disorders (TMDs) associated with periodontitis
We used our genotyping data to recalculate power since we could derive relative risks for AA, Aa and aa directly from our results. These post-hoc calculations showed our power for the comparisons of the sample selected for arthritis, periodontitis, TMD, and TMD combined with periodontitis were 12%, 58%, 83.5%, and 68.6%, respectively
Summary
Aquaporins (AQP) are protein membrane channels expressed in numerous cell types such as endothelial and epithelial cells [1]. There are thirteen different isoforms with varying expression across cells and organs [2]. In addition to transporting water, they facilitate transport of small neutral-charge solutes, cell migration [3] and neuronal signaling [4]. Aquaporin locus contributes to susceptibility of TMD associated with periodontitis
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