Aquaporin locus (12q13.12) might contribute to susceptibility of temporomandibular joint disorder associated with periodontitis

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 reabsorpti...

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Veröffentlicht in:PloS one 2020-03, Vol.15 (3), p.e0229245
Hauptverfasser: Bezamat, Mariana, Cunha, Emanuelle J, Modesto, Adriana M, Vieira, Alexandre R, Taboas, Juan M
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Cunha, Emanuelle J
Modesto, Adriana M
Vieira, Alexandre R
Taboas, Juan M
description 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.
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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. 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Cunha, Emanuelle J ; Modesto, Adriana M ; Vieira, Alexandre R ; Taboas, Juan M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c593t-9d9fbf7b7cf23f35fe8769bb16ab096e857b598d5eef058569cc7cdacea8c2233</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Analysis</topic><topic>Aquaporin 1</topic><topic>Aquaporin 2</topic><topic>Aquaporin 6</topic><topic>Aquaporins</topic><topic>Aquaporins - genetics</topic><topic>Arthritis</topic><topic>Biology</topic><topic>Biology and Life Sciences</topic><topic>Cell adhesion &amp; migration</topic><topic>Cell size</topic><topic>Chondrocytes</topic><topic>Chromosome 12</topic><topic>Dentistry</topic><topic>Deoxyribonucleic acid</topic><topic>Disease</topic><topic>Disease susceptibility</topic><topic>Diseases</topic><topic>DNA</topic><topic>Female</topic><topic>Genes</topic><topic>Genetic Loci - genetics</topic><topic>Genetic polymorphisms</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Genotype &amp; 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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.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>32130259</pmid><doi>10.1371/journal.pone.0229245</doi><orcidid>https://orcid.org/0000-0003-0523-3359</orcidid><oa>free_for_read</oa></addata></record>
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subjects Adult
Aged
Aged, 80 and over
Analysis
Aquaporin 1
Aquaporin 2
Aquaporin 6
Aquaporins
Aquaporins - genetics
Arthritis
Biology
Biology and Life Sciences
Cell adhesion & migration
Cell size
Chondrocytes
Chromosome 12
Dentistry
Deoxyribonucleic acid
Disease
Disease susceptibility
Diseases
DNA
Female
Genes
Genetic Loci - genetics
Genetic polymorphisms
Genetic Predisposition to Disease - genetics
Genotype & phenotype
Gum disease
Haplotypes
Humans
Hypertrophy
Inflammation
Inflammatory diseases
Isoforms
Joints (anatomy)
Lipid bilayers
Lipids
Loci
Male
Medical research
Medicine and Health Sciences
Membrane channels
Middle Aged
Nucleotides
Pathogenesis
Pediatrics
Periodontitis
Periodontitis - complications
Phenotypes
Polymorphism
Polymorphism, Single Nucleotide
Reabsorption
Research and Analysis Methods
Rheumatoid arthritis
Salivary gland
Salivary glands
Single nucleotide polymorphisms
Single-nucleotide polymorphism
Temporomandibular joint
Temporomandibular Joint Disorders - complications
Temporomandibular Joint Disorders - genetics
Tubules
Young Adult
title Aquaporin locus (12q13.12) might contribute to susceptibility of temporomandibular joint disorder associated with periodontitis
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