Associations between ACTN3 and OPPERA pain-related genes in malocclusion
نویسندگان
چکیده
Background We have investigated an orthognathic surgery population to determine how variation in masticatory muscle gene expression and genotype plays a key role in development of both jaw-deformation malocclusion and temporomandibular joint disorders (TMD). A gene of particular interest is ACTN3 since the common R577X polymorphism results in a-actinin-3 protein loss, reduced myofiber Zdisc structural integrity in skeletal muscle and decreased osteoblast/osteoclast activity in bone formation. Secondly, since the prevalence of TMD in this population is quite high (30%) we sought to determine if genes related to pain processes─previously identified in the Orofacial Pain: Prospective Evaluation and Risk Assessment Study (OPPERA) were differentially expressed.
منابع مشابه
ACTN3 R577X genotypes associate with Class II and deepbite malocclusions.
INTRODUCTION α-Actinins are myofibril anchor proteins that influence the contractile properties of skeletal muscles. ACTN2 is expressed in slow type I and fast type II fibers, whereas ACTN3 is expressed only in fast fibers. ACTN3 homozygosity for the 577X stop codon (ie, changing 577RR to 577XX, the R577X polymorphism) results in the absence of α-actinin-3 in about 18% of Europeans, diminishes ...
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The aim of this study was to examine the pathways between temporomandibular disorders (TMDs), occlusal characteristics, facial pain, and oral health-related quality of life in patients with severe malocclusion. The study comprised 94 (34 men and 60 women, mean age 38 years) adult patients who were referred for orthodontic or surgical-orthodontic treatment. All the patients had severe malocclusi...
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متن کاملAssociation analysis of ACE and ACTN3 in elite Caucasian and East Asian swimmers.
PURPOSE Polymorphic variation in the angiotensin-converting enzyme (ACE) and α-actinin-3 (ACTN3) genes has been reported to be associated with endurance and/or power-related human performance. Our aim was to investigate whether polymorphisms in ACE and ACTN3 are associated with elite swimmer status in Caucasian and East Asian populations. METHODS ACE I/D and ACTN3 R577X genotyping was carried...
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The alpha-actinin 3 (ACTN3) gene encodes a protein of the Z disk of myofibers, and a polymorphism of ACTN3 results in complete loss of the protein. The ACTN3 genotype (R577X) has been found to be associated with performance in Australian elite athletes (Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, and North K. Am J Hum Genet 73: 627-631, 2003). We studied associations between ...
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