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PAX7 基因多态性与咀嚼肌紊乱的关系:可能与肌肉干细胞有关。

PAX7 gene polymorphism in muscular temporomandibular disorders as potentially related to muscle stem cells.

机构信息

School of Dentistry, Universidade Federal Fluminense, Mario Santos Braga St, 28 - Center, Niterói, RJ, 24020-140, Brazil.

University of Pittsburgh School of Dental Medicine, Pittsburgh, USA.

出版信息

BMC Musculoskelet Disord. 2021 Nov 17;22(1):959. doi: 10.1186/s12891-021-04846-w.

Abstract

BACKGROUND

Temporomandibular disorders (TMD) are a group of painful and debilitating disorders, involving the masticatory muscles and/or the temporomandibular joint (TMJ). Chronic TMD pain can be associated with genetic changes in the key muscle development genes.

OBJECTIVE

To evaluate the association between polymorphisms in the PAX7 (paired box 7) gene and masticatory myalgia in patients with temporomandibular disorders (TMD).

MATERIALS AND METHODS

This is a case-control study. Patients with TMD were divided into two groups: (a) presence of muscular TMD (n = 122) and (b) absence of muscular TMD (n = 49). Genomic DNA was obtained from saliva samples from all participants to allow for genotyping single nucleotide polymorphisms in PAX7 (rs766325 and rs6659735). Over-representation of alleles was tested using chi-square or Fisher's exact tests. Values of p < 0.05 were considered to be statistically significant.

RESULTS

Individuals without muscular TMD were less likely to have the PAX7 rs6659735 GG genotype (p = 0.03). No associations were found for PAX7 rs766325.

CONCLUSIONS

Alterations in PAX7 may influence muscular pathophysiology and individuals with TMD and the rs6659735 homozygous genotype (GG) are seemingly associated with muscular involvement of the disorder. No associations were found in the region rs766325.

摘要

背景

颞下颌关节紊乱(TMD)是一组疼痛和使人虚弱的疾病,涉及咀嚼肌和/或颞下颌关节(TMJ)。慢性 TMD 疼痛可能与关键肌肉发育基因的遗传变化有关。

目的

评估 PAX7(配对盒 7)基因多态性与颞下颌关节紊乱(TMD)患者咀嚼肌痛之间的关系。

材料和方法

这是一项病例对照研究。将 TMD 患者分为两组:(a)存在肌肉 TMD(n=122)和(b)不存在肌肉 TMD(n=49)。从所有参与者的唾液样本中获取基因组 DNA,以允许对 PAX7(rs766325 和 rs6659735)中的单核苷酸多态性进行基因分型。使用卡方检验或 Fisher 精确检验测试等位基因的过度表达。p<0.05 的值被认为具有统计学意义。

结果

没有肌肉 TMD 的个体不太可能具有 PAX7 rs6659735 GG 基因型(p=0.03)。未发现 PAX7 rs766325 的关联。

结论

PAX7 的改变可能会影响肌肉病理生理学,TMD 患者和 rs6659735 纯合基因型(GG)的个体似乎与疾病的肌肉受累有关。在 rs766325 区域未发现关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f53f/8600756/d37431581c2c/12891_2021_4846_Fig1_HTML.jpg

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