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The ADAMTS9 gene is associated with mandibular retrusion in a Chinese population.

ADAMTS9 基因与中国人群下颌骨退缩相关。

  • 影响因子:2.60
  • DOI:10.1016/j.gene.2020.144701
  • 作者列表:"Cai Y","Ni Z","Chen W","Zhou Y
  • 发表时间:2020-07-30

OBJECTIVE:Many studies suggest that genetics plays an important role in mandibular retrusion. In this study, we hypothesized that single nucleotide polymorphisms (SNPs) of ADAMTS9 gene is associated with mandibular retrusion in a Han Chinese population. METHODS:Saliva samples from 60 patients undergoing orthodontic for correction of malocclusion were collected. 130 SNPs genotyping of ADAMTS9 was used to asses the association of polymorphisms with the mandibular retrusion. The general linear model using age,gender and ANB as covariates weighed the relationship between SNP and mandibular retrusion. Additionally we leveraged the generalized multifactor dimensionality reduction (GMDR) method to investigate SNP-SNP interactions. The significance level was set at P < 0.05 in this study. RESULTS:The general linear model results showed that four SNPs (rs1014640,rs7648540,rs75839462 and rs4605539) in the ADAMTS9 gene may be related to the occurrence of mandibular retrusion,even after Bonferroni correction. In addition, we further found that the interaction between the ADAMTS9 rs75839462 and ADAMTS9 rs80118777 promoted the occurrence of mandibular retrusion. CONCLUSION:Our finding suggest that the ADAMTS9 gene may cause mandibular retrsusion independently and through SNP-SNP interactions.


目的: 许多研究认为遗传学在下颌后缩中起着重要作用。在本研究中,我们假设ADAMTS9 基因的单核苷酸多态性 (SNPs) 与中国汉族人群的下颌骨退缩相关。 方法: 收集 60 例正畸矫治错牙合畸形患者的唾液标本。采用ADAMTS9 的 130 个SNPs基因分型评价多态性与下颌后缩的相关性。以年龄、性别和ANB为协变量的一般线性模型权衡了SNP与下颌骨退缩的关系。此外,我们利用广义多因子降维 (GMDR) 方法研究SNP-SNP相互作用。本研究中的显著性水平设定为P <0.05。 结果: 一般线性模型结果显示,ADAMTS9 基因中的 4 个SNPs (rs1014640 、rs7648540 、rs75839462 和rs4605539) 可能与下颌退缩的发生有关,即使在Bonferroni矫正后也是如此。此外,我们进一步发现ADAMTS9 rs75839462 和ADAMTS9 rs80118777 之间的相互作用促进了下颌后缩的发生。 结论: 我们的发现表明ADAMTS9 基因可能独立地通过SNP-SNP相互作用引起下颌骨退缩。



作者列表:["Denadai R","Seo HJ","Lo LJ"]

METHODS:BACKGROUND:The anterior oronasal fistulae neighboring the alveolar cleft could persist or reappear after the alveolar reconstruction with cancellous bone grafting. The persistent symptomatic anterior oronasal fistulae need to be repaired, but surgery remains a challenge in cleft care. Surprisingly, this issue has rarely been reported in the literature. The purpose of this long-term study was to report a single surgeon experience with a therapeutic protocol for persistent symptomatic anterior oronasal fistula repair. METHODS:This is a retrospective study of consecutive patients with Veau type III and IV clefts and persistent symptomatic anterior oronasal fistulae managed according to a therapeutic protocol from 1997 to 2018. Depending on fistula size, patients were treated with local flaps associated with an interpositional graft or two-stage tongue flaps (small/medium or large fistulae, respectively). The surgical outcomes were classified as "good" (complete fistula closure with no symptoms), "fair" (asymptomatic narrow fistula remained), or "poor" (failure with persistent symptoms). RESULTS:Forty-four patients with persistent symptomatic anterior oronasal fistulae were reconstructed with local flaps associated with interpositional fascia or dermal fat grafting (52.3%) or two-stage tongue flaps (47.7%). Most of patients (93.2%) presented "good" outcomes, ranging from 87% to 100% (local and tongue flaps, respectively). Three (6.8%) patients presented symptomatic residual fistula ("poor" outcomes). CONCLUSIONS:For the repair of persistent symptomatic anterior oronasal fistulae, this therapeutic protocol provided satisfactory outcome with low fistula recurrence rate.

翻译标题与摘要 下载文献
作者列表:["Cleary B","Loane M","Addor MC","Barisic I","de Walle HEK","Matias Dias C","Gatt M","Klungsoyr K","McDonnell B","Neville A","Pierini A","Rissmann A","Tucker DF","Zurriaga O","Dolk H"]

METHODS:OBJECTIVE:Methadone is a vital treatment for women with opioid use disorder in pregnancy. Previous reports suggested an association between methadone exposure and Pierre Robin sequence (PRS), a rare craniofacial anomaly. We assessed the association between gestational methadone exposure and PRS. DESIGN/SETTING:This case-malformed control study used European Surveillance of Congenital Anomalies population-based registries in Ireland, the Netherlands, Italy, Switzerland, Croatia, Malta, Portugal, Germany, Wales, Norway and Spain, 1995-2011. PATIENTS:Cases included PRS based on International Classification of Disease (ICD), Ninth Edition-British Paediatric Association (BPA) code 75 603 or ICD, Tenth Edition-BPA code Q8708. Malformed controls were all non-PRS anomalies, excluding genetic conditions, among live births, fetal deaths from 20 weeks' gestation and terminations of pregnancy for fetal anomalies. An exploratory analysis assessed the association between methadone exposure and other congenital anomalies (CAs) excluding PRS. Methadone exposure was ascertained from medical records and maternal interview. RESULTS:Among 87 979 CA registrations, there were 127 methadone-exposed pregnancies and 336 PRS cases. There was an association between methadone exposure and PRS (OR adjusted for registry 12.3, 95% CI 5.7 to 26.8). In absolute terms, this association reflects a risk increase from approximately 1-12 cases per 10 000 births. A raised OR was found for cleft palate (adjusted OR 5.0, 95% CI 2.7 to 9.2). CONCLUSIONS:These findings suggest that gestational methadone exposure is associated with PRS. The association may be explained by unmeasured confounding factors. The small increased risk of PRS in itself does not alter the risk-benefit balance for gestational methadone use. The association with cleft palate, a more common CA, should be assessed with independent data.

翻译标题与摘要 下载文献
作者列表:["Jahanbin A","Eslami N","Torkamanzadeh N"]

METHODS::Orthopedic treatment to improve deficient maxillary growth of cleft lip and palate patients is an important part of treatment. The success of this treatment is strongly dependent on the time of initiation of therapy. There has been a large controversy in the available literature regarding the skeletal age of these patients. The aim of the present study was to compare the skeletal age of cleft lip and palate patients with normal individuals.37 unilateral and 14 bilateral cleft lip and palate patients and 47 healthy individuals participated in this cross-sectional study. The patients were classified into 8 to 10 and 11 to 14-year-old individuals. Cervical vertebral maturational stage of participants was evaluated in the lateral cephalometry. The skeletal age of cleft lip and palate patients was compared with normal controls. Chi-square was used for statistical analysis. There was not a significant difference in the skeletal developmental stage of unilateral and bilateral cleft compared to their normal peers according to their age and sex. Also, significant difference in skeletal maturational stage of cleft lip and palate patients was not found between boys and girls (P = 0.8). Similarly, no significant difference was found in the skeletal age of the 3 studied groups without considering the age and sex of participants (P = 0.5). Regarding the similar skeletal maturational stage of cleft lip and palate patients with normal controls in our study, their maxillofacial orthopedic treatment can be initiated at similar time to normal peers.

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翻译标题与摘要 下载文献