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伊朗东北部人群中[具体基因]单核苷酸多态性与非综合征性口面部裂隙的关联。 (原文中“and”前后内容缺失,以上为补充完整后的翻译示意)

Association between and Single-Nucleotide Polymorphisms and Non-syndromic Orofacial Clefts in the Northeast Population of Iran.

作者信息

Morvaridi Farimani Reza, Azimi-Nezhad Mohsen, KhorramKhorshid Hamid Reza, Ebadifar Asghar, Tohidkhah Saba, Jafarian Zahra, Kamali Koorosh, Nazari Zeinab, Ebrahimzadeh-Vesal Reza

机构信息

Department of Orthodontics, School of Dentistry, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Non-Communicable Diseases Research Center, Neyshabur University of Medical Sciences, Neyshabur, Iran.

出版信息

Avicenna J Med Biotechnol. 2022 Oct-Dec;14(4):310-316.

PMID:36504563
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9706251/
Abstract

BACKGROUND

Non-Syndromic Cleft Lip with or without cleft Palate (NSCL/P) is a common developmental disorder of the head and neck with a multifactorial etiology. The current study aimed to evaluate the potential association of (rs10512248) and (rs12681366) polymorphisms with NSCL/P in the Northeast Iranian population.

METHODS

In the present study, blood samples were taken from 122 subjects with NSCL/P and 161 healthy controls. Polymerase Chain Reaction (PCR) followed by Restriction Fragment Length Polymorphism (RFLP) were used to conduct genotyping of single-nucleotide polymorphisms.

RESULTS

Although differences were observed between cases and controls in rs10512248 and rs12681366, our data did not support a significant association of these polymorphisms with NSCL/P in our population.

CONCLUSION

Our findings suggest that polymorphisms of rs10512248 and rs12681366 may not be potential risk factors for NSCL/P in the Northeast Iranian population due to the multifactorial and multiethnicity characteristics of some genes.

摘要

背景

非综合征性唇裂伴或不伴腭裂(NSCL/P)是一种常见的头颈部发育障碍,病因多因素。本研究旨在评估(rs10512248)和(rs12681366)多态性与伊朗东北部人群NSCL/P的潜在关联。

方法

在本研究中,采集了122例NSCL/P患者和161例健康对照者的血样。采用聚合酶链反应(PCR)结合限制性片段长度多态性(RFLP)对单核苷酸多态性进行基因分型。

结果

虽然在rs10512248和rs12681366的病例和对照之间观察到差异,但我们的数据不支持这些多态性与我们人群中NSCL/P的显著关联。

结论

我们的研究结果表明,由于某些基因的多因素和多民族特征,rs10512248和rs12681366的多态性可能不是伊朗东北部人群NSCL/P的潜在危险因素。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea53/9706251/b61da104b296/AJMB-14-310-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea53/9706251/9b97364fb634/AJMB-14-310-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea53/9706251/b61da104b296/AJMB-14-310-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea53/9706251/9b97364fb634/AJMB-14-310-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea53/9706251/b61da104b296/AJMB-14-310-g002.jpg

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本文引用的文献

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Front Cell Dev Biol. 2021 Jul 8;9:638522. doi: 10.3389/fcell.2021.638522. eCollection 2021.
2
Amplification of RAD54B promotes progression of hepatocellular carcinoma via activating the Wnt/β-catenin signaling.RAD54B的扩增通过激活Wnt/β-连环蛋白信号促进肝细胞癌进展。
Transl Oncol. 2021 Aug;14(8):101124. doi: 10.1016/j.tranon.2021.101124. Epub 2021 May 25.
3
Susceptibility to DNA damage caused by abrogation of Rad54 homolog B: A putative mechanism for chemically induced cleft palate.
因 Rad54 同源物 B 的缺失导致 DNA 损伤的易感性:一种化学诱导腭裂的可能机制。
Toxicology. 2021 May 30;456:152772. doi: 10.1016/j.tox.2021.152772. Epub 2021 Apr 3.
4
Relationship of the rs10850110 and rs11611277 polymorphisms of the MYO1H gene with non-syndromic mandibular prognathism in the Iranian population.MYO1H 基因 rs10850110 和 rs11611277 多态性与伊朗人群非综合征性下颌前突的关系。
Dent Med Probl. 2020 Oct-Dec;57(4):433-440. doi: 10.17219/dmp/122004.
5
Genetics and signaling mechanisms of orofacial clefts.口腔颌面裂的遗传学和信号机制。
Birth Defects Res. 2020 Nov;112(19):1588-1634. doi: 10.1002/bdr2.1754. Epub 2020 Jul 15.
6
Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports as a Clefting Susceptibility Gene.非综合征性唇裂伴或不伴腭裂的全基因组关联研究在欧洲人群中鉴定出 16p12.1 上的一个提示性风险位点,并支持 作为腭裂易感性基因。
Genes (Basel). 2019 Dec 7;10(12):1023. doi: 10.3390/genes10121023.
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Genomic analyses in African populations identify novel risk loci for cleft palate.在非裔人群中的基因组分析鉴定出了腭裂的新风险基因座。
Hum Mol Genet. 2019 Mar 15;28(6):1038-1051. doi: 10.1093/hmg/ddy402.
8
Six NSCL/P Loci Show Associations With Normal-Range Craniofacial Variation.六个非综合征型唇腭裂基因座与正常范围的颅面变异相关。
Front Genet. 2018 Oct 25;9:502. doi: 10.3389/fgene.2018.00502. eCollection 2018.
9
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