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and polymorphisms in non-syndromic cleft lip with or without cleft palate in the Polish population.

作者信息

Zawiślak Alicja, Woźniak Krzysztof, Kawala Beata, Gupta Satish, Znamirowska-Bajowska Anna, Janiszewska-Olszowska Joanna, Lubiński Jan, Calvo-Guirado José Luis, Grocholewicz Katarzyna, Jakubowska Anna

机构信息

Department of Maxillofacial Orthopaedics and Orthodontics, Institute of Mother and Child, 01-211 Warsaw, Poland.

Department of Interdisciplinary Dentistry, Pomeranian Medical University, 70-111 Szczecin, Poland.

出版信息

Open Med (Wars). 2023 Apr 1;18(1):20230677. doi: 10.1515/med-2023-0677. eCollection 2023.


DOI:10.1515/med-2023-0677
PMID:37020525
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10068750/
Abstract

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is the most common developmental defect that significantly affects the morphology and function of the stomatognathic system in children. The etiology of these birth defects is multifactorial, and single nucleotide polymorphisms (SNPs) in and have been associated with NSCL/P. This study aimed to evaluate whether SNPs in , namely rs2013162, rs642961, rs2235373, and rs34010 in , are associated with NSCL/P occurrence in the Polish population. The study included 627 participants: 209 children with NSCL/P and 418 healthy controls. DNA was isolated from saliva in the study group and from umbilical cord blood in controls. Genotyping of polymorphisms was performed using quantitative PCR. There was no statistically significant association of gene variants with NSCL/P occurrence, although for rs2013162, AA genotype, odds ratio (OR) = 1.16 and for AC genotype, OR = 0.83; for rs642961, AA genotype, OR = 0.84 and for AG genotype, OR = 1.41; and for rs2235373, AA genotype, OR = 0.79 and for AG, OR = 0.85. In the instance of rs34010 polymorphism in , the presence of the AA genotype was statistically significant in reducing the risk of NSCL/P (OR = 0.31, = 0.001). Genetic variation in is an important risk marker of NSCL/P in the Polish population, which cannot be stated for the polymorphisms in the gene.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fd8a/10068750/a54020ee1669/j_med-2023-0677-fig001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fd8a/10068750/a54020ee1669/j_med-2023-0677-fig001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fd8a/10068750/a54020ee1669/j_med-2023-0677-fig001.jpg

相似文献

[1]
and polymorphisms in non-syndromic cleft lip with or without cleft palate in the Polish population.

Open Med (Wars). 2023-4-1

[2]
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Mol Biol Rep. 2023-2

[3]
Association of rs2013162 and rs2235375 Polymorphisms in Gene with Susceptibility to Non-Syndromic Cleft Lip and Palate.

Avicenna J Med Biotechnol. 2022

[4]
A comprehensive consolidation of data on the relationship between IRF6 polymorphisms and non-syndromic cleft lip/palate susceptibility: From 79 case-control studies.

J Stomatol Oral Maxillofac Surg. 2024-9

[5]
[Relationship between genetic polymorphisms of IRF6 rs642961 and nonsysdromic cleft lip with or without cleft palate].

Wei Sheng Yan Jiu. 2015-7

[6]
Association of Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population.

Int J Environ Res Public Health. 2021-10-31

[7]
Family-based association analysis between nonsyndromic cleft lip with or without cleft palate and IRF6 polymorphism in an Iranian population.

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[8]
IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate.

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[9]
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[10]
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引用本文的文献

[1]
Association between elevated maternal serum MSX1 and IRF6 levels and fetal orofacial clefts: implications for clinical prediction.

Am J Transl Res. 2025-4-15

[2]
Oral health in patients with cleft lip and palate: a systematic literature review and meta-analysis of periodontal and dental disease and oral microbiota (part 1).

BMC Oral Health. 2025-1-29

[3]
Investigating Single Nucleotide Polymorphisms in the Etiology of Cleft Lip and Cleft Palate in the Polish Population.

Int J Mol Sci. 2024-8-28

[4]
Testing Reported Associations of Gene Variants with Non-Syndromic Orofacial Clefts in the Polish Population.

Biomedicines. 2024-7-31

[5]
Single-Nucleotide Polymorphisms in Genes in Patients with Non-Syndromic Orofacial Clefts in a Polish Population.

Diagnostics (Basel). 2024-7-17

本文引用的文献

[1]
Association of Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population.

Int J Environ Res Public Health. 2021-10-31

[2]
Pleiotropy method reveals genetic overlap between orofacial clefts at multiple novel loci from GWAS of multi-ethnic trios.

PLoS Genet. 2021-7

[3]
Current concepts on cleft lip and palate etiology.

J Biol Regul Homeost Agents. 2019

[4]
Epidemiology, Etiology, and Treatment of Isolated Cleft Palate.

Front Physiol. 2016-3-1

[5]
IRF6 Is a Marker of Severity in Nonsyndromic Cleft Lip/Palate.

J Dent Res. 2015-4-20

[6]
Polymorphic variants in VAX1 gene (rs7078160) and BMP4 gene (rs762642) and the risk of non-syndromic orofacial clefts in the Polish population.

Dev Period Med. 2014

[7]
Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa.

Mol Genet Genomic Med. 2014-1-27

[8]
Investigation of FGF1 and FGFR gene polymorphisms in a group of Iranian patients with nonsyndromic cleft lip with or without cleft palate.

Int J Pediatr Otorhinolaryngol. 2014-5

[9]
A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts.

BMC Med Genet. 2013-3-20

[10]
IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population.

Am J Med Genet A. 2012-8-6

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