Are the genetic variants/haplotypes of the CDH1 gene contribute to skin tags and internal malignancies in skin tag subjects? A pilot study

IF 0.8 Q4 GENETICS & HEREDITY
Noha Rabie Bayomy , Suzy Fawzy Gohar , Reem Ahmed Abd El-Aziz , Amira Ibrahim Aldesoky , Nashwa Mahmoud Mouhamed Muharram
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Abstract

Background

What is the etiology of skin tags? What factors are involved in the patho-biochemistry of combined skin tags and internal malignancy? This study aimed to assess the possible linkage between CDH1 gene polymorphisms and skin tags and whether certain CDH1-SNPs are the key to developing internal malignancies in the subjects with skin tags.

Materials and methods

CDH1 polymorphisms were assessed in 164 skin tag subjects and 126 controls. We followed up the subjects with skin tags every six months for 48 months to assess whether anyone developed internal malignancy and if that malignancy was linked to certain CDH1 polymorphism.

Results

CDH1rs13689 genotypes were T/T (1.2% vs 4.8%), T/C (46% vs 60%) and C/C (70.7% vs 47.6%) for the skin tag subjects and the controls, respectively (p < 0.001). The CDH1rs17715799 genotypes were A/A (29.3% vs 50.8%), A/T (56.1% vs 44.4%) and T/T (14.6% vs 4.8%) for the skin tag subjects and the controls, respectively, (p < 0.001). After follow up, six patients with skin tags developed internal malignancies.

Conclusions

CDH1 genetic variants may be incriminated in the process of skin tag formation through epithelial-mesenchymal transition (EMT). Obesity and diabetes mellitus (DM) are substantial risk factors for EMT. Internal malignancy might develop with skin tags, so these patients should be followed up. The mutant CDH1rs13689 and/or rs17715799 may be the key to the presence of combined skin tags and malignancy.

CDH1基因的遗传变异/单倍型是否与皮赘和内部恶性肿瘤有关?一项初步研究
背景:皮赘的病因是什么?什么因素参与皮赘合并内部恶性肿瘤的病理生化?本研究旨在评估CDH1基因多态性与皮赘之间的可能联系,以及某些CDH1- snp是否是皮赘患者发生内部恶性肿瘤的关键。材料与方法对164例皮赘患者和126例对照组进行scdh1多态性分析。我们每6个月对有皮赘的受试者进行随访,持续48个月,以评估是否有人出现内部恶性肿瘤,以及该恶性肿瘤是否与某些CDH1多态性有关。结果皮垂组和对照组scdh1rs13689基因型分别为T/T (1.2% vs 4.8%)、T/C (46% vs 60%)和C/C (70.7% vs 47.6%) (p <0.001)。皮垂组和对照组的CDH1rs17715799基因型分别为A/A (29.3% vs 50.8%)、A/T (56.1% vs 44.4%)和T/T (14.6% vs 4.8%), p <0.001)。随访后,6例皮赘患者出现内部恶性肿瘤。结论scdh1基因变异可能参与皮赘上皮间质转化(epithelial-mesenchymal transition, EMT)形成过程。肥胖和糖尿病(DM)是EMT的重要危险因素。内部恶性肿瘤可能发展为皮赘,因此这些患者应随访。突变体CDH1rs13689和/或rs17715799可能是合并皮赘和恶性肿瘤存在的关键。
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来源期刊
Meta Gene
Meta Gene Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
1.10
自引率
0.00%
发文量
20
期刊介绍: Meta Gene publishes meta-analysis, polymorphism and population study papers that are relevant to both human and non-human species. Examples include but are not limited to: (Relevant to human specimens): 1Meta-Analysis Papers - statistical reviews of the published literature of human genetic variation (typically linked to medical conditionals and/or congenital diseases) 2Genome Wide Association Studies (GWAS) - examination of large patient cohorts to identify common genetic factors that influence health and disease 3Human Genetics Papers - original studies describing new data on genetic variation in smaller patient populations 4Genetic Case Reports - short communications describing novel and in formative genetic mutations or chromosomal aberrations (e.g., probands) in very small demographic groups (e.g., family or unique ethnic group). (Relevant to non-human specimens): 1Small Genome Papers - Analysis of genetic variation in organelle genomes (e.g., mitochondrial DNA) 2Microbiota Papers - Analysis of microbiological variation through analysis of DNA sequencing in different biological environments 3Ecological Diversity Papers - Geographical distribution of genetic diversity of zoological or botanical species.
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