Genetic Effect of Transforming Growth Factor Alpha Gene Variants on the Risk of Nonsyndromic Cleft Lip with or without Palate in Korean Populations

Kim, Bomi; Kim, Young Ho; Kim, Dong-Hyun; Park, Ji Wan; Baek, Seung‐Hak

doi:10.1597/13-067

Cited by 3 publications

(2 citation statements)

References 41 publications

(54 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, the findings of this meta‐analysis are contrary to our study and the studies by Ehlers Bertoja et al () in a Brazilian population, and Kim et al () in a Korean population (Kim et al, ). This may be due to genetic differences in different populations.…”

Section: Discussioncontrasting

confidence: 99%

Association Study of Transforming Growth Factor Alpha TaqI Polymorphism and the Risk of Cleft Lip and/or Palate in an Iranian Population

Bagheri¹,

Ebadifar

Khorshid

et al. 2017

Birth Defects Research

View full text Add to dashboard Cite

show abstract

Section: Discussioncontrasting

confidence: 99%

Association Study of Transforming Growth Factor Alpha TaqI Polymorphism and the Risk of Cleft Lip and/or Palate in an Iranian Population

Bagheri¹,

Ebadifar

Khorshid

et al. 2017

Birth Defects Research

View full text Add to dashboard Cite

show abstract

“…Genomic DNA was isolated from each blood sample by using a commercial DNA extraction kit (Quiagen Inc., Valencia, CA, USA) at the Samsung Biomedical Research Center, and genotype data were generated via SNP Genetics Inc. (Seoul, Republic of Korea) by using VeraCode Technology (Illumina Inc., San Diego, CA, USA). Details of these procedures are presented elsewhere [39].…”

Section: Snp Genotypingmentioning

confidence: 99%

Genetic Risk Assessment of Nonsyndromic Cleft Lip with or without Cleft Palate by Linking Genetic Networks and Deep Learning Models

Kang

Baek

Kim

et al. 2023

IJMS

Self Cite

View full text Add to dashboard Cite

Recent deep learning algorithms have further improved risk classification capabilities. However, an appropriate feature selection method is required to overcome dimensionality issues in population-based genetic studies. In this Korean case–control study of nonsyndromic cleft lip with or without cleft palate (NSCL/P), we compared the predictive performance of models that were developed by using the genetic-algorithm-optimized neural networks ensemble (GANNE) technique with those models that were generated by eight conventional risk classification methods, including polygenic risk score (PRS), random forest (RF), support vector machine (SVM), extreme gradient boosting (XGBoost), and deep-learning-based artificial neural network (ANN). GANNE, which is capable of automatic input SNP selection, exhibited the highest predictive power, especially in the 10-SNP model (AUC of 88.2%), thus improving the AUC by 23% and 17% compared to PRS and ANN, respectively. Genes mapped with input SNPs that were selected by using a genetic algorithm (GA) were functionally validated for risks of developing NSCL/P in gene ontology and protein–protein interaction (PPI) network analyses. The IRF6 gene, which is most frequently selected via GA, was also a major hub gene in the PPI network. Genes such as RUNX2, MTHFR, PVRL1, TGFB3, and TBX22 significantly contributed to predicting NSCL/P risk. GANNE is an efficient disease risk classification method using a minimum optimal set of SNPs; however, further validation studies are needed to ensure the clinical utility of the model for predicting NSCL/P risk.

show abstract

TGFα/HinfI Polymorphisms Contribute to Nonsyndromic Cleft Lip and Palate in Turkish Patients

Tüfekçi

Özdíler

Altuğ

et al. 2018

Genetic Testing and Molecular Biomarkers

View full text Add to dashboard Cite

show abstract

Genetic Effect of Transforming Growth Factor Alpha Gene Variants on the Risk of Nonsyndromic Cleft Lip with or without Palate in Korean Populations

Abstract: The association of the TGFA gene with NS-CL±P in Korean populations was not clearly found. However, the etiologic effect of the TGFA gene on NS-CL±P patients should be investigated in terms of maternal genotype influence.

Cited by 3 publications

References 41 publications

Association Study of Transforming Growth Factor Alpha TaqI Polymorphism and the Risk of Cleft Lip and/or Palate in an Iranian Population

Association Study of Transforming Growth Factor Alpha TaqI Polymorphism and the Risk of Cleft Lip and/or Palate in an Iranian Population

Genetic Risk Assessment of Nonsyndromic Cleft Lip with or without Cleft Palate by Linking Genetic Networks and Deep Learning Models

TGFα/HinfI Polymorphisms Contribute to Nonsyndromic Cleft Lip and Palate in Turkish Patients

Contact Info

Product

Resources

About