scholarly journals A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1

2015 ◽  
Vol 24 (14) ◽  
pp. 3895-3907 ◽  
Author(s):  
Andrew C. Lidral ◽  
Huan Liu ◽  
Steven A. Bullard ◽  
Greg Bonde ◽  
Junichiro Machida ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Thyroid Cancer ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Oral Epithelium ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

scholarly journals Detection of Single Nucleotide Polymorphism rs2013162 of IRF6 Gene in Patient with Cleft Lip and Palate

2019 ◽  
Vol 3 (1) ◽  
pp. 28-40
Author(s):  
Husnain Shehzad ◽  
Osheen Shehzad
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Melting Curve ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Pakistani Population ◽  
Irf6 Gene ◽  
High Resolution Melting Curve ◽  
Hardy Weinberg Equilibrium

Abstract: Background: Cleft lip and palate are congenital disorders which induce affected individuals medically, socially and psychologically. The objective of this study was to investigate the association of Single Nucleotide Polymorphism(SNP); rs2013162 of IRF6 Gene in Patient with Cleft Lip and Palate. Materials and Methods: Fifty patients with non-syndromic CL/P were included in present study alongwith fifty individuals with no psychiatric history as controls. In all of the these individuals, search for Single nucleotide polymorphism was carried out by designing sequence specific primers. The sequence was amplified by using Real time PCR and products were investigated by visualizing high resolution melting curve upon HRM-PCR. Results: The logistic regression and Hardy-Weinberg equilibrium were applied to investigate the association of IRF6 SNP rs2013162 with disease. Results revealed no association of this polymorphism with non-syndromic CL/P. Conclusion: We found no association of IRF6 SNP rs2013162 in patients with non-syndromic CL/P. Further study is required with larger sample size to validate the findings of the present study in Pakistani population and along with this SNP other polymorphisms of the same gene should be analyzed to find out the association with the non-syndromic CL/P.

scholarly journals Nicholas Gordon Martin

2020 ◽  
Vol 23 (2) ◽  
pp. 72-73
Author(s):  
Georgia Chenevix-Trench
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Association Study ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Single Nucleotide Polymorphism Association

AbstractWe performed a candidate single-nucleotide polymorphism association study of cleft lip and palate in 1992 which earned more citations than it had subjects (N = 230).

Talon Cusp Associates With MMP2 in a Cohort of Individuals Born With Oral Clefts

2020 ◽  
pp. 105566562095856
Author(s):  
Bianca G. N. Cavalcante ◽  
Rosa Helena W. Lacerda ◽  
Ionária O. Assis ◽  
Mariana Bezamat ◽  
Adriana Modesto ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Dental Development ◽  
Internal Anatomy ◽  
Dental Anomalies ◽  
Extended Phenotype ◽  
Nucleotide Polymorphism ◽  
Chi Square ◽  
Single Nucleotide ◽  
Oral Clefts

Objective: The aim of this study was to use dental development as a tool to subphenotype oral clefts and investigate the association of MMP2 with dentin-pulp complex anomalies, in order to identify dental anomalies that are a part of a “cleft syndrome.” Design: Two hundred and ninety individuals born with cleft lip and palate were evaluated and several clinical features, such as cleft completeness or incompleteness, laterality, and presence of dental anomalies were used to assess each individual’s cleft status. We tested for overrepresentation of MMP2 single nucleotide polymorphism rs9923304 alleles depending on individuals having certain dental anomalies. Chi-square and Fisher exact tests were used in all comparisons (α = .05). Results: All individuals studied had at least one dental anomaly outside the cleft area. Significant differences between individuals born with clefts with and without talon cusp ( P = .04) were observed for the frequency of the MMP2 less common allele. Conclusion: All individuals born with cleft lip and palate had alterations of the dentition, and a quarter to half of the individuals had alterations of the internal anatomy of their teeth, which further indicates that dental anomalies can be considered as an extended phenotype for clefts. MMP2 was associated with talon cusp in individuals born with oral clefts.

scholarly journals Single Nucleotide Polymorphism rs17849071 G/T in the PIK3CA Gene Is Inversely Associated with Follicular Thyroid Cancer and PIK3CA Amplification

PLoS ONE ◽  
2012 ◽  
Vol 7 (11) ◽  
pp. e49192 ◽  
Author(s):  
Jeffrey C. Xing ◽  
Ralph P. Tufano ◽  
Avaniyapuram Kannan Murugan ◽  
Dingxie Liu ◽  
Gary Wand ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Thyroid Cancer ◽  
Nucleotide Polymorphism ◽  
Follicular Thyroid Cancer ◽  
Single Nucleotide ◽  
Pik3ca Gene ◽  
Pik3ca Amplification
Sign in / Sign up

Export Citation Format

Share Document