Association of TGFB3 rs2300607 (IVSI+ 5321) Gene Variant with Non Syndromic Cleft Lip/Palate in South Indian Patients

Singh, Varun Pratap; Ramu, Dinesh Mysore; Amarnath, BC; Dharma, RM; Chikanayaka, Prashanth; Shetty, Akshai

doi:10.5099/aj110300236

Cited by 3 publications

(4 citation statements)

References 14 publications

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“…The instrument has a good validity as described in the original version due to the use of an open-ended questionnaire, which was used to develop a close-ended questionnaire. Face validity was found to be satisfactory by virtue of relevant questions and subjective assessment [ 6 ]. To establish construct validity, 100 participants were asked to fill in the questionnaire followed by an interview with a researcher on the theme of the questionnaire, which was recorded and filled in by a second researcher.…”

Section: Discussionmentioning

confidence: 99%

“…The etiology of craniofacial anomalies is not entirely understood, but it is said that it is multifactorial, which includes both genetic and environmental factors. Genetic factors include mutations and polymorphisms or chromosomal aberrations like Down’s syndrome [ 6 – 8 ]. Environmental factors consisted of nutritional factors (e.g., vitamins, teratogens), medications (aspirin and valproic acid), viral infections like rubella, maternal smoking, and alcohol consumption [ 8 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

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Analytical study of the psychosocial impact of malocclusion and maxillofacial deformity in patients undergoing orthodontic treatment

et al. 2021

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Patients whose with facial appearance involves dental anomalies and malocclusion face an increased prevalence of various psychosocial problems such as a high level of social anxiety, social avoidance, and low quality of life. This study investigates the patients with craniofacial anomalies and their psychological adjustment concerning the facial and dental appearance. It also evaluates the expectations of this patient group from the orthodontic treatment. Two steps were done in this study. In the first step, translation and validation of the Derriford Appearance Scale (DAS59), The Psychosocial Impact of Dental Aesthetics Questionnaire (PIDAQ), and Patient Expectation from the Orthodontic Treatment (PEOTQ) questionnaires into Maithili were done, and then the main study was conducted using these valid questionnaires. This was a cross-sectional study conducted on the patients with congenital craniofacial anomalies visiting the orthodontics department of Patna Dental College and Hospital, Patna (Bihar). All the patients received the Maithili DAS, Maithili PIDAQ and Patients' Expectation from the orthodontic treatment questionnaires. The Maithili version of DAS59, PIDAQ and PEOTQ were developed with outstanding reliability and validity. A significant difference between PIDAQ (p<0.001) and DAS59 scores (p<0.001) was found. In females, the total PIDAQ score was significantly higher as compared to males, but there was no association of DAS scores with gender. Place of residence showed no association with PIDAQ and DAS59 scores in patients. Patients and controls had significant differences between various items, and a comparison was made in terms of expectation from the orthodontic treatment. Altered facial and dental appearance in patients with craniofacial anomalies showed a significant psychological impact.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Analytical study of the psychosocial impact of malocclusion and maxillofacial deformity in patients undergoing orthodontic treatment

et al. 2021

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“…In a study done by Singh et al . [ 11 ] in the Indian population, the TGF-β3 gene was found to be associated with nonsyndromic CL/P. However, the role of TGF-α and MTHFR genes in causing nonsyndromic CL/P in the Indian population has not been previously studied.…”

Section: Discussionmentioning

confidence: 99%

Association of Transforming Growth Factor Alpha and Methylenetetrahydrofolate reductase gene variants with nonsyndromic cleft lip and palate in the Indian population

et al. 2014

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Objectives:The aim was to evaluate the relationship of the K-primer variant of the transforming growth factor-alpha (TGF-α) gene and C677T variant of the methylenetetrahydrofolate reductase (MTHFR) gene with nonsyndromic cleft lip and palate (CL/P) in the Indian population.Setting and Sample Population:The study group consisted of DNA samples of 25 subjects with nonsyndromic CL with or without cleft palate and 25 unrelated controls, already existing in the Department of Orthodontics, D.A.P.M.R.V. Dental College, Bengaluru, Karnataka, India.Materials and Methods:The DNA samples were divided into two categories: Group A which included the 25 subjects with nonsyndromic CL/P; and Group B, which consisted of the 25 unrelated controls. The polymerase chain reaction (PCR) test was done for amplification of the region of interest from the DNA samples. Restriction digestion was then performed on the amplified product using the restriction enzyme HinfI, separately for each of the variants. The digested PCR products were separated into channels on a 1.5% agarose gel containing ethidium bromide in an electrophoretic chamber. A U.V. transilluminator was used to see the specific bands of base pairs of the digested PCR products.Results:In Group A, the TGF-α gene variant was present in 16 subjects (P = 0.001) and MTHFR gene variant was present in 8 subjects (P = 0.185). A combination of both gene variants were present in seven subjects, which was an interesting finding. In Group B, four subjects tested positive for the TGF-α and MTHFR gene variants.Conclusions:The TGF-α gene variant and a combination of TGF-α + MTHFR gene variants significantly contribute to the development of nonsyndromic CL/P and can be considered as genetic markers for Indian population. The MTHFR gene variant, though a minor risk factor, cannot be considered as a genetic marker.

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“…There are many genes that have been linked with NSCLP like MSX1, TGFB3, TGFA, IRF6, RARA, MTHFR,GABRB3, BCL3,WNT and the list is ever increasing with the latest development in this field. 1,3,4,5,6,7,8 There are various techniques that have been employed in the genetic investigations for NSCLP, the purpose of this review is to present and compare their utility.…”

Section: Introductionmentioning

confidence: 99%

Techniques for Genetic Analysis of Non Syndromal Cleft Lip/Palate: A Review

Singh¹,

Roy²,

Suwal³

et al. 2012

Am. J. Biomed. Sci.

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The formation of craniofacial structures during embryonic development involves various complex molecular pathways. Disturbances in these pathways either due to genetic or environmental factors may lead to orofacial clefts. Approximately two thirds of the cases are not accompanied by other anomalies and are called non syndromic. The etiology seems complex, but genetics plays a major role. With the advances in molecular biology and genetics such studies are more refined than ever before and various candidate genes have been associated with Non Syndromal cleft lip/palate in different populations. There are various techniques and models used by different investigators across the globe. In this review we intend to describe most common approaches towards genetic analysis of Non syndromic cleft and try to evaluate the merits and demerits of a particular approach.

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Association of TGFB3 rs2300607 (IVSI+ 5321) Gene Variant with Non Syndromic Cleft Lip/Palate in South Indian Patients

Cited by 3 publications

References 14 publications

Analytical study of the psychosocial impact of malocclusion and maxillofacial deformity in patients undergoing orthodontic treatment

Analytical study of the psychosocial impact of malocclusion and maxillofacial deformity in patients undergoing orthodontic treatment

Association of Transforming Growth Factor Alpha and Methylenetetrahydrofolate reductase gene variants with nonsyndromic cleft lip and palate in the Indian population

Techniques for Genetic Analysis of Non Syndromal Cleft Lip/Palate: A Review

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