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A novel G26A variation in 5′ half of TGIF1 gene associates with high myopia in ethnic Kashmiri population from India
This study aims to look at novel variations in TGIF1 gene and explores their potential association with high myopia in an ethnic population from Kashmir (India). Genomic DNA was genotyped for polymorphic variations, and allele frequencies were tested for the Hardy–Weinberg disequilibrium in 240 ethn...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7787093/ https://www.ncbi.nlm.nih.gov/pubmed/33437604 http://dx.doi.org/10.4103/tjo.tjo_16_19 |
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author | Rasool, Shabhat Dar, Rubiya Bhat, Arif Akbar Ayub, Shiekh Gazalla Rehman, Muneeb U Rashid, Sabia Jan, Tariq Andrabi, Khursheed Iqbal |
author_facet | Rasool, Shabhat Dar, Rubiya Bhat, Arif Akbar Ayub, Shiekh Gazalla Rehman, Muneeb U Rashid, Sabia Jan, Tariq Andrabi, Khursheed Iqbal |
author_sort | Rasool, Shabhat |
collection | PubMed |
description | This study aims to look at novel variations in TGIF1 gene and explores their potential association with high myopia in an ethnic population from Kashmir (India). Genomic DNA was genotyped for polymorphic variations, and allele frequencies were tested for the Hardy–Weinberg disequilibrium in 240 ethnic Kashmiri cases with high myopia with a spherical equivalent of >−6 diopters (D) and compared with emmetropic controls with spherical equivalent within −0.5D in one or both eyes represented by a sample size of 228. In this study, we found a novel sequence variation G26A (GAT to AAT) in 5′ half of TGIF1 gene (p. aspartic acid >asparagine) at a frequency of 62% (148/240, P ≤ 0.0001). Variation appears to associate with high myopia significantly (P ≤ 0.001) as it happens to be present only in high myopia affected individuals. Further, it shows statistical significance for its association with gender and the degree of myopia (P ≤ 0.05). In addition, in silico predictions show that variation likely has an impact on the structure and functional properties of the protein. The assessment of the I-TASSER protein structure showed higher energy for a wild-type protein (−5820.186 kJ/mol) as compared to mutant protein (−6595.593 kJ/mol). |
format | Online Article Text |
id | pubmed-7787093 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-77870932021-01-11 A novel G26A variation in 5′ half of TGIF1 gene associates with high myopia in ethnic Kashmiri population from India Rasool, Shabhat Dar, Rubiya Bhat, Arif Akbar Ayub, Shiekh Gazalla Rehman, Muneeb U Rashid, Sabia Jan, Tariq Andrabi, Khursheed Iqbal Taiwan J Ophthalmol Brief Communication This study aims to look at novel variations in TGIF1 gene and explores their potential association with high myopia in an ethnic population from Kashmir (India). Genomic DNA was genotyped for polymorphic variations, and allele frequencies were tested for the Hardy–Weinberg disequilibrium in 240 ethnic Kashmiri cases with high myopia with a spherical equivalent of >−6 diopters (D) and compared with emmetropic controls with spherical equivalent within −0.5D in one or both eyes represented by a sample size of 228. In this study, we found a novel sequence variation G26A (GAT to AAT) in 5′ half of TGIF1 gene (p. aspartic acid >asparagine) at a frequency of 62% (148/240, P ≤ 0.0001). Variation appears to associate with high myopia significantly (P ≤ 0.001) as it happens to be present only in high myopia affected individuals. Further, it shows statistical significance for its association with gender and the degree of myopia (P ≤ 0.05). In addition, in silico predictions show that variation likely has an impact on the structure and functional properties of the protein. The assessment of the I-TASSER protein structure showed higher energy for a wild-type protein (−5820.186 kJ/mol) as compared to mutant protein (−6595.593 kJ/mol). Wolters Kluwer - Medknow 2019-10-17 /pmc/articles/PMC7787093/ /pubmed/33437604 http://dx.doi.org/10.4103/tjo.tjo_16_19 Text en Copyright: © 2019 Taiwan J Ophthalmol http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Brief Communication Rasool, Shabhat Dar, Rubiya Bhat, Arif Akbar Ayub, Shiekh Gazalla Rehman, Muneeb U Rashid, Sabia Jan, Tariq Andrabi, Khursheed Iqbal A novel G26A variation in 5′ half of TGIF1 gene associates with high myopia in ethnic Kashmiri population from India |
title | A novel G26A variation in 5′ half of TGIF1 gene associates with high myopia in ethnic Kashmiri population from India |
title_full | A novel G26A variation in 5′ half of TGIF1 gene associates with high myopia in ethnic Kashmiri population from India |
title_fullStr | A novel G26A variation in 5′ half of TGIF1 gene associates with high myopia in ethnic Kashmiri population from India |
title_full_unstemmed | A novel G26A variation in 5′ half of TGIF1 gene associates with high myopia in ethnic Kashmiri population from India |
title_short | A novel G26A variation in 5′ half of TGIF1 gene associates with high myopia in ethnic Kashmiri population from India |
title_sort | novel g26a variation in 5′ half of tgif1 gene associates with high myopia in ethnic kashmiri population from india |
topic | Brief Communication |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7787093/ https://www.ncbi.nlm.nih.gov/pubmed/33437604 http://dx.doi.org/10.4103/tjo.tjo_16_19 |
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