Association of polymorphisms in the intron of TCF4 gene to late-onset Fuchs endothelial corneal dystrophy: An Indian cohort study
Purpose: Fuchs endothelial corneal dystrophy (FECD) is a progressive degenerative disease of the corneal endothelium. It is genetically heterogeneous and follows either an autosomal dominant or sporadic pattern of inheritance. Here, we have explored the association of four previously reported intron...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2017-01-01
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| Series: | Indian Journal of Ophthalmology |
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| Online Access: | http://www.ijo.in/article.asp?issn=0301-4738;year=2017;volume=65;issue=10;spage=931;epage=935;aulast=Rao |
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| author | Bhavna S Rao Arokiasamy Tharigopala Sudhir R Rachapalli Rama Rajagopal Nagasamy Soumittra |
| author_facet | Bhavna S Rao Arokiasamy Tharigopala Sudhir R Rachapalli Rama Rajagopal Nagasamy Soumittra |
| author_sort | Bhavna S Rao |
| collection | DOAJ |
| description | Purpose: Fuchs endothelial corneal dystrophy (FECD) is a progressive degenerative disease of the corneal endothelium. It is genetically heterogeneous and follows either an autosomal dominant or sporadic pattern of inheritance. Here, we have explored the association of four previously reported intronic single nucleotide polymorphisms and intronic CTG repeat expansions in TCF4 gene to FECD in an Indian cohort. Methods: The cohort consisting of 52 sporadic late-onset cases, 5 early-onset cases, and 148 controls was taken for the study. rs2286812 and rs613872 were genotyped by allele specific polymerase chain reaction (ASPCR) and PCR-based restriction digestion, respectively; rs17595731 and rs9954153 were genotyped by Taqman assay using real-time PCR. The quantitative assessment of the CTG repeat region was performed by PCR/Sanger DNA sequencing. The repeats were assessed qualitatively by short tandem repeat and triplet repeat primed PCR assays. The statistical analysis was performed using two-tailed Fisher's exact probability test. Results: SNPsrs613872 (G/T) for the 'G' allele (P value: 4.57 × 10−5) and rs17595731 (C/T) for the 'C' allele (P value: 1.87 × 10−5), respectively, showed a significant association to sporadic late-onset FECD. CTG repeat expansions were found to be associated with FECD with a P value = 2.4 × 10−3. Conclusion: rs613872, rs17595731, and CTG repeat expansions in intronic region of TCF4 are associated with increased risk of sporadic late-onset FECD in the Indian cohort studied. |
| first_indexed | 2024-04-12T21:29:19Z |
| format | Article |
| id | doaj.art-7822612351584112bfcffca44159d037 |
| institution | Directory Open Access Journal |
| issn | 0301-4738 1998-3689 |
| language | English |
| last_indexed | 2024-04-12T21:29:19Z |
| publishDate | 2017-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Ophthalmology |
| spelling | doaj.art-7822612351584112bfcffca44159d0372022-12-22T03:16:05ZengWolters Kluwer Medknow PublicationsIndian Journal of Ophthalmology0301-47381998-36892017-01-01651093193510.4103/ijo.IJO_191_17Association of polymorphisms in the intron of TCF4 gene to late-onset Fuchs endothelial corneal dystrophy: An Indian cohort studyBhavna S RaoArokiasamy TharigopalaSudhir R RachapalliRama RajagopalNagasamy SoumittraPurpose: Fuchs endothelial corneal dystrophy (FECD) is a progressive degenerative disease of the corneal endothelium. It is genetically heterogeneous and follows either an autosomal dominant or sporadic pattern of inheritance. Here, we have explored the association of four previously reported intronic single nucleotide polymorphisms and intronic CTG repeat expansions in TCF4 gene to FECD in an Indian cohort. Methods: The cohort consisting of 52 sporadic late-onset cases, 5 early-onset cases, and 148 controls was taken for the study. rs2286812 and rs613872 were genotyped by allele specific polymerase chain reaction (ASPCR) and PCR-based restriction digestion, respectively; rs17595731 and rs9954153 were genotyped by Taqman assay using real-time PCR. The quantitative assessment of the CTG repeat region was performed by PCR/Sanger DNA sequencing. The repeats were assessed qualitatively by short tandem repeat and triplet repeat primed PCR assays. The statistical analysis was performed using two-tailed Fisher's exact probability test. Results: SNPsrs613872 (G/T) for the 'G' allele (P value: 4.57 × 10−5) and rs17595731 (C/T) for the 'C' allele (P value: 1.87 × 10−5), respectively, showed a significant association to sporadic late-onset FECD. CTG repeat expansions were found to be associated with FECD with a P value = 2.4 × 10−3. Conclusion: rs613872, rs17595731, and CTG repeat expansions in intronic region of TCF4 are associated with increased risk of sporadic late-onset FECD in the Indian cohort studied.http://www.ijo.in/article.asp?issn=0301-4738;year=2017;volume=65;issue=10;spage=931;epage=935;aulast=RaoFuchs endothelial corneal dystrophySNPTCF4 genetrinucleotide repeat |
| spellingShingle | Bhavna S Rao Arokiasamy Tharigopala Sudhir R Rachapalli Rama Rajagopal Nagasamy Soumittra Association of polymorphisms in the intron of TCF4 gene to late-onset Fuchs endothelial corneal dystrophy: An Indian cohort study Indian Journal of Ophthalmology Fuchs endothelial corneal dystrophy SNP TCF4 gene trinucleotide repeat |
| title | Association of polymorphisms in the intron of TCF4 gene to late-onset Fuchs endothelial corneal dystrophy: An Indian cohort study |
| title_full | Association of polymorphisms in the intron of TCF4 gene to late-onset Fuchs endothelial corneal dystrophy: An Indian cohort study |
| title_fullStr | Association of polymorphisms in the intron of TCF4 gene to late-onset Fuchs endothelial corneal dystrophy: An Indian cohort study |
| title_full_unstemmed | Association of polymorphisms in the intron of TCF4 gene to late-onset Fuchs endothelial corneal dystrophy: An Indian cohort study |
| title_short | Association of polymorphisms in the intron of TCF4 gene to late-onset Fuchs endothelial corneal dystrophy: An Indian cohort study |
| title_sort | association of polymorphisms in the intron of tcf4 gene to late onset fuchs endothelial corneal dystrophy an indian cohort study |
| topic | Fuchs endothelial corneal dystrophy SNP TCF4 gene trinucleotide repeat |
| url | http://www.ijo.in/article.asp?issn=0301-4738;year=2017;volume=65;issue=10;spage=931;epage=935;aulast=Rao |
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