Association of FOXE3-p.Ala170Ala and PITX3-p.Ile95Ile polymorphisms with congenital cataract and microphthalmia
Purpose: To investigate the association of FOXE3-p.Ala170Ala (rs34082359) and PITX3-p.Ile95Ile (rs2281983) polymorphisms with congenital cataract and microphthalmia in a western Indian population. Methods: FOXE3-p.Ala170Ala (c.510C>T) and PITX3-p.Ile95Ile (c.285C>T) polymorphisms were genotype...
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| Format: | Article |
| Language: | English |
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Knowledge E
2018-01-01
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| Series: | Journal of Ophthalmic & Vision Research |
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| Online Access: | http://www.jovr.org/article.asp?issn=2008-322X;year=2018;volume=13;issue=4;spage=397;epage=402;aulast=Vidya |
| _version_ | 1811249692983427072 |
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| author | Nair Gopinathan Vidya Darshini Ganatra Abhay R Vasavada Sankaranarayanan Rajkumar |
| author_facet | Nair Gopinathan Vidya Darshini Ganatra Abhay R Vasavada Sankaranarayanan Rajkumar |
| author_sort | Nair Gopinathan Vidya |
| collection | DOAJ |
| description | Purpose: To investigate the association of FOXE3-p.Ala170Ala (rs34082359) and PITX3-p.Ile95Ile (rs2281983) polymorphisms with congenital cataract and microphthalmia in a western Indian population.
Methods: FOXE3-p.Ala170Ala (c.510C>T) and PITX3-p.Ile95Ile (c.285C>T) polymorphisms were genotyped in 561 subjects consisting of 242 cases with congenital cataract, 52 with microphthalmia, and 267 controls using polymerase chain reaction-restriction fragment length polymorphism. Approximately 10% of samples were randomly sequenced for each single nucleotide polymorphism to confirm the genotypes. The prediction of mRNA secondary structure for polymorphism FOXE3-p.Ala170Ala and PITX3-p.Ile95Ile was performed.
Results: A significantly high frequency of T allele and a borderline significance in the frequency of TT genotype of FOXE3-p.Ala170Ala was observed in microphthalmia cases, as compared to controls [T allele: OR: [CI] = 1.8 [1.15-2.72], P = 0.0115; TT: OR [CI] = 2.9 [1.14-7.16], P = 0.0291). The frequency of CC genotype was significantly low in microphthalmia cases when compared to controls (CC: OR [CI] = 0.5 [0.24-0.86, P = 0.0150). There was no significant difference in the allele and genotype frequencies of PITX3-p.Ile95Ile between cases and controls. A slight free energy change was observed in the secondary structure of mRNA between the FOXE3-p.Ala170Ala C-allele (-917.60 kcal/mol) and T-allele (-916.80 kcal/mol) and between PITX3-p.Ile95Ile C-allele (-659.80 kcal/mol) and T-allele (-658.40 kcal/mol).
Conclusion: The present findings indicate that FOXE3-p.Ala170Ala 'T' allele and 'TT' genotype could be predisposing factors for microphthalmia while 'CC' genotype might play a protective role against it. A reduction in the free energy change associated with FOXE3-p.Ala170Ala 'T' allele could further contribute towards disease risk. |
| first_indexed | 2024-04-12T15:52:02Z |
| format | Article |
| id | doaj.art-ad3b27e5c4954d3985d720728fa40112 |
| institution | Directory Open Access Journal |
| issn | 2008-322X |
| language | English |
| last_indexed | 2024-04-12T15:52:02Z |
| publishDate | 2018-01-01 |
| publisher | Knowledge E |
| record_format | Article |
| series | Journal of Ophthalmic & Vision Research |
| spelling | doaj.art-ad3b27e5c4954d3985d720728fa401122022-12-22T03:26:29ZengKnowledge EJournal of Ophthalmic & Vision Research2008-322X2018-01-0113439740210.4103/jovr.jovr_193_17Association of FOXE3-p.Ala170Ala and PITX3-p.Ile95Ile polymorphisms with congenital cataract and microphthalmiaNair Gopinathan VidyaDarshini GanatraAbhay R VasavadaSankaranarayanan RajkumarPurpose: To investigate the association of FOXE3-p.Ala170Ala (rs34082359) and PITX3-p.Ile95Ile (rs2281983) polymorphisms with congenital cataract and microphthalmia in a western Indian population. Methods: FOXE3-p.Ala170Ala (c.510C>T) and PITX3-p.Ile95Ile (c.285C>T) polymorphisms were genotyped in 561 subjects consisting of 242 cases with congenital cataract, 52 with microphthalmia, and 267 controls using polymerase chain reaction-restriction fragment length polymorphism. Approximately 10% of samples were randomly sequenced for each single nucleotide polymorphism to confirm the genotypes. The prediction of mRNA secondary structure for polymorphism FOXE3-p.Ala170Ala and PITX3-p.Ile95Ile was performed. Results: A significantly high frequency of T allele and a borderline significance in the frequency of TT genotype of FOXE3-p.Ala170Ala was observed in microphthalmia cases, as compared to controls [T allele: OR: [CI] = 1.8 [1.15-2.72], P = 0.0115; TT: OR [CI] = 2.9 [1.14-7.16], P = 0.0291). The frequency of CC genotype was significantly low in microphthalmia cases when compared to controls (CC: OR [CI] = 0.5 [0.24-0.86, P = 0.0150). There was no significant difference in the allele and genotype frequencies of PITX3-p.Ile95Ile between cases and controls. A slight free energy change was observed in the secondary structure of mRNA between the FOXE3-p.Ala170Ala C-allele (-917.60 kcal/mol) and T-allele (-916.80 kcal/mol) and between PITX3-p.Ile95Ile C-allele (-659.80 kcal/mol) and T-allele (-658.40 kcal/mol). Conclusion: The present findings indicate that FOXE3-p.Ala170Ala 'T' allele and 'TT' genotype could be predisposing factors for microphthalmia while 'CC' genotype might play a protective role against it. A reduction in the free energy change associated with FOXE3-p.Ala170Ala 'T' allele could further contribute towards disease risk.http://www.jovr.org/article.asp?issn=2008-322X;year=2018;volume=13;issue=4;spage=397;epage=402;aulast=VidyaCongenital Cataract; Forkhead Box E3; Microphthalmia; Paired-like Domain Transcription Factor 3 |
| spellingShingle | Nair Gopinathan Vidya Darshini Ganatra Abhay R Vasavada Sankaranarayanan Rajkumar Association of FOXE3-p.Ala170Ala and PITX3-p.Ile95Ile polymorphisms with congenital cataract and microphthalmia Journal of Ophthalmic & Vision Research Congenital Cataract; Forkhead Box E3; Microphthalmia; Paired-like Domain Transcription Factor 3 |
| title | Association of FOXE3-p.Ala170Ala and PITX3-p.Ile95Ile polymorphisms with congenital cataract and microphthalmia |
| title_full | Association of FOXE3-p.Ala170Ala and PITX3-p.Ile95Ile polymorphisms with congenital cataract and microphthalmia |
| title_fullStr | Association of FOXE3-p.Ala170Ala and PITX3-p.Ile95Ile polymorphisms with congenital cataract and microphthalmia |
| title_full_unstemmed | Association of FOXE3-p.Ala170Ala and PITX3-p.Ile95Ile polymorphisms with congenital cataract and microphthalmia |
| title_short | Association of FOXE3-p.Ala170Ala and PITX3-p.Ile95Ile polymorphisms with congenital cataract and microphthalmia |
| title_sort | association of foxe3 p ala170ala and pitx3 p ile95ile polymorphisms with congenital cataract and microphthalmia |
| topic | Congenital Cataract; Forkhead Box E3; Microphthalmia; Paired-like Domain Transcription Factor 3 |
| url | http://www.jovr.org/article.asp?issn=2008-322X;year=2018;volume=13;issue=4;spage=397;epage=402;aulast=Vidya |
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