Investigation of VSX1 Sequence Variants in South Indian Patients with Sporadic Cases of Keratoconus

Overview

Journal BMC Res Notes

Publisher Biomed Central

Specialties Biology
General Medicine

Date 2013 Mar 20

PMID 23506487

Citations 11

Authors

Anshuman Verma

Manoranjan Das

Muthiah Srinivasan

Namperumalsamy V Prajna

Periasamy Sundaresan

Affiliations

Soon will be listed here.

Abstract

Background: The involvement of VSX1 gene for the genetic basis of keratoconus is unclear and controversial. The genetic screening of VSX1 from different ethnic populations can enlighten this subject. The aim of the present study is to investigate the role of VSX1 gene in patients with sporadic cases of keratoconus from South India.

Methods: The VSX1 gene coding regions, including exon-intron boundaries were screened by direct sequencing analysis in 117 sporadic cases of keratoconus. The identified variations were also analyzed in 108 ethnic matched healthy blood donors.

Results: In the VSX1 gene screening, no pathogenic mutation was identified, whereas we could find the presence of four reported single nucleotide polymorphisms; c.546A>G (rs12480307), c.627+23G>A (rs6138482), c.627+84T>A (rs56157240) and c.504-24C>T (IVS3-24C). These variations were observed in similar frequency between cases and controls.

Conclusions: The lack of VSX1 pathogenic variations in a large number of unrelated sporadic keratoconus patients tend to omit its role, and corroborate the involvement of other genetic, environmental or behavioural factors in the development of this complex disorder.

Citing Articles

Systematically Displaying the Pathogenesis of Keratoconus Multi-Level Related Gene Enrichment-Based Review.

Hao X, Gao H, Xu W, Shan C, Liu Y, Zhou Z Front Med (Lausanne). 2022; 8:770138.

PMID: 35141241 PMC: 8818795. DOI: 10.3389/fmed.2021.770138.

Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.

Lucas S, Zhou T, Blackburn N, Mills R, Ellis J, Leo P PLoS One. 2018; 13(6):e0199178.

PMID: 29924831 PMC: 6010250. DOI: 10.1371/journal.pone.0199178.

Analysis of the VSX1 gene in sporadic keratoconus patients from China.

Guan T, Wang X, Zheng L, Wu H, Yao Y BMC Ophthalmol. 2017; 17(1):173.

PMID: 28950846 PMC: 5615802. DOI: 10.1186/s12886-017-0567-3.

Genetic associations for keratoconus: a systematic review and meta-analysis.

Song Rong S, Ma S, Yu X, Ma L, Chu W, Chan T Sci Rep. 2017; 7(1):4620.

PMID: 28676647 PMC: 5496893. DOI: 10.1038/s41598-017-04393-2.

Genomic strategies to understand causes of keratoconus.

Karolak J, Gajecka M Mol Genet Genomics. 2016; 292(2):251-269.

PMID: 28032277 PMC: 5357269. DOI: 10.1007/s00438-016-1283-z.

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