Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus

Lopes, Alessandro Garcia; Almeida, Gildásio Castello de; Miola, Marcos Paulo; Teixeira, Ronan Marques; Pires, Francielly Camilla Bazilio Laurindo; Miani, Rodolfo Andrade; Mattos, Luiz Carlos de; Mattos, Cinara Cássia Brandão de; Castiglioni, Lilian

doi:10.1080/13816810.2021.1992785

Cited by 2 publications

(1 citation statement)

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“…The higher concordance rate in monozygotic twins (Tuft et al, 2012), and a positive family history of 5%-23% in KC cases (Rabinowitz et al, 2021) suggested a strong genetic component in the development of KC. Indeed, many researchers have identified KC susceptibility genes by genome-wide association studies (Hosoda et al, 2020;Hardcastle et al, 2021), linkage studies (Hughes et al, 2011;Karolak et al, 2015) and candidate gene sequencing analyses (Abdelghany et al, 2021;Lopes et al, 2021). The genetic studies on KC significantly contributed to the biological basis of its pathogenesis.…”

Section: Introductionmentioning

confidence: 99%

Family-based exome sequencing identifies candidate genes related to keratoconus in Chinese families

Yang

Yin

et al. 2022

Front. Genet.

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Background: Keratoconus (KC) is a complex corneal disorder with a strong genetic component. The present study aimed to identify candidate genes related to KC in Chinese families.Methods: Family-based exome sequencing was performed in ten patients suffering from KC who belong to five families with two affected members in each. The candidate rare variants were identified with multi-step bioinformatics analysis. The STRING website was used to perform the protein interaction of the identified genes.Results: Our analyses identified 32 candidate rare variants in 13 genes by family-based exome sequencing. The molecular analyses of identified genes showed that EPCAM directly interacted with CTNNB1 of the Hippo signaling pathway and focal adhesion pathway, and directly interacted with CTNNB1, CDH1 of the WNT signaling pathway. SHROOM3 directly interacted with ROCK2, ROCK1 of the focal adhesion pathway. SYNE1 directly interacted with MUSK of the extracellular matrix organization pathway. TEK directly interacted with VEGFA, SHC1, PIK3R1, GRB2 of the focal adhesion pathway. TTN directly interacted with CAPN3 of the extracellular matrix organization pathway.Conclusion: The EPCAM, SHROOM3, SYNE1, TEK, and TTN genes were potential high-risk candidate pathogenic genes of familial KC. The findings might significantly improve our understanding of the genetic etiology of the disease, providing novel insights on KC pathogenesis.

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