Estimating the age of the p.Cys433Arg variant in the MYOC gene in patients with primary open-angle glaucoma

Ana Marques; Galina  Ananina; Vital Paulino  Costa; José Paulo  Cabral de Vasconcellos; Mônica  Barbosa de Melo

doi:10.1371/journal.pone.0207409

Estimating the age of the p.Cys433Arg variant in the MYOC gene in patients with primary open-angle glaucoma

Ana Marques
, Galina Ananina
, Vital Paulino Costa
, José Paulo Cabral de Vasconcellos
, Mônica Barbosa de Melo^*

^*Corresponding author for this work

Center for Molecular Biology and Genetic Engineering (CBMEG)

Research output: Contribution to journal › Article › Academic › peer-review

7 Citations (Scopus)

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Abstract

The aim of this study was to estimate the age of the Cys433Arg (c.1297T>C, p.Cys433Arg) variant by comparing the genotypes of individuals affected and not affected by primary open angle glaucoma juvenile onset (JOAG). Our sample consisted of 35 JOAG-affected individuals from three families, 16 unrelated patients with the MYOC p.Cys433Arg variant and 16 unaffected individuals. Genomic DNA was amplified by PCR; nine short tandem repeats were genotyped through automated electrophoresis and three single nucleotide polymorphisms through Sanger sequencing. The determination of haplotypes was performed using Arlequin software and age estimation was performed using DMLE+ 2.3 and BDMC21 softwares. Four markers constituted the haplotypes associated with the p.Cys433Arg variant. The software DMLE+2.3 predicted an age of 43 generations for this variant with a 95% confidence interval ranging from 28 to 76 generations (560–1520 years) and BDMC21 predicted an age of 59 generations (1180 years) (95% CI: 40 to 100).

Original language	English
Journal	PLoS ONE
DOIs	https://doi.org/10.1371/journal.pone.0207409
Publication status	Published - 16 Nov 2018
Externally published	Yes

Bibliographical note

Funding: This work was supported by Jose´ Paulo Cabral de Vasconcellos (JPCV), São Paulo Research Foundation (FAPESP) grant 2002/11575- 0, URL: http://www.fapesp.br/; Moˆnica Barbosa de Melo (MBM), São Paulo Research Foundation (FAPESP) grant 2010/18353-9, URL: http://www.fapesp.br/; Ana Maria Marques (AMM),

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Estimating the age Final published version, 1.24 MBLicence: CC BY

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title = "Estimating the age of the p.Cys433Arg variant in the MYOC gene in patients with primary open-angle glaucoma",

abstract = "The aim of this study was to estimate the age of the Cys433Arg (c.1297T>C, p.Cys433Arg) variant by comparing the genotypes of individuals affected and not affected by primary open angle glaucoma juvenile onset (JOAG). Our sample consisted of 35 JOAG-affected individuals from three families, 16 unrelated patients with the MYOC p.Cys433Arg variant and 16 unaffected individuals. Genomic DNA was amplified by PCR; nine short tandem repeats were genotyped through automated electrophoresis and three single nucleotide polymorphisms through Sanger sequencing. The determination of haplotypes was performed using Arlequin software and age estimation was performed using DMLE+ 2.3 and BDMC21 softwares. Four markers constituted the haplotypes associated with the p.Cys433Arg variant. The software DMLE+2.3 predicted an age of 43 generations for this variant with a 95\% confidence interval ranging from 28 to 76 generations (560–1520 years) and BDMC21 predicted an age of 59 generations (1180 years) (95\% CI: 40 to 100).",

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note = "Funding: This work was supported by Jose´ Paulo Cabral de Vasconcellos (JPCV), S{\~a}o Paulo Research Foundation (FAPESP) grant 2002/11575- 0, URL: http://www.fapesp.br/; Moˆnica Barbosa de Melo (MBM), S{\~a}o Paulo Research Foundation (FAPESP) grant 2010/18353-9, URL: http://www.fapesp.br/; Ana Maria Marques (AMM),",

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AU - Marques, Ana

AU - Ananina, Galina

AU - Costa, Vital Paulino

AU - Cabral de Vasconcellos, José Paulo

AU - Barbosa de Melo, Mônica

N1 - Funding: This work was supported by Jose´ Paulo Cabral de Vasconcellos (JPCV), São Paulo Research Foundation (FAPESP) grant 2002/11575- 0, URL: http://www.fapesp.br/; Moˆnica Barbosa de Melo (MBM), São Paulo Research Foundation (FAPESP) grant 2010/18353-9, URL: http://www.fapesp.br/; Ana Maria Marques (AMM),

PY - 2018/11/16

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N2 - The aim of this study was to estimate the age of the Cys433Arg (c.1297T>C, p.Cys433Arg) variant by comparing the genotypes of individuals affected and not affected by primary open angle glaucoma juvenile onset (JOAG). Our sample consisted of 35 JOAG-affected individuals from three families, 16 unrelated patients with the MYOC p.Cys433Arg variant and 16 unaffected individuals. Genomic DNA was amplified by PCR; nine short tandem repeats were genotyped through automated electrophoresis and three single nucleotide polymorphisms through Sanger sequencing. The determination of haplotypes was performed using Arlequin software and age estimation was performed using DMLE+ 2.3 and BDMC21 softwares. Four markers constituted the haplotypes associated with the p.Cys433Arg variant. The software DMLE+2.3 predicted an age of 43 generations for this variant with a 95% confidence interval ranging from 28 to 76 generations (560–1520 years) and BDMC21 predicted an age of 59 generations (1180 years) (95% CI: 40 to 100).

AB - The aim of this study was to estimate the age of the Cys433Arg (c.1297T>C, p.Cys433Arg) variant by comparing the genotypes of individuals affected and not affected by primary open angle glaucoma juvenile onset (JOAG). Our sample consisted of 35 JOAG-affected individuals from three families, 16 unrelated patients with the MYOC p.Cys433Arg variant and 16 unaffected individuals. Genomic DNA was amplified by PCR; nine short tandem repeats were genotyped through automated electrophoresis and three single nucleotide polymorphisms through Sanger sequencing. The determination of haplotypes was performed using Arlequin software and age estimation was performed using DMLE+ 2.3 and BDMC21 softwares. Four markers constituted the haplotypes associated with the p.Cys433Arg variant. The software DMLE+2.3 predicted an age of 43 generations for this variant with a 95% confidence interval ranging from 28 to 76 generations (560–1520 years) and BDMC21 predicted an age of 59 generations (1180 years) (95% CI: 40 to 100).

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DO - 10.1371/journal.pone.0207409

M3 - Article

C2 - 30444892

SN - 1932-6203

JO - PLoS ONE

JF - PLoS ONE

ER -

Estimating the age of the p.Cys433Arg variant in the MYOC gene in patients with primary open-angle glaucoma

Abstract

Bibliographical note

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