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Sex Bias in Primary Congenital Glaucoma Patients with and without CYP1B1 Mutations

PURPOSE: To investigate variations in sex ratio among Iranian primary congenital glaucoma (PCG) patients with and without mutations in the CYP1B1 gene and to evaluate possible clinical variations associated with sex in these two groups. METHODS: Phenotypical data on 104 unrelated Iranian PCG patient...

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Autores principales: Suri, Fatemeh, Chitsazian, Fereshteh, Khoramian-Tusi, Betsabeh, Amini, Heidar, Yazdani, Shahin, Nilforooshan, Naveed, Zargar, S. Jalal, Elahi, Elahe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ophthalmic Research Center 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3498552/
https://www.ncbi.nlm.nih.gov/pubmed/23198051
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author Suri, Fatemeh
Chitsazian, Fereshteh
Khoramian-Tusi, Betsabeh
Amini, Heidar
Yazdani, Shahin
Nilforooshan, Naveed
Zargar, S. Jalal
Elahi, Elahe
author_facet Suri, Fatemeh
Chitsazian, Fereshteh
Khoramian-Tusi, Betsabeh
Amini, Heidar
Yazdani, Shahin
Nilforooshan, Naveed
Zargar, S. Jalal
Elahi, Elahe
author_sort Suri, Fatemeh
collection PubMed
description PURPOSE: To investigate variations in sex ratio among Iranian primary congenital glaucoma (PCG) patients with and without mutations in the CYP1B1 gene and to evaluate possible clinical variations associated with sex in these two groups. METHODS: Phenotypical data on 104 unrelated Iranian PCG patients who had previously been screened for CYP1B1 mutations were analyzed. Emphasis was placed on analysis of sex ratios among patients with and without CYP1B1 mutations. In addition to sex, familial and sporadic incidence and clinical features including age at onset, bilateral/unilateral involvement, corneal diameter, intraocular pressure, and cup-disc ratios were compared between these two groups. Information on phenotypical parameters was available for most but not all patients. RESULTS: Among the 93 PCG patients whose sex was recorded, 57 were male (61.3%) and 36 were female (38.7%) (P=0.03). Patients with CYP1B1 mutations included 37 male (66.1%) and 29 female (43.9%) subjects (P=0.30), while patients without the mutation included 20 (74.1%) male and 7 (25.9%) female individuals (P=0.013). Our data did not provide conclusive evidence on difference in severity of the disease between those with and without CYP1B1 mutations, nor between the two sexes. CONCLUSION: Consistent with data on PCG patients from other populations, the overall incidence of PCG in Iran seems to be higher among male subjects. The difference in incidence between the two sexes was not significant among patients whose disease was due to mutations in CYP1B1. The overall higher incidence of PCG among male subjects seems to be attributable to a higher incidence in male patients not harboring CYP1B1 mutations, suggesting that other genes or factors may be involved in manifestation of PCG phenotypes in a sex dependent manner.
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spelling pubmed-34985522012-11-29 Sex Bias in Primary Congenital Glaucoma Patients with and without CYP1B1 Mutations Suri, Fatemeh Chitsazian, Fereshteh Khoramian-Tusi, Betsabeh Amini, Heidar Yazdani, Shahin Nilforooshan, Naveed Zargar, S. Jalal Elahi, Elahe J Ophthalmic Vis Res Original Article PURPOSE: To investigate variations in sex ratio among Iranian primary congenital glaucoma (PCG) patients with and without mutations in the CYP1B1 gene and to evaluate possible clinical variations associated with sex in these two groups. METHODS: Phenotypical data on 104 unrelated Iranian PCG patients who had previously been screened for CYP1B1 mutations were analyzed. Emphasis was placed on analysis of sex ratios among patients with and without CYP1B1 mutations. In addition to sex, familial and sporadic incidence and clinical features including age at onset, bilateral/unilateral involvement, corneal diameter, intraocular pressure, and cup-disc ratios were compared between these two groups. Information on phenotypical parameters was available for most but not all patients. RESULTS: Among the 93 PCG patients whose sex was recorded, 57 were male (61.3%) and 36 were female (38.7%) (P=0.03). Patients with CYP1B1 mutations included 37 male (66.1%) and 29 female (43.9%) subjects (P=0.30), while patients without the mutation included 20 (74.1%) male and 7 (25.9%) female individuals (P=0.013). Our data did not provide conclusive evidence on difference in severity of the disease between those with and without CYP1B1 mutations, nor between the two sexes. CONCLUSION: Consistent with data on PCG patients from other populations, the overall incidence of PCG in Iran seems to be higher among male subjects. The difference in incidence between the two sexes was not significant among patients whose disease was due to mutations in CYP1B1. The overall higher incidence of PCG among male subjects seems to be attributable to a higher incidence in male patients not harboring CYP1B1 mutations, suggesting that other genes or factors may be involved in manifestation of PCG phenotypes in a sex dependent manner. Ophthalmic Research Center 2009-04 /pmc/articles/PMC3498552/ /pubmed/23198051 Text en
spellingShingle Original Article
Suri, Fatemeh
Chitsazian, Fereshteh
Khoramian-Tusi, Betsabeh
Amini, Heidar
Yazdani, Shahin
Nilforooshan, Naveed
Zargar, S. Jalal
Elahi, Elahe
Sex Bias in Primary Congenital Glaucoma Patients with and without CYP1B1 Mutations
title Sex Bias in Primary Congenital Glaucoma Patients with and without CYP1B1 Mutations
title_full Sex Bias in Primary Congenital Glaucoma Patients with and without CYP1B1 Mutations
title_fullStr Sex Bias in Primary Congenital Glaucoma Patients with and without CYP1B1 Mutations
title_full_unstemmed Sex Bias in Primary Congenital Glaucoma Patients with and without CYP1B1 Mutations
title_short Sex Bias in Primary Congenital Glaucoma Patients with and without CYP1B1 Mutations
title_sort sex bias in primary congenital glaucoma patients with and without cyp1b1 mutations
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3498552/
https://www.ncbi.nlm.nih.gov/pubmed/23198051
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