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Role of CYP1B1, p.E229K and p.R368H mutations among 120 families with sporadic juvenile onset open-angle glaucoma.
Gupta, Viney; Somarajan, Bindu I; Walia, Gagandeep Kaur; Kaur, Jasbir; Kumar, Sunil; Gupta, Shikha; Chaurasia, Abadh K; Gupta, Dinesh; Kaushik, Abhinav; Mehta, Aditi; Gupta, Vipin; Sharma, Arundhati.
Afiliación
  • Gupta V; Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, 110029, India. gupta_v20032000@yahoo.com.
  • Somarajan BI; Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, 110029, India.
  • Walia GK; Public Health Foundation of India, Gurgaon, India.
  • Kaur J; Department of Ocular Biochemistry, All India Institute of Medical Sciences, New Delhi, India.
  • Kumar S; Department of Ocular Biochemistry, All India Institute of Medical Sciences, New Delhi, India.
  • Gupta S; Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, 110029, India.
  • Chaurasia AK; Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, 110029, India.
  • Gupta D; International Centre for Genetic Engineering and Biotechnology, New Delhi, India.
  • Kaushik A; International Centre for Genetic Engineering and Biotechnology, New Delhi, India.
  • Mehta A; Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, 110029, India.
  • Gupta V; Department of Anthropology, University of Delhi, New Delhi, India.
  • Sharma A; Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India.
Graefes Arch Clin Exp Ophthalmol ; 256(2): 355-362, 2018 Feb.
Article en En | MEDLINE | ID: mdl-29168043
BACKGROUND: To determine the frequency of CYP1B1 p.E229K and p.R368H, gene mutations in a cohort of sporadic juvenile onset open-angle glaucoma (JOAG) patients and to evaluate their genotype/phenotype correlation. METHODS: Unrelated JOAG patients whose first-degree relatives had been examined and found to be unaffected were included in the study. The patients and their parents were screened for p.E229K and p.R368H mutations. The phenotypic characteristics were compared between probands carrying the mutations and those who did not carry these mutations. RESULTS: Out of 120 JOAG patients included in the study, the p.E229K mutation was seen in 9 probands (7.5%) and p.R368H in 7 (5.8%). The average age of onset of the disease (p = 0.3) and the highest untreated IOP (p = 0.4) among those carrying mutations was not significantly different from those who did not have these mutations. The proportion of probands with angle dysgenesis among those with p.E229K and p.R368H mutations was 70% (11 out of 16) in comparison to 65% (67 out of 104) of those who did not harbour these mutations (p = 0.56). Similarly, the probands with moderate to high myopia among those with p.E229K and p.R368H mutations was 20% (3 out of 16) in comparison to 18% (18 out of 104) of those who did not harbour these mutations (p = 0.59). CONCLUSION: The frequency of p.E229K and p.R368H mutations of the CYP1B1 gene is low even among sporadic JOAG patients. Moreover, there is no clinical correlation between the presence of these mutations and disease severity.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN / Glaucoma de Ángulo Abierto / Predisposición Genética a la Enfermedad / Citocromo P-450 CYP1B1 / Presión Intraocular / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Graefes Arch Clin Exp Ophthalmol Año: 2018 Tipo del documento: Article País de afiliación: India Pais de publicación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN / Glaucoma de Ángulo Abierto / Predisposición Genética a la Enfermedad / Citocromo P-450 CYP1B1 / Presión Intraocular / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Graefes Arch Clin Exp Ophthalmol Año: 2018 Tipo del documento: Article País de afiliación: India Pais de publicación: Alemania