دورية أكاديمية
Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis).
| العنوان: | Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis). |
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| المؤلفون: | Wiggs JL; Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston Massachusetts., Langgurth AM; Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston Massachusetts., Allen KF; Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston Massachusetts. |
| المصدر: | Transactions of the American Ophthalmological Society [Trans Am Ophthalmol Soc] 2014 Jul; Vol. 112, pp. 94-102. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: American Ophthalmological Society Country of Publication: United States NLM ID: 7506106 Publication Model: Print Cited Medium: Internet ISSN: 1545-6110 (Electronic) Linking ISSN: 00659533 NLM ISO Abbreviation: Trans Am Ophthalmol Soc Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: San Francisco, CA : American Ophthalmological Society Original Publication: Rochester, Minn., Whiting Press [etc.] |
| مواضيع طبية MeSH: | Gene Frequency* , Mutation*, Cytochrome P-450 CYP1B1/*genetics , Glaucoma/*genetics, Adult ; Aged ; Cross-Sectional Studies ; DNA Mutational Analysis ; Female ; Glaucoma/epidemiology ; Humans ; Male ; Middle Aged ; Prevalence ; Prospective Studies ; United States/epidemiology |
| مستخلص: | Purpose: CYP1B1 mutations cause autosomal recessive congenital glaucoma. Disease risk assessment for families with CYP1B1 mutations requires knowledge of the population mutation carrier frequency. The purpose of this study is to determine the CYP1B1 mutation carrier frequency in clinically normal individuals residing in the United States. Because CYP1B1 mutations can exhibit variable expressivity, we hypothesize that the mutation carrier frequency is higher than expected. Methods: Two hundred fifty individuals without glaucoma or a family history of glaucoma were enrolled. CYP1B1 mutations were identified by DNA sequencing, and pathogenicity was estimated by PolyPhen-2 or a previous report of disease causality. Results: Based on the disease frequency (1 in 10,000) and prevalence of CYP1B1-related congenital glaucoma (15% to 20%), the frequency of CYP1B1-related congenital glaucoma in the United States is approximately 1 in 50,000. Assuming Hardy-Weinberg equilibrium, the expected CYP1B1 mutation carrier frequency would be 1 in 112, or 0.89%. Among the 250 study participants, 11 (4.4%) are carriers of a single pathogenic mutation, representing a carrier frequency of 1 in 22, which is 5.1 times the expected frequency. A higher-than-expected carrier frequency (1 in 33, 3.0%) was also observed in 4300 white individuals sequenced by the National Heart Lung and Blood Institute Exome Sequencing Project. Conclusions: Our results show that the CYP1B1 mutation carrier frequency in the US population is between 1 in 22 and 1 in 33, which is 5.1 to 3.4 times the expected frequency. These results suggest that more individuals than expected are carriers of a deleterious CYP1B1 mutation, and that the prevalence of CYP1B1-related disease may be higher than expected. |
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| معلومات مُعتمدة: | EY015872 United States EY NEI NIH HHS; EY009847 United States EY NEI NIH HHS; P30 EY014104 United States EY NEI NIH HHS; R01 EY015872 United States EY NEI NIH HHS; R01 EY009847 United States EY NEI NIH HHS |
| المشرفين على المادة: | EC 1.14.14.1 (CYP1B1 protein, human) EC 1.14.14.1 (Cytochrome P-450 CYP1B1) |
| تواريخ الأحداث: | Date Created: 20150204 Date Completed: 20150803 Latest Revision: 20181113 |
| رمز التحديث: | 20240829 |
| مُعرف محوري في PubMed: | PMC4311669 |
| PMID: | 25646030 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1545-6110 |
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