Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians
| Autor: | Rachel Morissette, Meredith Elman, Toni R Prezant, Ninet Sinaii, Fady Hannah-Shmouni, Deborah P. Merke, Wuyan Chen, Ann E. Pulver |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Infertility medicine.medical_specialty Pediatrics congenital hereditary and neonatal diseases and abnormalities Heterozygote endocrine system diseases Genotyping Techniques prevalence 030209 endocrinology & metabolism Disease White People 03 medical and health sciences 0302 clinical medicine Gene Frequency Internal medicine medicine congenital adrenal hyperplasia Humans Congenital adrenal hyperplasia Allele frequency Genotyping Genetics (clinical) Adrenal Hyperplasia Congenital business.industry Brief Report Hyperandrogenism nutritional and metabolic diseases medicine.disease Confidence interval Ashkenazi jews United States Ashkenazi Jews 030104 developmental biology Endocrinology Jews nonclassic Mutation Steroid 21-Hydroxylase business infertility |
| Zdroj: | Genetics in Medicine |
| ISSN: | 1530-0366 1098-3600 |
| Popis: | Purpose Nonclassic 21-hydroxylase deficiency, a mild form of congenital adrenal hyperplasia (CAH), is estimated to be the most common autosomal recessive condition, with an especially high prevalence in Ashkenazi Jews (3.7% affected, 30.9% carriers), based on a 1985 HLA-B linkage study of affected families. Affected individuals, especially women, may suffer from hyperandrogenism and infertility. State-of-the-art genetic studies have not been done to confirm these remarkable rates. Methods CYP21A2 genotyping was performed in 200 unrelated healthy Ashkenazi Jewish subjects and 200 random US Caucasians who did not self-identify as a specific ethnicity using multiplex minisequencing, real-time polymerase chain reaction and junction site analysis. Results Nonclassic CAH carriership was found similarly in 15% (95% confidence interval (CI): 10.4–20.7) of Ashkenazi Jews and 9.5% (95% CI: 5.8–14.4) of Caucasians (P=0.13). The proportion of Ashkenazi Jewish nonclassic CAH carriers (0.15 versus 0.309, P |
| Databáze: | OpenAIRE |
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