Evidence for a Graves’ Disease Susceptibility Locus at Chromosome Xp11 in a United Kingdom Population1
| Autor: | Pat Kendall-Taylor, William F. Kelly, Helen Imrie, Petros Perros, Anthony Toft, E. T. Young, Simon H. S. Pearce, Bijayeswar Vaidya |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
Genetics
education.field_of_study business.industry Endocrinology Diabetes and Metabolism Graves' disease Biochemistry (medical) Clinical Biochemistry Population Chromosome Locus (genetics) medicine.disease Biochemistry Genetic determinism Endocrinology Genetic linkage Epistasis Medicine education business X chromosome |
| Zdroj: | The Journal of Clinical Endocrinology & Metabolism. 86:626-630 |
| ISSN: | 1945-7197 0021-972X |
| DOI: | 10.1210/jcem.86.2.7191 |
| Popis: | Graves’ disease (GD), which has a strong female preponderance (female/male ratio, >5:1), is inherited as a complex genetic trait. Loci for GD have started to be defined using genome-wide approaches for genetic linkage. To date, 3 loci have been confirmed in at least 2 cohorts of GD patients, the strongest effect being at the cytotoxic T lymphocyte antigen-4 (CTLA-4) locus on chromosome 2q33 in our population. Two other loci for GD have recently been proposed, but not confirmed, on chromosomes Xq21 (GD3) and 14q31 (GD1). We studied a cohort of 75 sibling pairs with GD from the United Kingdom for linkage to 12 markers over a 83-cM region of the X chromosome and for 8 markers over a 36-cM region of 14q31-q33. A peak multipoint nonparametric linkage score of 2.21 (P = 0.014) was found at marker DXS8083 on Xp11, which increased to a nonparametric linkage score of 3.18 (P = 0.001) in data that had been conditioned for allele sharing at the CTLA-4 locus under an epistatic model. There was no evidence to support ... |
| Databáze: | OpenAIRE |
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