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Genome-wide linkage analysis reveals evidence for four new susceptibility loci for familial euthyroid goiter

Item Type:Article
Title:Genome-wide linkage analysis reveals evidence for four new susceptibility loci for familial euthyroid goiter
Creators Name:Bayer, Y. and Neumann, S. and Meyer, B. and Rueschendorf, F. and Reske, A. and Brix, T. and Hegedues, L. and Langer, P. and Nuernberg, P. and Paschke, R.
Abstract:Euthyroid goiter is characterized by diffuse or nodular enlargement of the thyroid gland. Iodine deficiency and cigarette smoking have been identified as important environmental factors. However, family and twin pair studies suggest a strong genetic predisposition. Therefore, we performed the first extended genome-wide scan to identify susceptibility loci that predispose for euthyroid goiter using 450 microsatellite markers in 18 extended Danish, German, and Slovakian families. Parametric and nonparametric multipoint linkage analyses were performed. The highest nonparametric LOD scores were obtained for chromosomes 2q and 3p with values of 2.54 at B2S1363 and 2.25 at D3S3038, respectively. Assuming heterogeneity and dominant inheritance, heterogeneity LOD scores (HLOD) of 2.71 and 1.94 were calculated for 2q and 3p, respectively. Furthermore, nonparametric LOD scores of 1.87 (HLOD 1.39) at D7S1808 on 7q and 1.79 (HLOD 1.80) at D8S264 on 8p were obtained. Haplotyping of families contributing to the linkage signals revealed four families compatible with a putative locus on 3p and one family each showing strict cosegregation with the loci on 2q, 7q, and 8p. The four novel candidate loci corroborate the assumed heterogeneity in the etiology of euthyroid familial goiter. For the first time, a more prevalent putative locus, present in 20% of the families investigated, was identified.
Keywords:Chromosome Mapping, Genetic Heterogeneity, Genetic Predisposition to Disease, Goiter, Haplotypes, Human Genome, Linkage, Lod Score, Microsatellite Repeats, Pair 2 Human Chromosomes, Pair 3 Human Chromosomes, Pair 7 Human Chromosomes, Pair 8 Human Chromosomes, Pedigree
Source:Journal of Clinical Endocrinology and Metabolism
ISSN:0021-972X
Publisher:Endocrine Society (U.S.A.)
Volume:89
Number:8
Page Range:4044-4052
Date:1 January 2004
Official Publication:https://doi.org/10.1210/jc.2003-032096
PubMed:View item in PubMed

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