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

Journal of Clinical Endocrinology and Metabolism

Volumn 89, Issue 8, 2004, Pages 4044-4052

  Bayer, Yvonne ^a   Neumann, Susanne ^a   Meyer, Birgit ^b   Rüschendorf, Franz ^b   Reske, Andreas ^a   Brix, Thomas ^c   Hegedüs, Laszlo ^c   Langer, Pavel ^d   Nürnberg, Peter ^b,e   Paschke, Ralf ^a  

^a UNIVERSITY OF LEIPZIG   (Germany)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^c ODENSE UNIVERSITY HOSPITAL   (Denmark)

^d P J AFÁRIK UNIVERSITY   (Slovakia)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 2Q; CHROMOSOME 3P; CONTROLLED STUDY; FAMILIAL DISEASE; GENE LOCUS; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC PREDISPOSITION; HAPLOTYPE; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MICROSATELLITE MARKER; NODULAR GOITER; PRIORITY JOURNAL; SCORING SYSTEM;

ADULT; AGED; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 3; CHROMOSOMES, HUMAN, PAIR 7; CHROMOSOMES, HUMAN, PAIR 8; FEMALE; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; GOITER; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; PEDIGREE;

EID: 4043161584     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2003-032096     Document Type: Article

References (43)

1. Hampel R, Gordalla A, Zollner H, Klinke D, Demuth M 2000 Continuous rise of urinary iodine excretion and drop in thyroid gland size among adolescents in Mecklenbuig-West-Pomerania from 1993 to 1997. Exp Clin Endocrinol Diabetes 108:197-201
2. Hampel R, Beyersdorf-Radeck B, Below H, Demuth M, Seelig K 2001 [Urinary iodine levels within normal range in German school-age children]. Med Klin 96:125-128 (German)
3. Hegedüs L, Bonnema SJ, Bennedbaek FN 2003 Management of simple nodular goiter: current status and future perspectives. Endocr Rev 24:102-132
4. Rendl J, Juhran N, Reiners C 2001 Thyroid volumes and urinary iodine in German school children. Exp Clin Endocrinol Diabetes 109:8-12
5. Brix TH, Hegedüs L 2000 Genetic and environmental factors in the aetiology of simple goitre. Ann Med 32:153-156
6. Bignell GR, Canzian F, Shayeghi M, Stark M, Shugart YY, Biggs P, Mangion J, Hamoudi R, Rosenblatt J, Buu P, Sun S, Stoffer SS, Goldgar DE, Romeo G, Houlston RS, Narod SA, Stratton MR, Foulkes WD 1997 Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer. Am J Hum Genet 61:1123-1130
7. Capon F, Tacconelli A, Giardina E, Sciacchitano S, Bruno R, Tassi V, Trischitta V, Filetti S, Dallapiccola B, Novelli G 2000 Mapping a dominant form of multinodular goiter to chromosome Xp22. Am J Hum Genet 67: 1004-1007
8. - symporter. J Clin Endocrinol Metab 84:3750-3756
9. Neumann S, Bayer Y, Reske A, Tajtakova M, Langer P, Paschke R 2003 Further indications for genetic heterogeneity of euthyroid familial goiter. J Mol Med 81:736-745
10. Brix TH, Kyvik KO, Hegedüs L 1999 Major role of genes in the etiology of simple goiter in females: a population-based twin study. J Clin Endocrinol Metab 84:3071-3075
11. Malamos B, Koutras DA, Kostantis P 1967 Endemic goitre in Greece: a study of 379 twin pairs. J Med Genet 4:16-18
12. Podoba J, Tajtakova M, Langer P, Dluholucky S, Kost'alova L, Lichardus B, Kaplanova M, Chudikova K, Truskova I, Perrasko J 2003 First symposium of ICCIDD west-central Europe. J Endocrinol Invest 26(Suppl 9):1-62
13. Gärtner R, Manz F, Grossklaus R 2001 Representative data of iodine intake and urinary excretion in Germany. Exp Clin Endocrinol Diabetes 109:2-7
14. Gärtner R 2003 First symposium of ICCIDD west-central Europe. J Endocrinol Invest 26(Suppl 9):1-62
15. Laurberg P 2003 First symposium of ICCIDD west-central Europe. J Endocrinol Invest 26(Suppl 9):1-62
16. Gutekunst R, Becker W, Hehrmann R, Olbricht T, Pfannenstiel P 1988 Ultraschalldiagnostik der Schilddrüse [Ultrasonic diagnosis of the thyroid gland]. Dtsch Med Wochenschr 113:1109-1112
17. O'Connell JR, Weeks DE 1998 PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259-266
18. Lathrop GM, Lalouel LJ 1984 Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
19. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES 1996 Parametric and non-parametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363
20. Sobel E, Lange K 1996 Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 58:1323-1337
21. Beck-Peccoz P, Chatterjee VK, Chin WW, DeGroot LJ, Jameson JL, Nakamura H, Refetoff S, Usala SJ, Weintraub BD 1994 Nomenclature of thyroid hormone receptor β gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11 July 1993, Cambridge, UK. Clin Endocrinol (Oxf) 40:697-700
22. Corral J, Martin C, Perez R, Sanchez I, Mories MT, San Millan JL, Miralles JM, Gonzalez-Sarmiento R 1993 Thyroglobulin gene point mutation associated with non-endemic simple goitre. Lancet 341:462-464
23. Perez-Centeno C, Gonzalez-Sarmiento R, Mories MT, Corrales JJ, Miralles-Garcia JM 1996 Thyroglobulin exon 10 gene point mutation in a patient with endemic goiter. Thyroid 6:423-427
24. Targovnik HM, Varela V, Frechtel GD, Cerrone GE, Copelli SB, Propato FV, Mendive F 1994 Molecular genetics of hereditary thyroid diseases due a defect in the thyroglobulin or thyroperoxidase synthesis. Braz J Med Biol Res 27: 2745-2757
25. Targovnik HM, Frechtel GD, Mendive FM, Vono J, Cochaux P, Vassart G, Medeiros-Neto G 1998 Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism. Thyroid 8:291-297
26. Hadjidakis SG, Koutras DA, Daikos GK 1964 Endemic goitre in Greece: family studies. J Med Genet 38:82-87
27. Heimann P 1966 Familial incidence of thyroid disease and anamnestic incidence of pubertal struma in 449 consecutive struma patients. Acta Med Scand 179:113-119
28. Malamos B, Koutras DA, Marketos SG, Rigopoulos GA, Yataganas XA, Binopoulos D, Sfontouris J, Pharmakiotis AD, Vought RL, London WT 1967 Endemic goiter in Greece: an iodine balance study in the field. J Clin Endocrinol Metab 27:1372-1380
29. Murray IP, Thomson JA, McGirr EM, Macdonald EM, Kennedy JS, McLennan I 1966 Unusual familial goiter associated with intrathyroidal calcification. J Clin Endocrinol Metab 26:1039-1049
30. Ban Y, Davies TF, Greenberg DA, Concepcion ES, Tomer Y 2002 The influence of human leucocyte antigen (HLA) genes on autoimmune thyroid disease (AITD): results of studies in HLA-DR3 positive AITD families. Clin Endocrinol (Oxf) 57:81-88
31. Imrie H, Vaidya B, Perros P, Kelly WF, Toft AD, Young ET, Kendall-Taylor P, Pearce SH 2001 Evidence for a Graves' disease susceptibility locus at chromosome Xp11 in a United Kingdom population. J Clin Endocrinol Metab 86:626-630
32. Jin Y, Teng W, Ben S, Xiong X, Zhang J, Xu S, Shugart YY, Jin L, Chen J, Huang W 2003 Genome-wide scan of Graves' disease: evidence for linkage on chromosome 5q31 in Chinese Han pedigrees. J Clin Endocrinol Metab 88: 1798-1803
33. Sakai K, Shirasawa S, Ishikawa N, Ito K, Tamai H, Kuma K, Akamizu T, Tanimura M, Furugaki K, Yamamoto K, Sasazuki T 2001 Identification of susceptibility loci for autoimmune thyroid disease to 5q31-q33 and Hashimoto's thyroiditis to 8q23-q24 by multipoint affected sib-pair linkage analysis in Japanese. Hum Mol Genet 10:1379-1386
34. Tomer Y 2002 Genetic dissection of familial autoimmune thyroid diseases using whole genome screening. Autoimmun Rev 1:198-204
35. Tomer Y, Concepcion E, Greenberg DA 2002 A C/T single-nucleotide polymorphism in the region of the CD40 gene is associated with Graves' disease. Thyroid 12:1129-1135
36. Villanueva R, Tomer Y, Greenberg DA, Mao C, Concepcion ES, Tucci S, Estilo G, Davies TF 2002 Autoimmune thyroid disease susceptibility loci in a large Chinese family. Clin Endocrinol (Oxf) 56:45-51
37. Tomer Y, Davies TF 2003 Searching for the autoimmune thyroid disease susceptibility from gene mapping to gene function. Endocr Rev 24:694-717
38. 125I] triiodothyronine to fibroblast nuclei. J Endocrinol Invest 9:459-470
39. Pohlenz J, Weise RE, Macchia PE, Pannain S, Lau IT, Ho H, Refetoff S 1999 Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor β gene. J Clin Endocrinol Metab 84:3919-3928
40. Refetoff S, Weiss RE, Usala SJ 1993 The syndromes of resistance to thyroid hormone. Endocr Rev 14:348-399
41. Kacem HH, Rebai A, Kaffel N, Masmoudi S, Abid M, Ayadi H 2003 PDS is a new susceptibility gene to autoimmune thyroid diseases: association and linkage study. J Clin Endocrinol Metab 88:2274-2280
42. Knudsen N, Bülow I, Laurberg P, Ovesen L, Perrild H, Jorgensen T 2002 Association of tobacco smoking with goiter in a low-iodine-intake area. Arch Intern Med 162:439-443
43. Brix TH, Hansen PS, Kyvik KO, Hegedüs L 2000 Cigarette smoking and risk of clinically overt thyroid disease: a population-based twin case-control study. Arch Intern Med 160:661-666