Height matters - From monogenic disorders to normal variation

Nature Reviews Endocrinology

Volumn 9, Issue 3, 2013, Pages 171-177

  Durand, Claudia ^a   Rappold, Gudrun A ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN 1; FIBROBLAST GROWTH FACTOR RECEPTOR 3; GROWTH HORMONE;

BODY HEIGHT; COPY NUMBER VARIATION; GENE; GENE INTERACTION; GENE LOCUS; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HERITABILITY; HUMAN; MONOGENIC DISORDER; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SHORT STATURE; SHOX GENE; TALL STATURE;

BODY HEIGHT; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GROWTH; HOMEODOMAIN PROTEINS; HUMAN GROWTH HORMONE; HUMANS; MICROFILAMENT PROTEINS; MULTIFACTORIAL INHERITANCE; MUTATION; QUANTITATIVE TRAIT LOCI; QUANTITATIVE TRAIT, HERITABLE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3;

EID: 84875532638     PISSN: 17595029     EISSN: 17595037     Source Type: Journal    
DOI: 10.1038/nrendo.2012.251     Document Type: Review

References (81)

1. Judge, T. A. & Cable, D. M. The effect of physical height on workplace success and income: Preliminary test of a theoretical model. J. Appl. Psychol. 89, 428-441 (2004).
2. Silventoinen, K. Determinants of variation in adult body height. J. Biosoc. Sci. 35, 263-285 (2003).
3. Silventoinen, K. et al. Heritability of adult body height: A comparative study of twin cohorts in eight countries. Twin Res. 6, 399-408 (2003).
4. Macgregor, S., Cornes, B. K., Martin, N. G. & Visscher, P. M. Bias, precision and heritability of self-reported and clinically measured height in Australian twins. Hum. Genet. 120, 571-580 (2006).
5. Lango Allen, H. et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467, 832-838 (2010).
6. Godfrey, M. & Hollister, D. W. Type II achondrogenesis- hypochondrogenesis: Identification of abnormal type II collagen. Am. J. Hum. Genet. 43, 904-913 (1998).
7. Vissing, H. et al. Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism. J. Biol. Chem. 264, 18265-18267 (1989).
8. Shiang, R. et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78, 335-342 (1994).
9. Rao, E. et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat. Genet. 16, 54-63 (1997).
10. Tartaglia, M. et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP?2, cause Noonan syndrome. Nat. Genet. 29, 465-468 (2001).
11. Raben, M. S. Treatment of a pituitary dwarf with human growth hormone. J. Clin. Endocrinol. Metab. 18, 901-903 (1958).
12. Ranke, M., Weber, B. & Bierich, J. R. Long-term response to human growth hormone in 36 children with idiopathic growth hormone deficiency. Eur. J. Pediatr. 132, 221-238 (1979).
13. Phillips, J. A. 3rd, Hjelle, B. L., Seeburg, P. H. & Zachmann, M. Molecular basis for familial isolated growth hormone deficiency. Proc. Natl Acad. Sci. USA 78, 6372-6375 (1981).
14. Mullis, P. E. Genetic control of growth. Eur. J. Endocrinol. 152, 11-31 (2005).
15. Prince, K. L., Walvoord, E. C. & Rhodes, S. J. The role of homeodomain transcription factors in heritable pituitary disease. Nat. Rev. Endocrinol. 7, 727-737 (2011).
16. Sherlock, M., Woods, C. & Sheppard, M. C. Medical therapy in acromegaly. Nat. Rev. Endocrinol. 7, 291-300 (2011).
17. Ribeiro-Oliveira, A. Jr. & Barkan, A. The changing face of acromegaly-advances in diagnosis and treatment. Nat. Rev. Endocrinol. 8, 605-611 (2012).
18. Horton, W. A., Hall, J. G. & Hecht, J. T. Achondroplasia. Lancet 370, 162-172 (2007).
19. Rousseau, F. et al. Mutations in the gene encoding fibroblast growth factor receptor?3 in achondroplasia. Nature 371, 252-254 (1994).
20. Tavormina, P. L. et al. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat. Genet. 9, 32-38 (1995).
21. Bellus, G. A. et al. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat. Genet. 10, 357-359 (1995).
22. Rousseau, F. et al. Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. Nat. Genet. 10, 11-12 (1995).
23. Rousseau, F. et al. Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). Hum. Mol. Genet. 5, 509-512 (1996).
24. Toydemir, R. M. et al. A novel mutation in FGFR3 causes campodactyly, tall stature, and hearing loss (CATSHL) syndrome. Am. J. Hum. Genet. 79, 935-941 (2006).
25. Belin, V. et al. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat. Genet. 19, 67-69 (1998).
26. Shears, D. J. et al. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat. Genet. 19, 70-73 (1998).
27. Rappold, G. et al. Genotypes and phenotypes in children with short stature: Clinical indicators of SHOX haploinsufficiency. J. Med. Genet. 44, 306-313 (2007).
28. Rosilio, M. et al. Genotypes and phenotypes of children with SHOX deficiency in France. J. Clin. Endocrinol. Metab. 97, E1257-E1265 (2012).
29. Marchini, A. et al. The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes. J. Biol. Chem. 279, 37103-37114 (2004).
30. Ottesen, A. M. et al. Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy. Am. J. Med. Genet. A 152A, 1206-1212 (2010).
31. Kanaka-Gantenbein, C. et al. Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: Offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes. Horm. Res. 61, 205-210 (2004).
32. Ottesen, A. M. et al. Increased number of sex chromosomes affect height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy. Am. J. Med. Genet. 152A, 1206-1212 (2010).
33. Canadas, V., Vilacosta, I., Bruna, I. & Fuster, V. Marfan syndrome. Pathophysiology and diagnosis. Nat. Rev. Cardiol. 7, 256-265 (2010).
34. Le Goff, C. et al. Mutations in the TGF? binding?protein?like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am. J. Hum. Genet. 89, 7-14 (2011).
35. Faivre, L. et al. In frame fibrillin?1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J. Med. Genet. 40, 34-36 (2003).
36. Wit, J. M. Diagnosis and management of disorders of IGF?I synthesis and action. Pediatr. Endocrinol. Rev. 9 (Suppl. 1), 538-540 (2011).
37. David, A. et al. Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity. Endocr. Rev. 32, 472-497 (2011).
38. Domené, H. M. et al. Human acid-labile subunit deficiency: Clinical, endocrine and metabolic consequences. Horm. Res. 72, 129-141 (2009).
39. Horton, W. A. Fibroblast growth factor receptor 3 and the human chondrodysplasias. Curr. Opin. Pediatr. 9, 437-442 (1997).
40. Aviezer, D., Golembo, M. & Yayon, A. Fibroblast growth factor receptor?3 as a therapeutic target for Achondroplasia-genetic short limbed dwarfism. Curr. Drug Targets 4, 353-365 (2003).
41. Jonquoy, A. et al. A novel tyrosine kinase inhibitor restores chondrocyte differentiation and promotes bone growth in a gain?of?function Fgfr3 mouse model. Hum Mol Genet. 21, 841-851 (2012).
42. Qing, J. et al. Antibody-based targeting of FGFR3 in bladder carcinoma and t(4;14)-positive multiple myeloma in mice. J. Clin. Invest. 119, 1216-1129 (2009).
43. Jin, M. et al. A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia. Hum. Mol. Genet. 21, 5443-5455 (2012).
44. Yasoda, A. et al. Systemic administration of C?type natriuretic peptide as a novel therapeutic strategy for skeletal dysplasias. Endocrinology 150, 3138-3144 (2009).
45. Laederich, M. B. & Horton, W. A. FGFR3 targeting strategies for achondroplasia. Expert Rev. Mol. Med. 14, e11 (2012).
46. Binder, G. Short stature due to SHOX deficiency: Genotype, phenotype, and therapy. Horm. Res. Paediatr. 75, 81-89 (2011).
47. Benito-Sanz, S. et al. A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. Am. J. Hum. Genet. 77, 533-544 (2005).
48. Sabherwal, N. et al. Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients. Hum. Mol. Genet. 16, 210-22 (2007).
49. Blum, W. F. et al. Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial. J. Clin. Endocrinol. Metab. 92, 219-228 (2007).
50. Brooke, B. S. et al. Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N. Engl. J. Med. 358, 2787-2795 (2008).
51. Bolar, N., Van Laer, L., & Loeys, B. L. Marfan syndrome: From gene to therapy. Curr. Opin. Pediatr. 24, 498-504 (2012).
52. Neptune, E. R. et al. Dysregulation of TGF-? activation contributes to pathogenesis in Marfan syndrome. Nat. Genet. 33, 407-411 (2003).
53. Loeys, B. L. et al. Aneurysm syndromes caused by mutations in the TGF-? receptor. N. Engl. J. Med. 355, 788-798 (2006).
54. Holm, T. M. et al. Noncanonical TGF? signaling contributes to aortic aneurysm progression in Marfan syndrome mice. Science 332, 358-361 (2011).
55. Habashi, J. P. et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 312, 117-121 (2006).
56. Akhurst, R. J. & Hata, A. Targeting the TGF? signalling pathway in disease. Nat. Rev. Drug Discov. 11, 790-811 (2012).
57. Weedon, M. N. et al. A common variant of HMGA2 is associated with adult and childhood height in the general population. Nat. Genet. 39, 1245-1250 (2007).
58. Zhou, X., Benson, K. F., Ashar, H. R. & Chada, K. Mutation responsible for the mouse pygmy phenotype in the developmentally regulated factor HMGI.?C. Nature 376, 771-774 (1995).
59. Gudbjartsson, D. F. et al. Many sequence variants affecting diversity of adult human height. Nat. Genet. 40, 609-615 (2008).
60. Lettre, G. et al. Identification of ten loci associated with height highlights new biological pathways in human growth. Nat. Genet. 40, 584-591 (2008).
61. Weedon, M. N. et al. Genome-wide association analysis identifies 20 loci that influence adult height. Nat. Genet. 40, 575-583 (2008).
62. Sanna, S. et al. Common variants in the GDF5-UQCC region are associated with variation in human height. Nat. Genet. 40, 198-203 (2008).
63. Estrada, K. et al. A genome-wide association study of northwestern Europeans involves the C?type natriuretic peptide signaling pathway in the etiology of human height variation. Hum. Mol. Genet. 18, 3516-3524 (2009).
64. Soranzo, N. et al. Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. PLoS Genet. 5, e1000445 (2009).
65. Johansson, A. et al. Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis. Hum. Mol. Genet. 18, 373-380 (2009).
66. Kim, J. J. et al. Identification of 15 loci influencing height in a Korean population. J. Hum. Genet. 55, 27-31 (2010).
67. Okada, Y. et al. A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. Hum. Mol. Genet. 19, 2303-2312 (2010).
68. Cho, Y. S. et al. A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. Nat. Genet. 41, 527-534 (2009).
69. Yang, J. et al. Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nat. Genet. 44, 369-375 (2012).
70. Lanktree, M. B. et al. Meta-analysis of dense genecentric association studies reveals common and uncommon variants associated with height. Am. J. Hum. Genet. 88, 6-18 (2011).
71. Gibson, G. Rare and common variants: Twenty arguments. Nat. Rev. Genet. 13, 135-145 (2012).
72. Alkan, C., Coe, B. P. & Eichler, E. E. Genome structural variation discovery and genotyping. Nat. Rev. Genet. 12, 363-376 (2011).
73. Dauber, A. et al. Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions. Am. J. Hum. Genet. 89, 751-759 (2011).
74. Pinto, D. et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466, 368-372 (2010).
75. International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455, 237-241 (2008).
76. Zuk, O., Hechter, E., Sunyaev, S. R. & Lander, E. S. The mystery of missing heritability: Genetic interactions create phantom heritability. Proc. Natl Acad. Sci. USA 109, 1193-1198 (2012).
77. Yang, J. et al. Genome partitioning of genetic variation for complex traits using common SNPs. Nat. Genet. 43, 519-525 (2011).
78. Slatkin, M. Epigenetic inheritance and the missing heritability problem. Genetics 182, 845-850 (2009).
79. Weinstein, M., Xu, X., Ohyama, K. & Deng, C. X. FGFR?3 and FGFR?4 function cooperatively to direct alveogenesis in the murine lung. Development 125, 3615-3623 (1998).
80. Lettre, G. Recent progress in the study of the genetics of height. Hum. Genet. 129, 465-472 (2011).
81. Chan, Y. et al. Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals. PLoS Genet. 7, e1002439 (2011).