Extended haplotypes in the growth hormone releasing hormone receptor gene (GHRHR) are associated with normal variation in height

PLoS ONE

Volumn 4, Issue 2, 2009, Pages

  Johansson, Åsa ^a   Jonasson, Inger ^a   Gyllensten, Ulf ^a  

^a UPPSALA UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE RECEPTOR; GROWTH HORMONE RELEASING HORMONE RECEPTOR; UNCLASSIFIED DRUG;

ARTICLE; BODY HEIGHT; CHROMOSOME 7; CONTROLLED STUDY; FEMALE; GENE FUNCTION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GROWTH HORMONE DEFICIENCY; HAPLOTYPE; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; POPULATION GENETICS; SINGLE NUCLEOTIDE POLYMORPHISM; SWEDEN;

EID: 84887212601     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0004464     Document Type: Article

References (29)

1. Liu Y-Z, Xiao P, Guo Y-f, Xiong D-H, Zhao L-J, et al. (2006) Genetic linkage of human height is confirmed to 9q22 and Xq24. Human Genetics 119: 295-304.
2. Weedon MN, Lango H, Lindgren CM, Wallace C, Evans DM, et al. (2008) Genome-wide association analysis identifies 20 loci that influence adult height. Nat Genet 40: 575-583.
3. Lettre G, Jackson AU, Gieger C, Schumacher FR, Berndt SI, et al. (2008) Identification of ten loci associated with height highlights new biological pathways in human growth. Nat Genet 40: 584-591.
4. Gudbjartsson DF, Walters GB, Thorleifsson G, Stefansson H, Halldorsson BV, et al. (2008) Many sequence variants affecting diversity of adult human height. Nat Genet 40: 609-615.
5. Sajantila A, Salem AH, Savolainen P, Bauer K, Gierig C, et al. (1996) Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population. Proc Natl Acad Sci U S A 93: 12035-12039.
6. Norio R (2003) The Finnish Disease Heritage III: the individual diseases. Hum Genet 112: 470-526.
7. Terwilliger JD, Zollner S, Laan M, Paabo S (1998) Mapping genes through the use of linkage disequilibrium generated by genetic drift: 'drift mapping' in small populations with no demographic expansion. Hum Hered 48: 138-154.
8. Johansson A, Vavruch-Nilsson V, Edin-Liljegren A, Sjolander P, Gyllensten U (2005) Linkage disequilibrium between microsatellite markers in the Swedish Sami relative to a worldwide selection of populations. Hum Genet 116: 105-113.
9. Hassler S, Sjölander P, Ericsson AJ (2004) Construction of a database on health and living conditions of the Swedish Sami population. In: Befolkning och bosättning i norr - Etnicitet, identitet och gränser i historiens sken Centre for Sami Research, Umeå university. pp 107-124.
10. Johansson A, Vavruch-Nilsson V, Cox DR, Frazer KA, Gyllensten U (2007) Evaluation of the SNP tagging approach in an independent population sample-array based SNP discovery in Sami. Hum Genet 122: 141-150.
11. Silventoinen K (2003) Determinants of variation in adult body height. J Biosoc Sci 35: 263-285.
12. Wajnrajch MP, Gertner JM, Harbison MD, Chua SC, Leibel RL (1996) Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Nat Genet 12: 88-90.
13. Salvatori R, Hayashida CY, Aguiar-Oliveira MH, Phillips JA III, Souza AHO, et al. (1999) Familial Dwarfism due to a Novel Mutation of the Growth Hormone-Releasing Hormone Receptor Gene. Journal of Clinical Endocrinology Metabolism 84: 917-923.
14. Salvatori R, Fan X, Phillips JA III, Espigares-Martin R, Martin de Lara I, et al. (2001) Three New Mutations in the Gene for the Growth Hormone (GH)-Releasing Hormone Receptor in Familial Isolated GH Deficiency Type IB. Journal of Clinical Endocrinology Metabolism 86: 273-279.
15. Salvatori R, Fan X, Mullis PE, Haile A, Levine MA (2002) Decreased Expression of the GHRH Receptor Gene Due to a Mutation in a Pit-1 Binding Site. Molecular Endocrinology 16: 450-458.
16. Liu Y-Z, Xu F-H, Shen H, Liu Y-J, Zhao L-J, et al. (2004) Genetic Dissection of Human Stature in a Large Sample of Multiplex Pedigrees. Annals of Human Genetics 68: 472-488.
17. Cavalli-Sforza LL, Wilson AC, Cantor CR, Cook-Deegan RM, King MC (1991) Call for a worldwide survey of human genetic diversity: a vanishing opportunity for the Human Genome Project. Genomics 11: 490-491.
18. Cann HM, de Toma C, Cazes L, Legrand MF, Morel V, et al. (2002) A human genome diversity cell line panel. Science 296: 261-262.
19. Aguiar-Oliveira MH, Gill MS, de ES, Barretto A, Alcantara MRS, et al. (1999) Effect of Severe Growth Hormone (GH) Deficiency due to a Mutation in the GH-Releasing Hormone Receptor on Insulin-Like Growth Factors (IGFs), IGF-Binding Proteins, and Ternary Complex Formation Throughout Life. Journal of Clinical Endocrinology Metabolism 84: 4118-4126.
20. Lettre G, Butler J, Ardlie K, Hirschhorn J (2007) Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation. Human Genetics 122: 129-139.
21. de Bakker PI, Yelensky R, Pe'er I, Gabriel SB, Daly MJ, et al. (2005) Efficiency and power in genetic association studies. Nat Genet 37: 1217-1223.
22. Sanna S, Jackson AU, Nagaraja R, Willer CJ, Chen W-M, et al. (2008) Common variants in the GDF5-UQCC region are associated with variation in human height. Nat Genet 40: 198-203.
23. Weedon MN, Lettre G, Freathy RM, Lindgren CM, Voight BF, et al. (2007) A common variant of HMGA2 is associated with adult and childhood height in the general population. Nat Genet 39: 1245-1250.
24. Altshuler D, Brooks LD, Chakravarti A, Collins FS, Daly MJ, et al. (2005) A haplotype map of the human genome. Nature 437: 1299-1320.
25. Johansson Å, Karlsson P, Gyllensten U (2003) A novel method for automatic genotyping of microsatellite markers based on parametric pattern recognition. Hum Genet.
26. Almasy L, Blangero J (1998) Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet 62: 1198-1211.
27. Aulchenko YS, Ripke S, Isaacs A, van Duijn CM (2007) GenABEL: an R library for genome-wide association analysis. Bioinformatics 23: 1294-1296.
28. Chen W-M, Abecasis GR (2007) Family-Based Association Tests for Genome-wide Association Scans. The American Journal of Human Genetics 81: 913-926.
29. Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA (2002) Score Tests for Association between Traits and Haplotypes when Linkage Phase Is Ambiguous. American journal of human genetics 70: 425-434.