A whole-genome linkage scan suggests several genomic regions potentially containing QTLs underlying the variation of stature

American Journal of Medical Genetics

Volumn 113, Issue 1, 2002, Pages 29-39

  Deng, Hong Wen ^a,b   Xu, Fu Hua ^a   Liu, Yao Zhong ^a   Shen, Hui ^a   Deng, Hongyi ^a   Huang, Qing Yang ^a   Liu, Yong Jun ^a   Conway, Theresa ^a   Li, Jin Long ^a   Davies, K M ^a   Recker, Robert R ^a  

^a CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HUNAN NORMAL UNIVERSITY   (China)

Author keywords

Gene mapping; Height; Linkage analysis; Whole genome scan

Indexed keywords

ADULT; AGED; ARTICLE; BODY HEIGHT; CHROMOSOME 5Q; CHROMOSOME XP; ENVIRONMENTAL FACTOR; FEMALE; GENE MAPPING; GENETIC LINKAGE; GENETIC MARKER; HEREDITY; HUMAN; MALE; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; SHORT STATURE;

BODY HEIGHT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 5; CHROMOSOMES, HUMAN, X; FEMALE; GENOME, HUMAN; HUMANS; LOD SCORE; MALE; PEDIGREE; QUANTITATIVE TRAIT LOCI; SEX CHARACTERISTICS; VARIATION (GENETICS);

EID: 0002111866     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10742     Document Type: Article

References (62)

1. Allen LH. 1995. Malnutrition and human function: a comparison of conclusions from the INCAP and nutrition CRSP studies. J Nutr 125:1119S-1126S.
2. Allison DB. 1997. Transmission-disequilibrium tests for quantitative traits. Am J Hum Genet 60:676-690.
3. Allison DB, Neale MC, Zannolli R, Schork NJ, Amos CI, Blangero J. 1999. Testing the robustness of the likelihood-ratio test in a variance-component quantitative-trait loci mapping procedure. Am J Hum Genet 65:531-544.
4. Almasy L, Blangero J. 1998. Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet 62:1198-1211.
5. Amos CI. 1994. Robust variance-components approach for assessing genetic linkage in pedigrees. Am J Hum Genet 54:535-543.
6. Amos CI, Zhu DK, Boerwinkle E. 1996. Assessing genetic linkage and association with robust components of variance approaches. Ann Hum Genet 60:143-160.
7. Binder G, Schwarze CP, Ranke MB. 2000. Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone. J Clin Endocrinol Metab 85:1:245-249.
8. Blaschke RJ, Rappold GA. 2000. SHOX: growth, Léri-Weill and Turner syndromes. Trends Endocrinol Metab 11:227-230.
9. Carmichael CM, McGue M. 1995. A cross-sectional examination of height, weight, and body mass index in adult twins. J Gerontol A Biol Sci Med Sci 50:B237.
10. de-Andrade M, Amos CI. 2000. Ascertainment issues in variance components models. Genet Epidemiol 19:333-344.
11. de-Andrade M, Thiel TJ, Yu L, Amos CI. 1997. Assessing linkage on chromosome 5 using components variance approach: univariate versus multivariate. Genet Epidemiol 14:773-778.
12. Deng HW, Chen WM. 2000. QTL fine mapping in extreme samples of finite populations for complex traits with familial correlation due to polygenes. Am J Hum Genet 67:259-261.
13. Deng HW, Li J. 2002. The effect of selective sampling on transmission disequilibrium test of a QTL. Genet Res 79:161-174.
14. Deng HW, Li J, Li JL, Johnson M, Recker RR. 1999. Association of VDR and ER genotypes with bone mass in postmenopausal women: different conclusions with different analyses. Osteoporosis Int 9:499-507.
15. Deng HW, Zhou Y, Johnson M, Li J, Recker RR. 2000a. Product difference of multiplex and singleplex PCR and its practical implications for human genetic studies. BioTechniques 29:298-308.
16. Deng HW, Li J, Li JL, Johnson M, Dowd R, Gong G, Deng HY, Recker RR. 2000b. Association of estrogen receptor-alpha (ER) genotypes with body mass index in normal healthy postmenopausal Caucasian women. J Clin Endocrinol Metab 85:2748-2751.
17. Deng HW, Chen WM, Recker RR. 2000c. QTL fine mapping in extreme samples from populations. Am J Hum Genet 66:1027-1045.
18. Deng HW, Xu FH, Conway T, Deng XT, Li JL, Davies KM, Deng HY, Johnson M, Recker RR. 2001a. Is population bone mineral density variation linked to the marker D11S987 on chromosome 11q12-13? J Clin Endocrinol Metab 86:3735-3741.
19. Deng HW, Li J, Recker RR. 2001b. LOD score exclusion analyses of candidate genes with random population samples. Ann Hum Genet 65:313-329.
20. Deng HW, Xu FH, Huang QY, Shen H, Deng HY, Zhang HT, Liu YZ, Liu YJ, Conway T, Davies KM, Recker RR. 2002a. A whole genome scan suggests several genomic regions potentially containing QTLs for osteoporosis. J Clin Endocrinol Metabol (in press).
21. Deng HW, Mahaney MC, Williams J, Li J, Conway T, Davies KM, Li JL, Deng HY, Lai DB, Recker RR. 2002b. Relevance of the genes for bone mass variation to susceptibility to osteoporotic fractures and its implications to gene search for complex human diseases. Genet Epidemiol 22:12-25.
22. Deng HW, Deng HY, Liu YJ, Liu YZ, Xu FH, Shen H, Conway T, Davies KM, Recker RR. 2002c. A genomewide linkage scan for QTL for obesity phenotypes. Am J Human Genet 70:1138-1151.
23. Drop SLS, De Waal WJ, Keizer-Schrama SMPFDM. 1998. Sex steroid treatment of constitutionally tall stature. Endocr Rev 19:540-558.
24. Ellison JW, Wardak Z, Young MF, Gehron RP, Laig-Webster M, Chiong W. 1997. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum Mol Genet 6:1341-1347.
25. Garnero P, Borel O, Grant SFA, Ralston SH, Delmas PD. 1998. Collagen Iα1 Sp1 polymorphism, bone mass, and bone turnover in healthy French premenopausal women: the OFELY study. J Bone Miner Res 13:5:813-817.
26. Gedeon AK, Colley A, Jamieson R, Thompson EM, Rogers J, Sillence D, Tiller GE, Mulley JC, Gecz J. 1999. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nat Genet 22:400-404.
27. Ginsburg E, Livshits G, Yakovenko K, Kobyliansky E. 1998. Major gene control of human body height, weight and BMI in five ethnically different populations. Ann Hum Genet 62:307-322.
28. Gluckman PD, Harding JE. 1997. Fetal growth retardation: underlying endocrine mechanism and postnatal consequences. Acta Paediatr Suppl 42269-42272.
29. Göring Harald HH, Terwilliger JD, Blangero J. 2001. Large upward bias in estimation of locus-specific effects from genomewide scans. Am J Hum Genet 69:1357-1369.
30. Gu C, Province MA, Li Z, Rao DC. 1996. Meta-analysis methodology for combining non-parametric sibpair linkage results. Genet Epidemiol 13: A302.
31. Gu C, Province M, Todorov A, Rao DC. 1998. Meta-analysis for combining non-parametric sibpair linkage results: genetic homogeneity and identical markers. Genet Epidemiol 15:609-626.
32. Hirschhorn JN, Lindgren CM, Daly MJ, Kirby A, Schaffner SF, Burtt NP, Altshuler D, Parker A, Rioux JD, Platko J, Gaudet D, Hudson TJ, Groop LC, Lander ES. 2001. Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height. Am J Hum Genet 69:106-116.
33. Huang QY, Xu FH, Shen H, Deng HY, Liu YJ, Liu YZ, Li JL, Recker RR, Deng HW. 2002. Mutation Patterns at Dinucleotide Microsatellite Loci in Humans. Am J Hum Genet 70:625-634.
34. Kusin JA, Kardjati S, Houtkooper JM, Renqvist UH. 1992. Energy supplementation during pregnancy and postnatal growth. Lancet 340:623-626.
35. Lander E, Kruglyak L. 1995. Genetic dissection of complex traits: guidelines for interpretating the reporting results. Nat Genet 11:241-247.
36. Li Z, Rao DC. 1996. A random effects model for meta-analysis of multiple quantitative sibpair linkage studies. Genet Epidemiol 13:377-383.
37. Li JL, Deng HY, Lai DB, Recker RR, Deng HW. 2001. Towards high-throughput genotyping: a dynamic and automatic software for manipulating large-scale genotype data using fluorescently labeled dinucleotide markers. Genome Res 11:1304-1314.
38. Lorentzon M, Lorentzon R, Bäckström T, Nordström P. 1999. Estrogen receptor gene polymorphism, but not estradiol levels, is related to bone density in healthy adolescent boys: a cross-sectional and longitudinal study. J Clin Endocrinol Metab 84:4597-4601.
39. Martorell R, Mendoza FS, Castillo RO. 1989. Genetic and environmental determinants of growth in Mexican-Americans. Pediatrics 84:5:864-871.
40. Minamitani K, Takahashi Y, Minagawa M, Yasuda T, Niimi H. 1998. Difference in height associated with a translation start site polymorphism in the vitamin D receptor gene. Pediatr Res 44:5:628-632.
41. Miyake H, Nagashima K, Onigata K, Nagashima T, Takano Y, Morikawa A. 1999. Allelic variations of the D2 dopamine receptor gene in children with idiopathic short stature. J Hum Genet 44:26-29.
42. O'Connell JR, Weeks DE. 1998. PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259-266.
43. Ohlsson C, Sjogren K, Jansson JO, Isaksson OG. 2000. The relative importance of endocrine versus autocrine/paracrine insulin-like growth factor-I in the regulation of body growth. Pediatr Nephrol 14:541-543.
44. Pearson K, Lee A. 1903. On the laws of inheritance in man. Biometrika 2:356-462.
45. Perola M, Öhman M, Hiekkalinna T, Leppävuori J, Pajukanta P, Wessman M, Koskenvuo M, Palotie A, Lange K, Kaprio J, Peltonen L. 2001. Quantitative-trait-locus analysis of body-mass index and of stature, by combined analysis of genome scans of five Finnish study groups. Am J Hum Genet 69:117-123.
46. Phillips K, Matheny AP. 1990. Quantitative genetic analysis of longitudinal trends in height: preliminary results from the Louisville Twin Study. Acta Genet Med Gemellol 39:143-163.
47. Pine DS, Cohen P, Brook J. 1996. Emotional problems during youth as predictors of stature during early adulthood: results from a prospective epidemiologic study. Pediatrics 97:6:856-863.
48. Preece MA. 1996. The genetic contribution to stature. Horm Res 45:56-58.
49. Raivio T, Huhtaniemi I, Anttila R, Siimes M.A, Hagenäs L, Nilsson C, Pettersson K, Dunkel L. 1996. The role of luteinizing hormone-β gene polymorphism in the onset of progression of puberty in healthy boys. J Clin Endocrinol Metab 81:9:3278-3282.
50. Rantakallio P. 1983. A follow-up study up to the age of 14 of children whose mothers smoked during pregnancy. Acta Paediatr Scand 72:747-753.
51. Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal AE, Ogata T, Rappold GA. 1997. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 16:1:54-63.
52. Risch N, Zhang H. 1995. Extreme discordant sib pairs for mapping quantitative trait loci in humans. Science 268:1584-1589.
53. Roberts DF, Billewicz WZ, McGregor IA. 1978. Heritability of stature in a west African population. Ann Hum Genet 42:15-24.
54. Sham PK, Zhao JH, Cherny SS, Hewitt JK. 2000. Variance-components QTL linkage analysis of selected and non-normal samples: conditioning on trait values. Genet Epidemiol 19 (suppl 1):S22-S28.
55. Silventoinen K, Kaprio J, Lahelma E, Koskenvuo M. 2000. Relative effect of genetic and environmental factors on body height: differences across birth cohorts among Finnish men and women. Am J Pub Health 90:627-630.
56. Sokal RR, Rohlf FJ. 1995. Biometry. 3rd ed. New York: W. H. Freeman and Company.
57. Spielman RS, McGinnis RE, Ewens WJ. 1993. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52:506-516.
58. Suarez BK, Hampe CL, Van Eerdewegh P. 1994. Problems of replicating linkage claims in psychiatry. In: Gershon ES, Cloninger CR, eds. Genetic approaches to mental disorders. Washington, DC: American Psychiatric Press. p 23-46.
59. Thompson DB, Ossowski V, Janssen RC, Knowler WC, Bogardus C. 1995. Linkage between stature and a region on chromosome 20 and analysis of a candidate gene, bone morphogenetic protein 2. Am J Med Genet 59:495-500.
60. Todorov A, Rao DC. 1997. Trade-off between false positives and false negatives in the linkage analysis of complex traits. Genet Epidemiol 14:453-464.
61. Williams JT, Van Eerdewegh P, Almasy L, Blangero J. 1999. Joint multi-point linkage analysis of multivariate qualitative and quantitative traits. I. likelihood formulation and simulation results. Am J Hum Genet 65:1134-1147.
62. Witte JS, Elston RC, Schork NJ. 1996. Letter to the editor. Nat Genet 12:355-356.