Confirmation linkage study in support of the X chromosome harbouring a QTL underlying human height variation

Journal of Medical Genetics

Volumn 40, Issue 11, 2003, Pages 825-831

  Liu, Y Z ^a   Xu, F H ^a   Shen, H ^a   Deng, H ^a   Liu, Y J ^a   Zhao, L J ^a   Dvornyk, V ^a   Conway, T ^a   Li, J L ^b   Huang, Q Y ^a   Davies, K M ^a   Recker, R R ^a   Deng, H W ^a  

^a CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; BODY HEIGHT; BONE DENSITY; BONE MINERAL; CONTROLLED STUDY; FEMALE; GENETIC LINKAGE; GENOME ANALYSIS; GENOTYPE; HEREDITY; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; PEDIGREE; POPULATION GENETICS; POPULATION RESEARCH; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; SHORT STATURE; STATISTICAL ANALYSIS; X CHROMOSOME;

EID: 10744220906     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.40.11.825     Document Type: Article

References (49)

1. Allen LH. Malnutrition and human function: a comparison of conclusions from the INCAP and nutrition CRSP studies. J Nutr 1995;125:1119-26S.
2. Fewtrell MS, Cole TJ, Bishop NJ, Lucas A. Neonatal factors predicting childhood height in preterm infants: evidence for a persisting effect of early metabolic bone disease? J Pediatr 2000;137:668-73.
3. Newell ML, Borja MC, Peckham C. Height, weight, and growth in children born to mothers with HIV-1 infection in Europe. Pediatrics 2003;111:e52-60.
4. Torres AM, Peterson KE, de-Souza AC, Orav EJ, Hughes M, Chen LC. Association of diarrhea and upper respiratory infections with weight and height gains in Bangladeshi children aged 5 to 11 years. Bull WHO 2000;78:1316-23.
5. Pearson K, Lee A. On the laws of inheritance in man. Biometrika 1903;2:356-462.
6. Phillips K, Matheny AP. Quantitative genetic analysis of longitudinal trends in height: preliminary results from the Louisville Twin Study. Acta Genet Med Gemellol 1990;39:143-63.
7. Carmichael CM, McGue M. A cross-sectional examination of height, weight, and body mass index in adult twins. J Gerontol A Biol Sci Med Sci 1995;50:B237.
8. Preece MA. The genetic contribution to stature. Horm Res 1996;45:56-8.
9. Silventoinen K, Kaprio J, Lahelma E, Koskenvuo M. Relative effect of genetic and environmental factors on body height: differences across birth cohorts among Finnish men and women. Am J Pub Health 2000;90:627-30.
10. Ginsburg E, Livshits G, Yakovenko K, Kobyliansky E. Major gene control of human body height, weight and BMI in five ethnically different populations. Ann Hum Genet 1998;62:307-22.
11. Xu JF, Bleecker ER, Jongepier H, Howard TD, Koppelman GH, Postma DS, Meyers DA. Major recessive gene(s) with considerable residual polygenic effect regulating adult height: confirmation of genomewide scan results for chromosomes 6, 9, and 12. Am J Hum Genet 2002;71:646-50.
12. Minamitoni K, Takahashi Y, Minagawa M, Yasuda T, Niimi H. Difference in height associated with a translation start site polymorphism in the Vitamin D receptor gene. Pediatric Res 1998;44:628-32.
13. Miyake H, Nagashima K, Onigata K, Nagashima T, Takano Y, Morikawa A. Allelic variations of the D2 dopamine receptor gene in children with idiopathic short stature. J Hum Genet 1999;44:26-9.
14. Garnero P, Borel O, Grant SFA, Ralston SH, Delmas PD. Collagen Iα1 Sp1 polymorphism, bone mass, and bone turnover in healthy French premenopausal women: the OFELY study. J Bone Miner Res 1998;13:813-17.
15. Lorentzon M, Lorentzon R, Bäckström T, Nordström P. 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 1999;84:4597-601.
16. Raivio T, Huhtaniemi I, Anttila R, Siimes MA. Hagenäs L, Nilsson C, Pettersson K, Dunkel L. The role of luteinizing hormone-β gene polymorphism in the onset of progression of puberty in healthy boys. J Clin Endocrinol Metab 1996;81:3278-82.
17. Thompson DB, Ossowski V, Janssen RC, Knowler WC, Bogardus C. Linkage between stature and a region on chromosome 20 and analysis of a candidate gene, bone morphogenetic protein 2. Am J Med Genet 1995;59:495-500.
18. 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. Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height. Am J Hum Genet 2001;69:106-16.
19. Perola M, Öhman M, Hiekkalinna T, Leppävuori J, Pajukanta P, Wessman M, Koskenvuo M, Palotie A, Lange K, Kaprio J, Peltonen L. 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 2001;69:117-23.
20. Deng HW, Xu FH, Liu YZ, Shen H, Deng HY, Huang QY, Liu YJ, Conway T, Li JL, Davis KM, Recker RR. A whole-genome linkage scan suggests several genomic regions potentially containing QTLs underlying the variation of stature. Am J Med Genet 2002;113:29-39.
21. Wiltshire S, Frayling TM, Hattersley AT, Hitman GA, Walker M, Levy JC, O'Rahilly S, Groves CJ, Menzel S, Cardon LR, McCarthy MI. Evidence for linkage of stature to chromosome 3p36 in a large UK family data set ascertained for type 2 diabetes. Am J Hum Genet 2002;70:543-6.
22. Risch N, Zhang H. Extreme discordant sib pairs for mapping quantitative trait loci in humans. Science 1995;268:1584-9.
23. Deng HW, Li J. The effect of selective sampling on transmission disequilibrium test of a QTL. Genet Res 2002;79:161-74.
24. Deng HW, Zhou Y, Johnson M, Li J, Recker RR. Product difference of multiplex and singleplex PCR and its practical implications for human genetic studies. BioTechniques 2000;29:298-308.
25. Li JL, Deng HY, Lai DB, Recker RR, Deng HW. Towards high-throughput genotyping: A dynamic and automatic software for manipulating large-scale genotype data using fluorescently labeled dinucleotide markers. Genome Res 2001;11:1304-14.
26. O'Connell JR, Weeks DE. PedCheck: A program far identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 1998;63:259-66.
27. Amos CI. Robust variance-components approach for assessing genetic linkage in pedigrees. Am J Hum Genet 1994;54:535-43.
28. Amos CI, Zhu DK, Boerwinkle E. Assessing genetic linkage and association with robust components of variance approaches. Ann Hum Genet 1996;60:143-60.
29. Almasy L, Blangero J. Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet 1998;62:1198-211.
30. Deng HW, Li J, Li JL, Johnson M, Dowd R, Gong G, Deng HY, Recker RR. Association of Estrogen Receptor-alpha (ER) Genotypes with Body Mass Index in Normal Healthy Postmenopausal Caucasian Women. J Clin Endocrinol Metab 2000;85:2748-51.
31. Deng HW, Li J, Li JL, Johnson M, Recker RR. Association of VDR and ER genotypes with bone mass in postmenopausal women: different conclusions with different analyses. Osteoporosis Int 1999;9:499-507.
32. Sokal RR, Rohlf FJ. Biometry, 3rd ed. New York: WH Freeman and Co, 1995.
33. Smith CAB. Testing for heterogeneity of recombination fraction values in human genetics. Ann Hum Genet 1963;27:175-82.
34. Ott J. Linkage analysis and family classification under heterogeneity. Ann Hum Genet 1983;47:311-20.
35. Whittemore AS, Halpern J. Problems in definition, interpretation, and evaluation of genetic heterogeneity. Am J Hum Genet 2001;68:457-65.
36. Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting the reporting results. Nature Genetics 1995;11:241-7.
37. Liu YZ, Liu YJ, Recker RR, Deng HW. Molecular studies of gene identification for osteoporosis: the 2002 update. J Endocrinol 2003;177:147-96.
38. Vitole E, Specchia C, Devoto M, Angius A, Rong S, Rocchi M, Schwalb M, Demelas L, Paglietti D, Manca S, Mastropaolo C, Serra G. Novel X-linked mental retardation syndrome with short stature maps to Xq24. Am J Med Genet 2001;103:1-8.
39. Hamel BCJ, Smits APT, Otten BJ, van den Helm B, Ropers HH, Mariman ECM. Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings. Am J Med Genet 1996;64:35-41.
40. Raynaud M, Ronce N, Ayrault AD, Francannet C, Malpuech G, Moraine C. X-linked mental retardation with isolated hormone deficiency is mapped to Xq22-Xq27.2 in one family. Am J Med Genet 1998;76:255-61.
41. Lagerstrom-Femer M, Sundvall M, Johnsen E, Warne GL, Forrest SM, Zajac JD, Rickards A, Ravine D, Landegren U, Pettersson U. X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-26. Am J Hum Genet 1997;60:910-16.
42. Cabezas DA, Slaugh R, Abidi F, Arena JF, Stevenson RE, Schwartz CE, Lubs HA. A new X-linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localizes to Xq24-25. J Med Genet 2000;37:663-8.
43. Smith HF. Test of significance for Mendelian ratios when classification is uncertain. Ann Eugen 1937;8:94-5.
44. Terwilliger JD, Weeks DE, Ott J. Laboratory errors in the reading of marker alleles cause massive reductions in LOD score and lead to gross overestimation of the recombination fraction [abstract]. Am J Hum Genet 1990;(suppl 47):A201.
45. Buetow KH. Influence of aberrant observations on high-resolution linkage analysis outcomes. Am J Hum Genet 1991;49:985-94.
46. Shields DC, Collins A, Buetow KH, Morton NE. Error filtration, interference, and the human linkage map. Proc Natl Acad Sci USA 1991;88:6501-5.
47. Recker RR, Deng HW. Role of genetics in osteoporosis. Endocrine 2002;17:55-66.
48. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996;58:1347-63.
49. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993;52:506-16.