Genetic association and gene expression profiles of TGFB1 and the contribution of TGFB1 to otosclerosis susceptibility

Journal of Bone and Mineral Research

Volumn 28, Issue 12, 2013, Pages 2490-2497

  Priyadarshi, Saurabh ^a   Ray, Chinmay Sundar ^b   Panda, Khirod Chandra ^c   Desai, Ashim ^d   Nayak, Soumya Ranjan ^b   Biswal, Narayan Chandra ^b   Ramchander, Puppala Venkat ^a  

^a INSTITUTE OF LIFE SCIENCES   (India)

^b SCB MEDICAL COLLEGE   (India)

^c Capital Hospital   (India)

^d Macleods Research and Development Center   (India)

Author keywords

genetic association; otic capsule; otosclerosis; single nucleotide polymorphism; SNP; tgfb1

Indexed keywords

MESSENGER RNA; TRANSFORMING GROWTH FACTOR BETA1;

ARTICLE; BONE GROWTH; CONTROLLED STUDY; DISEASE PREDISPOSITION; GENE EXPRESSION PROFILING; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; OTOSCLEROSIS; PROMOTER REGION; SECONDARY ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STAPES;

GENETIC ASSOCIATION; OTIC CAPSULE; OTOSCLEROSIS; SINGLE-NUCLEOTIDE POLYMORPHISM; SNP; TGFB1;

CASE-CONTROL STUDIES; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; ODDS RATIO; OTOSCLEROSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; REAL-TIME POLYMERASE CHAIN REACTION; RNA, MESSENGER; TRANSFORMING GROWTH FACTOR BETA1;

EID: 84888021579     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.1991     Document Type: Article

References (44)

1. Grayeli AB, Sterkers O, Roulleau P, Elbaz P, Ferrary E, Silve C., Parathyroid hormone-parathyroid hormone-related peptide receptor expression and function in otosclerosis. Am J Physiol. 1999; 277: E1005-2.
2. Ealy M, Smith RJ., The genetics of otosclerosis. Hear Res. 2010; 266: 70-4.
3. Priyadarshi S, Panda KC, Panda AK, Ramchander PV., Lack of association between SNP rs3914132 of the RELN gene and otosclerosis in India. Genet Mol Res. 2010; 9: 1914-20.
4. Markou K, Goudakos J., An overview of the etiology of otosclerosis. Eur Arch Otorhinolaryngol. 2009; 266: 25-35.
5. Bel Hadj Ali I, Thys M, Beltaief N, Schrauwen I, Hilgert N, Vanderstraeten K, Dieltjens N, Mnif E, Hachicha S, Besbes G, Ben Arab S, Van Camp G., A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9. Hum Genet. 2008; 123: 267-72.
6. Brownstein Z, Goldfarb A, Levi H, Frydman M, Avraham KB., Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus. Arch Otolaryngol Head Neck Surg. 2006; 132: 416-24.
7. Chen W, Campbell CA, Green GE, Van Den Bogaert K, Komodikis C, Manolidis LS, Aconomou E, Kyamides Y, Christodoulou K, Faghel C, Giguere CM, Alford RL, Manolidis S, Van Camp G, Smith RJ., Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3. J Med Genet. 2002; 39: 473-7.
8. Thys M, Van Den Bogaert K, Iliadou V, Vanderstraeten K, Dieltjens N, Schrauwen I, Chen W, Eleftheriades N, Grigoriadou M, Pauw RJ, Cremers CR, Smith RJ, Petersen MB, Van Camp G., A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1. Eur J Hum Genet. 2007; 15: 362-8.
9. Tomek MS, Brown MR, Mani SR, Ramesh A, Srisailapathy CR, Coucke P, Zbar RI, Bell AM, McGuirt WT, Fukushima K, Willems PJ, Van Camp G, Smith RJ., Localization of a gene for otosclerosis to chromosome 15q25-q26. Hum Mol Genet. 1998; 7: 285-90.
10. Van Den Bogaert K, De Leenheer EM, Chen W, Lee Y, Nurnberg P, Pennings RJ, Vanderstraeten K, Thys M, Cremers CW, Smith RJ, Van Camp G., A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24. J Med Genet. 2004; 41: 450-3.
11. Van Den Bogaert K, Govaerts PJ, Schatteman I, Brown MR, Caethoven G, Offeciers FE, Somers T, Declau F, Coucke P, Van de Heyning P, Smith RJ, Van Camp G., A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36. Am J Hum Genet. 2001; 68: 495-500.
12. Weegerink NJ, Schrauwen I, Huygen PL, Pennings RJ, Cremers CW, Van Camp G, Kunst HP., Phenotype of the first otosclerosis family linked to OTSC10. Laryngoscope. 2011; 121: 838-45.
13. McKenna MJ, Kristiansen AG, Bartley ML, Rogus JJ, Haines JL., Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta. Am J Otol. 1998; 19: 604-10.
14. Schrauwen I, Ealy M, Huentelman MJ, Thys M, Homer N, Vanderstraeten K, Fransen E, Corneveaux JJ, Craig DW, Claustres M, Cremers CW, Dhooge I, Van de Heyning P, Vincent R, Offeciers E, Smith RJ, Van Camp G., A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. Am J Hum Genet. 2009; 84: 328-38.
15. Schrauwen I, Thys M, Vanderstraeten K, Fransen E, Dieltjens N, Huyghe JR, Ealy M, Claustres M, Cremers CR, Dhooge I, Declau F, Van de Heyning P, Vincent R, Somers T, Offeciers E, Smith RJ, Van Camp G., Association of bone morphogenetic proteins with otosclerosis. J Bone Miner Res. 2008; 23: 507-16.
16. Thys M, Schrauwen I, Vanderstraeten K, Janssens K, Dieltjens N, Van Den Bogaert K, Fransen E, Chen W, Ealy M, Claustres M, Cremers CR, Dhooge I, Declau F, Claes J, Van de Heyning P, Vincent R, Somers T, Offeciers E, Smith RJ, Van Camp G., The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations. Hum Mol Genet. 2007; 16: 2021-30.
17. Khalfallah A, Schrauwen I, Mnaja M, Fransen E, Lahmar I, Ealy M, Dhouib L, Ayadi H, Charfedine I, Driss N, Ghorbel A, Smith RJ, Masmoudi S, Van Camp G., Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia. Ann Hum Genet. 2010; 74: 399-405.
18. Schrauwen I, Ealy M, Fransen E, Vanderstraeten K, Thys M, Meyer NC, Cosgarea M, Huber A, Mazzoli M, Pfister M, Smith RJ, Van Camp G., Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations. Hum Genet. 2010; 127: 155-62.
19. Park BL, Han IK, Lee HS, Kim LH, Kim SJ, Shin HD., Identification of novel variants in transforming growth factor-beta 1 (TGFB1) gene and association analysis with bone mineral density. Hum Mutat. 2003; 22: 257-8.
20. Paradise N, Sanford L, Doetschman T, Friedman R., Developmental expression of the TGF betas in the mouse cochlea. Mech Dev. 1998; 79: 165-8.
21. Clarke B., Normal bone anatomy and physiology. Clin J Am Soc Nephrol. 2008; 3 (Suppl 3): S131-9.
22. Quinn JM, Itoh K, Udagawa N, Hausler K, Yasuda H, Shima N, Mizuno A, Higashio K, Takahashi N, Suda T, Martin TJ, Gillespie MT., Transforming growth factor beta affects osteoclast differentiation via direct and indirect actions. J Bone Miner Res. 2001; 16: 1787-94.
23. Karst M, Gorny G, Galvin RJ, Oursler MJ., Roles of stromal cell RANKL, OPG, and M-CSF expression in biphasic TGF-beta regulation of osteoclast differentiation. J Cell Physiol. 2004; 200: 99-106.
24. Ealy M, Chen W, Ryu GY, Yoon JG, Welling DB, Hansen M, Madan A, Smith RJ., Gene expression analysis of human otosclerotic stapedial footplates. Hear Res. 2008; 240: 80-6.
25. Whitson RH Jr, Wong WL, Itakura K., Platelet factor 4 selectively inhibits binding of TGF-beta 1 to the type I TGF-beta 1 receptor. J Cell Biochem. 1991; 47: 31-42.
26. Berndt SI, Huang WY, Chatterjee N, Yeager M, Welch R, Chanock SJ, Weissfeld JL, Schoen RE, Hayes RB., Transforming growth factor beta 1 (TGFB1) gene polymorphisms and risk of advanced colorectal adenoma. Carcinogenesis. 2007; 28: 1965-70.
27. Khalfallah A, Schrauwen I, Mnejja M, HadjKacem H, Dhouib L, Mosrati MA, Hakim B, Lahmar I, Charfeddine I, Driss N, Ayadi H, Ghorbel A, Van Camp G, Masmoudi S., Association of COL1A1 and TGFB1 polymorphisms with otosclerosis in a Tunisian population. Ann Hum Genet. 2011; 75: 598-604.
28. Lahiri DK., Nurnberger JI Jr. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res. 1991; 19: 5444.
29. Soulitzis N, Karyotis I, Delakas D, Spandidos DA., Expression analysis of peptide growth factors VEGF, FGF2, TGFB1, EGF and IGF1 in prostate cancer and benign prostatic hyperplasia. Int J Oncol. 2006; 29: 305-3014.
30. Rodriguez S, Gaunt TR, Day IN., Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies. Am J Epidemiol. 2009; 169: 505-14.
31. Murakami T, Yamamoto M, Ono K, Nishikawa M, Nagata N, Motoyoshi K, Akatsu T., Transforming growth factor-beta1 increases mRNA levels of osteoclastogenesis inhibitory factor in osteoblastic/stromal cells and inhibits the survival of murine osteoclast-like cells. Biochem Biophys Res Commun. 1998; 252: 747-52.
32. Tang RG, Huang YZ, Yao LM, Xiao J., Lu C, Yu Q. Polymorphisms of transforming growth factor beta 1 (RS#1800468 and RS#1800471) and esophageal squamous cell carcinoma among Zhuangese population. China. Gene. 2013; 512: 1-5.
33. Nagpal K, Sharma S, C BR, Nahid S, Niphadkar PV, Sharma SK, Ghosh B., TGFbeta1 haplotypes and asthma in Indian populations. J Allergy Clin Immunol. 2005; 115: 527-33.
34. Prasad P, Tiwari AK, Kumar KM, Ammini AC, Gupta A, Gupta R, Thelma BK., Association of TGFbeta1, TNFalpha, CCR2 and CCR5 gene polymorphisms in type-2 diabetes and renal insufficiency among Asian Indians. BMC Med Genet. 2007; 8: 20.
35. Tshifularo M, Joseph CA., Otosclerosis and TGF-beta 1 gene in black South Africans. S Afr Med J. 2008; 98: 720-3.
36. Healy J, Dionne J, Belanger H, Lariviere M, Beaulieu P, Labuda D, Sinnett D., Functional impact of sequence variation in the promoter region of TGFB1. Int J Cancer. 2009; 125: 1483-9.
37. Silverman ES, Palmer LJ, Subramaniam V, Hallock A, Mathew S, Vallone J, Faffe DS, Shikanai T, Raby BA, Weiss ST, Shore SA., Transforming growth factor-beta1 promoter polymorphism C-509T is associated with asthma. Am J Respir Crit Care Med. 2004; 169: 214-9.
38. Yamada Y, Miyauchi A, Takagi Y, Tanaka M, Mizuno M, Harada A., Association of the C-509 - > T polymorphism, alone of in combination with the T869 - > C polymorphism, of the transforming growth factor-beta1 gene with bone mineral density and genetic susceptibility to osteoporosis in Japanese women. J Mol Med (Berl). 2001; 79: 149-56.
39. Grainger DJ, Heathcote K, Chiano M, Snieder H, Kemp PR, Metcalfe JC, Carter ND, Spector TD., Genetic control of the circulating concentration of transforming growth factor type beta1. Hum Mol Genet. 1999; 8: 93-7.
40. Kim SJ, Glick A, Sporn MB, Roberts AB., Characterization of the promoter region of the human transforming growth factor-beta 1 gene. J Biol Chem. 1989; 264: 402-8.
41. Luedecking EK, DeKosky ST, Mehdi H, Ganguli M, Kamboh MI., Analysis of genetic polymorphisms in the transforming growth factor-beta1 gene and the risk of Alzheimer's disease. Hum Genet. 2000; 106: 565-9.
42. Crawford DC, Nickerson DA., Definition and clinical importance of haplotypes. Annu Rev Med. 2005; 56: 303-20.
43. Chatterjee S, Pal JK., Role of 5′- and 3′-untranslated regions of mRNAs in human diseases. Biol Cell. 2009; 101: 251-62.
44. Daoud H, Bonnet-Brilhault F, Vedrine S, Demattei MV, Vourc'h P, Bayou N, Andres CR, Barthelemy C, Laumonnier F, Briault S., Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level. Biol Psychiatry. 2009; 66: 906-10.