Resequencing of genes for transforming growth factor β1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy

BMC Medical Genetics

Volumn 8, Issue , 2007, Pages

  McKnight, Amy Jayne ^a,b   Savage, David A ^a   Patterson, Chris C ^a   Sadlier, Denise ^c   Maxwell, A Peter ^a  

^a QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c UNIVERSITY COLLEGE DUBLIN   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2; TRANSFORMING GROWTH FACTOR BETA1;

ADULT; ARTICLE; CHI SQUARE TEST; CONTINGENCY TABLE; CONTROLLED STUDY; DIABETIC NEPHROPATHY; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; IRELAND; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PROTEIN FUNCTION; RECEPTOR INTRINSIC ACTIVITY; SINGLE NUCLEOTIDE POLYMORPHISM; UPREGULATION;

ACTIVIN RECEPTORS, TYPE I; ADOLESCENT; ADULT; CASE-CONTROL STUDIES; DIABETES MELLITUS, TYPE 1; DIABETIC NEPHROPATHIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; MALE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA1;

EID: 33847678653     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-8-5     Document Type: Article

References (40)

1. USRDS 2005 United States Renal Data System, Annual Data Report (ADR) Atlas 2005 http://www.usrds.org/adr.htm
2. Seaquist ER Goetz FC Rich S Barbosa J Familial clustering of diabetic kidney disease. Evidence for genetic susceptibility to diabetic nephropathy N Engl J Med 1989 320 18 1161-1165 2710189
3. Quinn M Angelico MC Warram JH Krolewski A Familial factors determine the development of diabetic nephropathy in patients with IDDM Diabetologia 1996 39 8 940-945 8858216
4. Krolewski M Eggers PW Warram JH Magnitude of end-stage renal disease in IDDM: A 35 year follow-up study Kidney Int 1996 50 6 2041-2046 8943488
5. Khoury MJ Beaty TH Liang KY Can familial aggregation of disease be explained by familial aggregation of environmental risk factors? Am J Epidemiol 1988 127 3 674-683 3341366
6. Reeves WB Andreoli TE Transforming growth factor beta contributes to progressive diabetic nephropathy Proc Natl Acad Sci USA 2000 97 14 7667-7669 33997 10884396 10.1073/pnas.97.14.7667
7. Yamamoto T Nakamura T Noble NA Ruoslahti E Border WA Expression of transforming growth factor beta is elevated in human and experimental diabetic nephropathy Proc Natl Acad Sci USA 1993 90 5 1814-1818 45970 7680480 10.1073/pnas.90.5.1814
8. Hoffman BB Sharma K Zhu Y Ziyadeh FN Transcriptional activation of transforming growth factor-beta1 in mesangial cell culture by high glucose concentration Kidney Int 1998 54 4 1107-1116 10.1046/ j.1523-1755.1998.00119.x 9767526
9. Isaka Y Fujiwara Y Ueda N Kaneda Y Kamada T Imai E Glomerulosclerosis induced by in vivo transfection of transforming growth factor-beta or platelet-derived growth factor gene into the rat kidney J Clin Invest 1993 92 6 2597-2601 288455 8254017
10. Kopp JB Factor VM Mozes M Nagy P Sanderson N Bottinger EP Klotman PE Thorgeirsson SS Transgenic mice with increased plasma levels of TGF-beta 1 develop progressive renal disease Lab Invest 1996 74 6 991-1003 8667617
11. Ziyadeh FN Hoffman BB Han DC Iglesias-De La Cruz MC Hong SW Isono M Chen S McGowan TA Sharma K Long-term prevention of renal insufficiency, excess matrix gene expression, and glomerular mesangial matrix expansion by treatment with monoclonal antitransforming growth factor-beta antibody in db/db diabetic mice Proc Natl Acad Sci USA 2000 97 14 8015-8020 16662 10859350 10.1073/pnas.120055097
12. Han DC Hoffman BB Hong SW Guo J Ziyadeh FN Therapy with antisense TGF-beta1 oligodeoxynucleotides reduces kidney weight and matrix mRNAs in diabetic mice Am J Physiol Renal Physiol 2000 278 4 F628-F634 10751224
13. Shankland SJ Pippin J Pichler RH Gordon KL Friedman S Gold LI Johnson RJ Couser WG Differential expression of transforming growth factor-beta isoforms and receptors in experimental membranous nephropathy Kidney Int 1996 50 1 116-124 8807580
14. Yamamoto T Watanabe T Ikegaya N Fujigaki Y Matsui K Masaoka H Nagase M Hishida A Expression of types I, II, and III TGF-beta receptors in human glomerulonephritis J Am Soc Nephrol 1998 9 12 2253-2261 9848779
15. Yang YL Guh JY Yang ML Lai YH Tsai JH Hung WC Chang CC Chuang LY Interaction between high glucose and TGF-beta in cell cycle protein regulations in MDCK cells J Am Soc Nephrol 1998 9 2 182-193 9527394
16. Isono M Mogyorosi A Han DC Hoffman BB Ziyadeh FN Stimulation of TGF-beta type II receptor by high glucose in mouse mesangial cells and in diabetic kidney Am J Physiol Renal Physiol 2000 278 5 F830-F838 10807596
17. Fujii D Brissenden JE Derynck R Francke U Transforming growth factor beta gene maps to human chromosome 19 long arm and to mouse chromosome 7 Somat Cell Mol Genet 1986 12 3 281-288 10.1007/BF01570787 3459257
18. McKnight AJ Savage DA Patterson CC Brady HR Maxwell AP Resequencing of the characterised CTGF gene to identify novel or known variants and analysis of their association with diabetic nephropathy J Hum Genet 2006 51 4 383-386 10.1007/s10038-006-0368-7 16501850
19. National Centre for Biotechnology Information http://www.ncbi.nlm.nih.gov
20. Genome Variation Society recommendations for coding sequences http://www.genomic.unimelb.edu.au/mdi/mutnomen/recs.html#DNA
21. Boreham C Savage JM Primrose D Cran G Strain J Coronary risk factors in school-children Arch Dis Child 1993 68 182-186 8481039
22. Barrett JC Fry B Maller J Daly MJ Haploview: Analysis and visualization of LD and haplotype maps Bioinformatics 2005 21 2 263-265 10.1093/ bioinformatics/bth457 15297300
23. Derynck R Rhee L Chen EY van Tilburg A Intron-exon structure of the human transforming growth factor-beta precursor gene Nucleic Acids Res 1987 15 7 3188-3189 340929 3470709 10.1093/nar/15.7.3188
24. 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 1 402-408 2909528
25. Cambien F Ricard S Troesch A Mallet C Generenaz L Evans A Arveiler D Luc G Ruidavets JB Poirier O Polymorphisms of the transforming growth factor-beta 1 gene in relation to myocardial infarction and blood pressure. The Etude Cas-Temoin de l'Infarctus du Myocarde (ECTIM) Study Hypertension 1996 28 5 881-887 8901839
26. 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 1 93-97 10.1093/hmg/8.1.93 9887336
27. Awad MR El Gamel A Hasleton P Turner DM Sinnott PJ Hutchinson IV Genotypic variation in the transforming growth factor-beta1 gene: association with transforming growth factor-beta1 production, fibrotic lung disease, and graft fibrosis after lung transplantation Transplantation 1998 66 8 1014-1020 10.1097/00007890-199810270-00009 9808485
28. Lympany PA Avila JJ Mullighan C Marshall S Welsh KI du Bois RM Rapid genotyping of transforming growth factor beta1 gene polymorphisms in a UK Caucasoid control population using the polymerase chain reaction and sequence-specific primers Tissue Antigens 1998 52 6 573-578 9894857
29. Syrris P Carter ND Metcalfe JC Kemp PR Grainger DJ Kaski JC Crossman DC Francis SE Gunn J Jeffery S Heathcote K Transforming growth factor-beta1 gene polymorphisms and coronary artery disease Clin Sci (Lond) 1998 95 6 659-667 9831690
30. HapMap http://www.HapMap.org accessed 12/10/06
31. Wong TY Poon P Chow KM Szeto CC Cheung MK Li PK Association of transforming growth factor-beta (TGF-beta) T869C (Leu10Pro) gene polymorphisms with type 2 diabetic nephropathy in Chinese Kidney Int 2003 63 5 1831-1835 10.1046/j.1523-1755.2003.00919.x 12675860
32. Doria A Warram JH Krolewski AS Genetic susceptibility to nephropathy in insulin-dependent diabetes: From epidemiology to molecular genetics Diabetes Metab Rev 1995 11 4 287-314 8718493
33. Mogensen CE How to protect the kidney in diabetic patients: With special reference to IDDM Diabetes 1997 46 Suppl 2 S104-S111 9285510
34. Ng DP Warram JH Krolewski AS TGF-beta 1 as a genetic susceptibility locus for advanced diabetic nephropathy in type 1 diabetes mellitus: An investigation of multiple known DNA sequence variants Am J Kidney Dis 2003 41 1 22-28 10.1053/ajkd.2003.50011 12500218
35. Patel A Scott WR Lympany PA Rippin JD Gill GV Barnett AH Bain SC Warren 3/UK GoKind Study Group The TGF-beta 1 gene codon 10 polymorphism contributes to the genetic predisposition to nephropathy in Type 1 diabetes Diabet Med 2005 22 1 69-73 10.1111/j.1464-5491.2005.01376.x 15606694
36. Bain SC Gill GV Dyer PH Jones AF Murphy M Jones KE Smyth C Barnett AH Characteristics of type 1 diabetes of over 50 years duration (the Golden Years Cohort) Diabet Med 2003 20 808-811 10.1046/ j.1464-5491.2003.01029.x 14510860
37. Han G Lu SL Li AG He W Corless CL Kulesz-Martin M Wang XJ Distinct mechanisms of TGF-beta1-mediated epithelial-to-mesenchymal transition and metastasis during skin carcinogenesis J Clin Invest 2005 115 7 1714-1723 1142114 15937546 10.1172/JCI24399
38. Johnson DW Qumsiyeh M Benkhalifa M Marchuk DA Assignment of human transforming growth factor-beta type I and type III receptor genes (TGFBR1 and TGFBR3) to 9q33-q34 and 1p32-p33, respectively Genomics 1995 28 2 356-357 10.1006/geno.1995.1157 8530052
39. Matthew S Murty VV Cheifetz S George D Massague J Chaganti RS Transforming growth factor receptor gene TGFBR2 maps to human chromosome band 3p22 Genomics 1994 20 1 114-115 10.1006/geno.1994.1134 8020936
40. Mori M Yamada R Kobayashi K Kawaida R Yamamoto K Ethnic differences in allele frequency of autoimmune-disease-associated SNPs J Hum Genet 2005 50 5 264-266 10.1007/s10038-005-0246-8 15883854