Association of the TGF-Β receptor genes with abdominal aortic aneurysm

European Journal of Human Genetics

Volumn 18, Issue 2, 2010, Pages 240-244

  Baas, A F ^a   Medic, J ^a   Van 'T Slot, R ^a   De Kovel, C G ^a   Zhernakova, A ^a   Geelkerken, R H ^b   Kranendonk, S E ^c   Van Sterkenburg, S M ^d   Grobbee, D E ^a   Boll, A P ^e   Wijmenga, C ^a   Blankensteijn, J D ^f,g   Ruigrok, Y M ^h  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b MEDISCH SPECTRUM TWENTE   (Netherlands)

^c CPRLab   (Netherlands)

^d Division of Vascular Surgery   (Netherlands)

^e CANISIUS WILHELMINA HOSPITAL   (Netherlands)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g UNIVERSITY OF AMSTERDAM   (Netherlands)

^h UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Abdominal aortic aneurysm; Association study; TGFBR1; TGFBR2; Transforming growth factor b pathway; Vascular remodeling

Indexed keywords

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

ABDOMINAL AORTA ANEURYSM; AGED; ALLELE; ARTICLE; CONTROLLED STUDY; FEMALE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; POPULATION BASED CASE CONTROL STUDY; POPULATION GENETICS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; THORACIC AORTA ANEURYSM;

AGED; AGED, 80 AND OVER; AORTIC ANEURYSM, ABDOMINAL; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; HUMANS; MALE; MIDDLE AGED; NETHERLANDS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA;

EID: 74449083978     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.141     Document Type: Article

References (30)

1. Sakalihasan N, Limet R, Defawe OD: Abdominal aortic aneurysm. Lancet 2005; 365: 1577-1589.
2. Cornuz J, Sidoti PC, Tevaearai H, Egger M: Risk factors for asymptomatic abdominal aortic aneurysm: systematic review and meta-analysis of population-based screening studies. Eur J Public Health 2004; 14: 343-349.
3. Sandford RM, Bown MJ, London NJ, Sayers RD: The genetic basis of abdominal aortic aneurysms: a review. Eur J Vasc Endovasc Surg 2007; 33: 381-390.
4. Annambhotla S, Bourgeois S, Wang X, Lin PH, Yao Q, Chen C: Recent advances in molecular mechanisms of abdominal aortic aneurysm formation. World J Surg 2008; 32: 976-986.
5. The UK Small Aneurysm Trial Participants: Mortality results for randomised controlled trial of early elective surgery or ultrasonographic surveillance for small abdominal aortic aneurysms. Lancet 1998; 352: 1649-1655.
6. Jones GT, Phillips VL, Harris EL, Rossaak JI, van Rij AM: Functional matrix metalloproteinase-9 polymorphism (C-1562T) associated with abdominal aortic aneurysm. J Vasc Surg 2003; 38: 1363-1367.
7. Ogata T, Shibamura H, Tromp G et al: Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms. J Vasc Surg 2005; 41: 1036-1042.
8. Smallwood L, Allcock R, van Bockxmeer F et al: Polymorphisms of the matrix metalloproteinase 9 gene and abdominal aortic aneurysm. Br J Surg 2008; 95: 1239-1244.
9. Armani C, Curcio M, Barsotti MC et al: Polymorphic analysis of the matrix metallo-proteinase-9 gene and susceptibility to sporadic abdominal aortic aneurysm. Biomed Pharmacother 2007; 61: 268-271.
10. Helgadottir A, Thorleifsson G, Magnusson KP et al: The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intra-cranial aneurysm. Nat Genet 2008; 40: 217-224.
11. Thompson AR, Golledge J, Cooper JA, Hafez H, Norman PE, Humphries SE: Sequence variant on 9p21 is associated with the presence of abdominal aortic aneurysm disease but does not have an impact on aneurysmal expansion. Eur J Hum Genet 2008; Oct 15.
12. Jones JA, Spinale FG, Ikonomidis JS: Transforming growth factor-beta signaling in thoracic aortic aneurysm development: a paradox in pathogenesis. J Vasc Res 2008; 46: 119-137.
13. Mizuguchi T, Collod-Beroud G, Akiyama T et al: Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 2004; 36: 855-860.
14. Singh KK, Rommel K, Mishra A et al: TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Hum Mutat 2006; 27: 770-777.
15. Loeys BL, Schwarze U, Holm T et al: Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006; 355: 788-798.
16. Pannu H, Fadulu VT, Chang J et al: Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation 2005; 112: 513-520.
17. Law C, Bunyan D, Castle B et al: Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene. J Med Genet 2006; 43: 908-916.
18. Hasham SN, Willing MC, Guo DC et al: Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation 2003; 107: 3184-3190.
19. Boll AP, Verbeek AL, van de Lisdonk EH, van der Vliet JA: High prevalence of abdominal aortic aneurysm in a primary care screening programme. Br J Surg 1998; 85: 1090-1094.
20. ten Dijke P, Miyazono K, Heldin CH: Signaling via hetero-oligomeric complexes of type I and type II serine/threonine kinase receptors. Curr Opin Cell Biol 1996; 8: 139-145. (Pubitemid 26109085)
21. Lee B, Godfrey M, Vitale E et al: Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature 1991; 352: 330-334.
22. Dietz HC, Loeys B, Carta L, Ramirez F: Recent progress towards a molecular understanding of Marfan syndrome. Am J Med Genet C Semin Med Genet 2005; 139C: 4-9.
23. Mizuguchi T, Matsumoto N: Recent progress in genetics of Marfan syndrome and Marfan-associated disorders. J Hum Genet 2007; 52: 1-12.
24. Boileau C, Jondeau G, Mizuguchi T, Matsumoto N: Molecular genetics of Marfan syndrome. Curr Opin Cardiol 2005; 20: 194-200.
25. Fukui D, Miyagawa S, Soeda J, Tanaka K, Urayama H, Kawasaki S: Overexpression of transforming growth factor beta1 in smooth muscle cells of human abdominal aortic aneurysm. Eur J Vasc Endovasc Surg 2003; 25: 540-545.
26. Dai J, Losy F, Guinault AM et al: Overexpression of transforming growth factor-beta1 stabilizes already-formed aortic aneurysms: a first approach to induction of functional healing by endovascular gene therapy. Circulation 2005; 112: 1008-1015.
27. Habashi JP, Judge DP, Holm TM et al: Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006; 312: 117-125.
28. Lucarini L, Sticchi E, Sofi F et al: ACE and TGFBR1 genes interact in influencing the susceptibility to abdominal aortic aneurysm. Atherosclerosis 2009; 202: 205-210.
29. Golledge J, Clancy P, Jones GT: Possible association between genetic polymorphisms in transforming growth factor b receptors, serum transforming growth factor b1 and abdominal aortic aneurysm. BJS 2009; 96: 628-632.
30. Santiago-Sim T, Mathew-Joseph S, Pannu H et al: Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm. Stroke 2009; 40: 1604-1611.