Meta-analysis of the association between single nucleotide polymorphisms in TGF-β receptor genes and abdominal aortic aneurysm

被引：30

作者：

Biros, Erik ^{[1
]}

Norman, Paul E. ^{[2
]}

Jones, Gregory T. ^{[3
]}

van Rij, Andre M. ^{[3
]}

Yu, Grace ^{[3
]}

Moxon, Joseph V. ^{[1
]}

Blankensteijn, Jan D. ^{[4
]}

van Sterkenburg, Steven M. ^{[5
]}

Morris, Dylan ^{[1
]}

Baas, Annette F. ^{[6
,7
]}

Golledge, Jonathan ^{[1
]}

机构：

[1] James Cook Univ, Sch Med, Vasc Biol Unit, Townsville, Qld 4811, Australia

[2] Univ Western Australia, Sch Surg, Fremantle Hosp, Fremantle, WA 6959, Australia

[3] Univ Otago, Dept Surg, Dunedin, New Zealand

[4] VU Med Ctr Amsterdam, Dept Vasc Surg, Amsterdam, Netherlands

[5] Rijnstate Hostipal Arnhem, Dept Vasc Surg, Arnhem, Netherlands

[6] Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands

[7] Univ Med Ctr Utrecht, Julius Ctr Hlth Sci & Primary Care, Utrecht, Netherlands

来源：

ATHEROSCLEROSIS | 2011年 / 219卷 / 01期

基金：

英国医学研究理事会;

关键词：

Abdominal aortic aneurysm; Single nucleotide polymorphism; TGFBR1; TGFBR2; SEQUENCE VARIANT; SUSCEPTIBILITY; PROGRESSION; MICE;

D O I：

10.1016/j.atherosclerosis.2011.07.105

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Objective: The role of transforming growth factor (TGF)-beta in abdominal aortic aneurysm (AAA) is controversial. The aim of this study was to assess the association of single nucleotide polymorphisms (SNPs) within TGFBR1 and TGFBR2 with AAA and infrarenal aortic diameter by combining data from previously published studies. Methods: We performed a meta-analysis using individual subject data from three independent case-control groups from Western Australia (n = 1675), New Zealand (n = 1209), and the Netherlands (n = 1636) with 610, 601, and 693 cases of AAA (maximum infrarenal aortic diameter >= 30 mm), respectively. Data were available for two TGFBR1 (rs10819634, rs1571590) and six TGFBR2 (rs304839, rs1346907, rs1036095, rs9831477, rs9843143, rs764522) SNPs. Results: There was marked heterogeneity between studies. The G alleles of the TGFBR2 rs764522 and rs1036095 SNPs were associated with AAA under a recessive model (OR = 1.69, 95% CI 1.28-2.25, P < 0.001 and OR = 1.59, 95% CI 1.23-2.07, P < 0.001) when a fixed effects model was used. Both associations remained significant after adjustment for multiple testing. Conclusion: This study suggests that two common genetic polymorphisms in TGFBR2 are associated with the risk of developing AAA although this association was mainly driven by findings in the Netherlands group and marked between study heterogeneity was detected. (C) 2011 Elsevier Ireland Ltd. All rights reserved.

引用

页码：218 / 223

页数：6

共 14 条

[1] Association of the TGF-β receptor genes with abdominal aortic aneurysm [J].

Baas, A. F. ;

Medic, J. ;

van't Slot, R. ;

de Kovel, C. G. ;

Zhernakova, A. ;

Geelkerken, R. H. ;

Kranendonk, S. E. ;

van Sterkenburg, S. M. ;

Grobbee, D. E. ;

Boll, A. P. ;

Wijmenga, C. ;

Blankensteijn, J. D. ;

Ruigrok, Y. M. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2010, 18 (02) :240-244

[2] SimHap GUI: An intuitive graphical user interface for genetic association analysis [J].

Carter, Kim W. ;

McCaskie, Pamela A. ;

Palmer, Lyle J. .

BMC BIOINFORMATICS, 2008, 9 (1)

[3] Possible association between genetic polymorphisms in transforming growth factor β receptors, serum transforming growth factor β1 concentration and abdominal aortic aneurysm [J].

Golledge, J. ;

Clancy, P. ;

Jones, G. T. ;

Cooper, M. ;

Palmer, L. J. ;

van Rij, A. M. ;

Norman, P. E. .

BRITISH JOURNAL OF SURGERY, 2009, 96 (06) :628-632

[4] Data extraction errors in meta-analyses that use standardized mean differences [J].

Gotzsche, Peter C. ;

Hrobjartsson, Asbjorn ;

Maric, Katja ;

Tendal, Britta .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2007, 298 (04) :430-437

[5] TGF-β signaling in vascular biology and dysfunction [J].

Goumans, Marie-Jose ;

Liu, Zhen ;

ten Dijke, Peter .

CELL RESEARCH, 2009, 19 (01) :116-127

[6] Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm [J].

Gretarsdottir, Solveig ;

Baas, Annette F. ;

Thorleifsson, Gudmar ;

Holm, Hilma ;

den Heijer, Martin ;

de Vries, Jean-Paul P. M. ;

Kranendonk, Steef E. ;

Zeebregts, Clark J. A. M. ;

van Sterkenburg, Steven M. ;

Geelkerken, Robert H. ;

van Rij, Andre M. ;

Williams, Michael J. A. ;

Boll, Albert P. M. ;

Kostic, Jelena P. ;

Jonasdottir, Adalbjorg ;

Jonasdottir, Aslaug ;

Walters, G. Bragi ;

Masson, Gisli ;

Sulem, Patrick ;

Saemundsdottir, Jona ;

Mouy, Magali ;

Magnusson, Kristinn P. ;

Tromp, Gerard ;

Elmore, James R. ;

Sakalihasan, Natzi ;

Limet, Raymond ;

Defraigne, Jean-Olivier ;

Ferrell, Robert E. ;

Ronkainen, Antti ;

Ruigrok, Ynte M. ;

Wijmenga, Cisca ;

Grobbee, Diederick E. ;

Shah, Svati H. ;

Granger, Christopher B. ;

Quyyumi, Arshed A. ;

Vaccarino, Viola ;

Patel, Riyaz S. ;

Zafari, A. Maziar ;

Levey, Allan I. ;

Austin, Harland ;

Girelli, Domenico ;

Pignatti, Pier Franco ;

Olivieri, Oliviero ;

Martinelli, Nicola ;

Malerba, Giovanni ;

Trabetti, Elisabetta ;

Becker, Lewis C. ;

Becker, Diane M. ;

Reilly, Muredach P. ;

Rader, Daniel J. .

NATURE GENETICS, 2010, 42 (08) :692-U71

[7] The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm [J].

Helgadottir, Anna ;

Thorleifsson, Gudmar ;

Magnusson, Kristinn P. ;

Gretarsdottir, Solveig ;

Steinthorsdottir, Valgerdur ;

Manolescu, Andrei ;

Jones, Gregory T. ;

Rinkel, Gabriel J. E. ;

Blankensteijn, Jan D. ;

Ronkainen, Antti ;

Jaaskelainen, Juha E. ;

Kyo, Yoshiki ;

Lenk, Guy M. ;

Sakalihasan, Natzi ;

Kostulas, Konstantinos ;

Gottsater, Anders ;

Flex, Andrea ;

Stefansson, Hreinn ;

Hansen, Torben ;

Andersen, Gitte ;

Weinsheimer, Shantel ;

Borch-Johnsen, Knut ;

Jorgensen, Torben ;

Shah, Svati H. ;

Quyyumi, Arshed A. ;

Granger, Christopher B. ;

Reilly, Muredach P. ;

Austin, Harland ;

Levey, Allan I. ;

Vaccarino, Viola ;

Palsdottir, Ebba ;

Walters, G. Bragi ;

Jonsdottir, Thorbjorg ;

Snorradottir, Steinunn ;

Magnusdottir, Dana ;

Gudmundsson, Gudmundur ;

Ferrell, Robert E. ;

Sveinbjornsdottir, Sigurlaug ;

Hernesniemi, Juha ;

Niemela, Mika ;

Limet, Raymond ;

Andersen, Karl ;

Sigurdsson, Gunnar ;

Benediktsson, Rafn ;

Verhoeven, Eric L. G. ;

Teijink, Joep A. W. ;

Grobbee, Diederick E. ;

Rader, Daniel J. ;

Collier, David A. ;

Pedersen, Oluf .

NATURE GENETICS, 2008, 40 (02) :217-224

[8] Noncanonical TGFβ Signaling Contributes to Aortic Aneurysm Progression in Marfan Syndrome Mice [J].

Holm, Tammy M. ;

Habashi, Jennifer P. ;

Doyle, Jefferson J. ;

Bedja, Djahida ;

Chen, YiChun ;

van Erp, Christel ;

Lindsay, Mark E. ;

Kim, David ;

Schoenhoff, Florian ;

Cohn, Ronald D. ;

Loeys, Bart L. ;

Thomas, Craig J. ;

Patnaik, Samarjit ;

Marugan, Juan J. ;

Judge, Daniel P. ;

Dietz, Harry C. .

SCIENCE, 2011, 332 (6027) :358-361

[9] A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 [J].

Loeys, BL ;

Chen, JJ ;

Neptune, ER ;

Judge, DP ;

Podowski, M ;

Holm, T ;

Meyers, J ;

Leitch, CC ;

Katsanis, N ;

Sharifi, N ;

Xu, FL ;

Myers, LA ;

Spevak, PJ ;

Cameron, DE ;

De Backer, J ;

Hellemans, J ;

Chen, Y ;

Davis, EC ;

Webb, CL ;

Kress, W ;

Coucke, P ;

Rifkin, DB ;

De Paepe, AM ;

Dietz, HC .

NATURE GENETICS, 2005, 37 (03) :275-281

[10] ACE and TGFBR1 genes interact in influencing the susceptibility to abdominal aortic aneurysm [J].

Lucarini, Laura ;

Sticchi, Elena ;

Sofi, Francesco ;

Pratesi, Giovanni ;

Pratesi, Carlo ;

Pulli, Raffaele ;

Gensini, Gian Franco ;

Abbate, Rosanna ;

Pepe, Guglielmina ;

Fatini, Cinzia .

ATHEROSCLEROSIS, 2009, 202 (01) :205-210

← 1 2 →