The chromosome 9p21 CVD- and T2D-associated regions in a Norwegian population (the HUNT2 survey)

International Journal of Endocrinology

Volumn 2015, Issue , 2015, Pages

  Helgeland, Øyvind ^a,b   Hertel, Jens K ^a,b,c   Molven, Anders ^a,b   Ræder, Helge ^a,b   Platou, Carl G P ^d,e   Midthjell, Kristian ^d   Hveem, Kristian ^d   Nygård, Ottar ^a,b   Njølstad, Pål R ^a,b   Johansson, Stefan ^a,b  

^a UNIVERSITY OF BERGEN   (Norway)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^c VESTFOLD HOSPITAL TRUST   (Norway)

^d NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

^e Levanger Hospital   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2B;

ADULT; ANGINA PECTORIS; CARDIOVASCULAR DISEASE; CASE CONTROL STUDY; CEREBROVASCULAR ACCIDENT; CHROMOSOME; CHROMOSOME 9P21; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE PREDISPOSITION; FEMALE; GENETIC ASSOCIATION; GENOTYPE; HAPLOTYPE; HEART INFARCTION; HUMAN; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MALE; MULTILOCUS SEQUENCE TYPING; NON INSULIN DEPENDENT DIABETES MELLITUS; NORWEGIAN (PEOPLE); PRIORITY JOURNAL; REVIEW; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84930676753     PISSN: 16878337     EISSN: 16878345     Source Type: Journal    
DOI: 10.1155/2015/164652     Document Type: Review

References (56)

1. P. R. Burton, D. G. Clayton, L. R. Cardon et al., "Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls," Nature, vol. 447, no. 7145, pp. 661-678, 2007.
2. A.Helgadottir,G.Thorleifsson,A.Manolescu et al., "Acommon variant on chromosome 9p21 affects the risk of myocardial infarction," Science, vol. 316, no. 5830, pp. 1491-1493, 2007.
3. R. McPherson, A. Pertsemlidis, N. Kavaslar et al., "A common allele on chromosome 9 associatedwith coronary heart disease," Science, vol. 316, no. 5830, pp. 1488-1491, 2007.
4. N. J. Samani, J. Erdmann, A. S. Hall et al., "Genomewide association analysis of coronary artery disease," The New England Journal of Medicine, vol. 357, no. 5, pp. 443-453, 2007.
5. A. Helgadottir, G. Thorleifsson, K. P. Magnusson et al., "The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm," Nature Genetics, vol. 40, no. 2, pp. 217-224, 2008.
6. C. Newton-Cheh, N. R. Cook, M. Vandenburgh, E. B. Rimm, P. M. Ridker, and C. M. Albert, "A common variant at 9p21 is associated with sudden and arrhythmic cardiac death," Circulation, vol. 120, no. 21, pp. 2062-2068, 2009.
7. C. L. Sturiale, A. Puca, P. Sebastiani et al., "Single nucleotide polymorphisms associated with sporadic brain arteriovenous malformations: where do we stand?" Brain, vol. 136, no. 2, pp. 665-681, 2013.
8. J. Shea,V.Agarwala, A. A. Philippakis et al., "Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction," Nature Genetics, vol. 43, no. 8, pp. 801-805, 2011.
9. R. Saxena, B. F. Voight, V. Lyssenko et al., "Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels," Science, vol. 316, no. 5829, pp. 1331-1336, 2007.
10. L. J. Scott, K. L.Mohlke, L. L. Bonnycastle et al., "Agenome-wide association study of type 2 diabetes in finns detects multiple susceptibility variants," Science, vol. 316, no. 5829, pp. 1341-1345, 2007.
11. E. Zeggini, M. N. Weedon, C. M. Lindgren et al., "Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes," Science, vol. 316, no. 5829, pp. 1336-1341, 2007.
12. K. Duesing, G. Fatemifar, G. Charpentier et al., "Strong association of common variants in the CDKN2A/CDKN2B region with type 2 diabetes in French Europids," Diabetologia, vol. 51, no. 5, pp. 821-826, 2008.
13. J. K. Hertel, S. Johansson, H. Ræder et al., "Genetic analysis of recently identified type 2 diabetes loci in 1,638 unselected patients with type 2 diabetes and 1,858 control participants from a Norwegian population-based cohort (the HUNT study)," Diabetologia, vol. 51, no. 6, pp. 971-977, 2008.
14. Y. Horikawa, K. Miyake, K. Yasuda et al., "Replication of genome-wide association studies of type 2 diabetes susceptibility in Japan," Journal of Clinical Endocrinology and Metabolism, vol. 93, no. 8, pp. 3136-3141, 2008.
15. M. C. Y. Ng, K. S. Park, B. Oh et al., "Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians," Diabetes, vol. 57, no. 8, pp. 2226-2233, 2008.
16. Y.Wu, H. Li,R. J. F. Loos et al., "Common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, and HHEX/IDE genes are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population," Diabetes, vol. 57, no. 10, pp. 2834-2842, 2008.
17. B. F. Voight, L. J. Scott, V. Steinthorsdottir et al., "Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis,"Nature Genetics, vol. 42,no. 7, pp. 579-589, 2010.
18. H. Schunkert, A. Götz, P. Braund et al., "Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease," Circulation, vol. 117, no. 13, pp. 1675-1684, 2008.
19. T. L. Assimes, J.W. Knowles, A. Basu et al., "Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study," Human Molecular Genetics, vol. 17, no. 15, pp. 2320-2328, 2008.
20. Y. Hiura, Y. Fukushima, M. Yuno et al., "Validation of the association of genetic variants on chromosome 9p21 and 1q41 with myocardial infarction in a Japanese population," Circulation Journal, vol. 72, no. 8, pp. 1213-1217, 2008.
21. M. G. Larson, L. D. Atwood, E. J. Benjamin et al., "Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes," BMCMedical Genetics, vol. 8, no. 1, article S5, 2007.
22. G.-Q. Shen, L. Li, S. Rao et al., "Four SNPs on chromosome 9p21 in a SouthKorean population implicate a genetic locus that confers high cross-race risk for development of coronary artery disease," Arteriosclerosis,Thrombosis, and Vascular Biology, vol. 28, no. 2, pp. 360-365, 2008.
23. G.-Q. Shen, S. Rao, N. Martinelli et al., "Association between four SNPs on chromosome 9p21 and myocardial infarction is replicated in an Italian population," Journal of Human Genetics, vol. 53, no. 2, pp. 144-150, 2008.
24. L. Zhou, X. Zhang, M. He et al., "Associations between single nucleotide polymorphisms on chromosome 9p21 and risk of coronary heart disease in ChineseHan population," Arteriosclerosis, Thrombosis, and Vascular Biology, vol. 28, no. 11, pp. 2085-2089, 2008.
25. K. G. Abdullah, L. Li, G.-Q. Shen et al., "Four SNPS on chromosome 9p21 confer risk to premature, familial CAD and MI in an AmericanCaucasian Population (GeneQuest)," Annals of Human Genetics, vol. 72, no. 5, pp. 654-657, 2008.
26. Z. Chen, Q. Qian, G. Ma et al., "A common variant on chromosome 9p21 affects the risk of early-onset coronary artery disease," Molecular Biology Reports, vol. 36, no. 5, pp. 889-893, 2009.
27. M. Matarin, W. M. Brown, A. Singleton, J. A. Hardy, and J. F. Meschia, "Whole genome analyses suggest ischemic stroke and heart disease share an association with polymorphisms on chromosome 9p21," Stroke, vol. 39, no. 5, pp. 1586-1589, 2008.
28. B. Wahlstrand, M. Orho-Melander, L. Delling et al., "The myocardial infarction associated CDKN2A/CDKN2B locus on chromosome 9p21 is associated with stroke independently of coronary events in patients with hypertension," Journal of Hypertension, vol. 27, no. 4, pp. 769-773, 2009.
29. S. Ye, J. Willeit, F. Kronenberg, Q. Xu, and S. Kiechl, "Association of genetic variation on chromosome 9p21 with susceptibility and progression of atherosclerosis: a populationbased, prospective study," Journal of the American College of Cardiology, vol. 52, no. 5, pp. 378-384, 2008.
30. R. Y. L. Zee and P. M. Ridker, "Two common gene variants on chromosome 9 and risk of atherothrombosis," Stroke, vol. 38, no. 10, article e111, 2007.
31. A. Doria, J. Wojcik, R. Xu et al., "Interaction between poor glycemic control and 9p21 locus on risk of coronary artery disease in type 2 diabetes," Journal of the American Medical Association, vol. 300, no. 20, pp. 2389-2397, 2008.
32. H. M. Broadbent, J. F. Peden, S. Lorkowski et al., "Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p," Human Molecular Genetics, vol. 17, no. 6, pp. 806-814, 2008.
33. B. L. Browning and S. R. Browning, "Haplotypic analysis of wellcome trust case control consortium data," Human Genetics, vol. 123, no. 3, pp. 273-280, 2008.
34. S. Romundstad, J. Holmen, H. Hallan, K. Kvenild, Ø. Krüger, and K. Midthjell, "Microalbuminuria, cardiovascular disease and risk factors in a nondiabetic/nonhypertensive population. The Nord-Trøndelag Health Study (HUNT, 1995-97), Norway," Journal of Internal Medicine, vol. 252, no. 2, pp. 164-172, 2002.
35. S. A. Eide, H. Ræder, S. Johansson et al., "Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study)," Diabetic Medicine, vol. 25, no. 7, pp. 775-781, 2008.
36. J. C. Barrett, B. Fry, J.Maller, andM. J. Daly, "Haploview: analysis and visualization of LDand haplotypemaps," Bioinformatics, vol. 21, no. 2, pp. 263-265, 2005.
37. S. Purcell, B. Neale, K. Todd-Brown et al., "PLINK: a tool set for whole-genome association and population-based linkage analyses," American Journal of Human Genetics, vol. 81, no. 3, pp. 559-575, 2007.
38. R. J. Pruim, R. P. Welch, S. Sanna et al., "LocusZoom: regional visualization of genome-wide association scan results," Bioinformatics, vol. 26, no. 18, pp. 2336-2337, 2010.
39. A. Luna and K. K. Nicodemus, "snp.plotter: an R-based SNP/ haplotype association and linkage disequilibriumplotting package," Bioinformatics, vol. 23, no. 6, pp. 774-776, 2007.
40. S. Purcell, S. S. Cherny, and P. C. Sham, "Genetic power calculator: design of linkage and association geneticmapping studies of complex traits," Bioinformatics, vol. 19, no. 1, pp. 149-150, 2003.
41. D. Cugino, F. Gianfagna, I. Santimone et al., "Type 2 diabetes and polymorphisms on chromosome 9p21: a meta-analysis," Nutrition, Metabolism and Cardiovascular Diseases, vol. 22, no. 8, pp. 619-625, 2012.
42. X. Y. Bao, C. Xie, and M. S. Yang, "Association between type 2 diabetes and CDKN2A/B: a meta-analysis study," Molecular Biology Reports, vol. 39, no. 2, pp. 1609-1616, 2012.
43. F. Peng, D. Hu, C. Gu et al., "The relationship between five widely-evaluated variants in CDKN2A/B and CDKAL1 genes and the risk of type 2 diabetes: a meta-analysis," Gene, vol. 531, no. 2, pp. 435-443, 2013.
44. M. S. Cunnington, M. S. Koref, B. M. Mayosi, J. Burn, and B. Keavney, "Chromosome 9p21 SNPs associated with multiple disease phenotypes correlate with ANRIL expression," PLoS Genetics, vol. 6, no. 4, Article ID e1000899, 2010.
45. A. Congrains, K. Kamide, R. Oguro et al., "Genetic variants at the 9p21 locus contribute to atherosclerosis through modulation of ANRIL and CDKN2A/B," Atherosclerosis, vol. 220, no. 2, pp. 449-455, 2012.
46. S. Dandona, A. F. R. Stewart, L. Chen et al., "Gene dosage of the common variant 9p21 predicts severity of coronary artery disease," Journal of the American College of Cardiology, vol. 56, no. 6, pp. 479-486, 2010.
47. R. S. Patel, S. Su, I. J. Neeland et al., "The chromosome 9p21 risk locus is associated with angiographic severity and progression of coronary artery disease," European Heart Journal, vol. 31, no. 24, pp. 3017-3023, 2010.
48. D. Ardissino, C. Berzuini, P. A. Merlini et al., "Influence of 9p21.3 genetic variants on clinical and angiographic outcomes in early-onset myocardial infarction," Journal of the American College of Cardiology, vol. 58, no. 4, pp. 426-434, 2011.
49. J. L. Anderson and B. D. Horne, "The 9p21 locus and coronary heart disease: initiator, promoter, or precipitator?" Journal of the American College of Cardiology, vol. 56,no. 6, pp. 487-489, 2010.
50. Y. Liu, H. K. Sanoff, H. Cho et al., "INK4/ARF transcript expression is associated with chromosome 9p21 variants linked to atherosclerosis," PLoS ONE, vol. 4, no. 4,Article IDe5027, 2009.
51. L. M. Holdt, F. Beutner, M. Scholz et al., "ANRIL expression is associated with atherosclerosis risk at chromosome 9p21," Arteriosclerosis, Thrombosis, and Vascular Biology, vol. 30, no. 3, pp. 620-627, 2010.
52. W. Zhang, Y. Chen, P. Liu et al., "Variants on chromosome 9p21.3 correlated with ANRIL expression contribute to stroke risk and recurrence in a large prospective stroke population," Stroke, vol. 43, no. 1, pp. 14-21, 2012.
53. O. Harismendy, D. Notani, X. Song et al., "9p21 DNA variants associated with coronary artery disease impair interferon 3 signalling response," Nature, vol. 470, no. 7333, pp. 264-270, 2011.
54. M. A. Ikram, S. Seshadri, J. C. Bis et al., "Genomewide association studies of stroke," The New England Journal of Medicine, vol. 360, no. 17, pp. 1718-1728, 2009.
55. C.D.Anderson, A. Biffi, N. S. Rost, L. Cortellini, K. L. Furie, and J. Rosand, "Chromosome 9p21 in ischemic stroke: population structure and meta-analysis," Stroke, vol. 41, no. 6, pp. 1123-1131, 2010.
56. M. Traylor, M. Farrall, E. G.Holliday et al., "Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE Collaboration): a meta-analysis of genome-wide association studies," The Lancet Neurology, vol. 11, no. 11, pp. 951-962, 2012.