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Coronary heart disease, susceptibility to, 6(CHDS6)

MedGen UID:
482543
•Concept ID:
C3280913
•
Finding
Synonym: Coronary heart disease 6
 
Gene (location): MMP3 (11q22.2)
 
Monarch Initiative: MONDO:0013765
OMIM®: 614466

Definition

Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene. [from MONDO]

Professional guidelines

PubMed

First International Consensus on the diagnosis and management of fibromuscular dysplasia.
Gornik HL, Persu A, Adlam D, Aparicio LS, Azizi M, Boulanger M, Bruno RM, de Leeuw P, Fendrikova-Mahlay N, Froehlich J, Ganesh SK, Gray BH, Jamison C, Januszewicz A, Jeunemaitre X, Kadian-Dodov D, Kim ES, Kovacic JC, Mace P, Morganti A, Sharma A, Southerland AM, Touzé E, van der Niepen P, Wang J, Weinberg I, Wilson S, Olin JW, Plouin PF
Vasc Med 2019 Apr;24(2):164-189. Epub 2019 Jan 16 doi: 10.1177/1358863X18821816. PMID: 30648921
Clinical Application of Genetic Testing in Heart Failure.
Morales A, Hershberger R
Curr Heart Fail Rep 2017 Dec;14(6):543-553. doi: 10.1007/s11897-017-0366-4. PMID: 29063279Free PMC Article
Expert consensus guidelines: Anomalous aortic origin of a coronary artery.
Brothers JA, Frommelt MA, Jaquiss RDB, Myerburg RJ, Fraser CD Jr, Tweddell JS
J Thorac Cardiovasc Surg 2017 Jun;153(6):1440-1457. Epub 2017 Feb 4 doi: 10.1016/j.jtcvs.2016.06.066. PMID: 28274557

Recent clinical studies

Etiology

Daily stair climbing, disease susceptibility, and risk of atherosclerotic cardiovascular disease: A prospective cohort study.
Song Z, Wan L, Wang W, Li Y, Zhao Y, Zhuang Z, Dong X, Xiao W, Huang N, Xu M, Clarke R, Qi L, Huang T
Atherosclerosis 2023 Dec;386:117300. Epub 2023 Sep 16 doi: 10.1016/j.atherosclerosis.2023.117300. PMID: 37813749
Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease.
Jaiswal S, Natarajan P, Silver AJ, Gibson CJ, Bick AG, Shvartz E, McConkey M, Gupta N, Gabriel S, Ardissino D, Baber U, Mehran R, Fuster V, Danesh J, Frossard P, Saleheen D, Melander O, Sukhova GK, Neuberg D, Libby P, Kathiresan S, Ebert BL
N Engl J Med 2017 Jul 13;377(2):111-121. Epub 2017 Jun 21 doi: 10.1056/NEJMoa1701719. PMID: 28636844Free PMC Article
Mendelian randomization in cardiometabolic disease: challenges in evaluating causality.
Holmes MV, Ala-Korpela M, Smith GD
Nat Rev Cardiol 2017 Oct;14(10):577-590. Epub 2017 Jun 1 doi: 10.1038/nrcardio.2017.78. PMID: 28569269Free PMC Article
Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease.
Khera AV, Emdin CA, Drake I, Natarajan P, Bick AG, Cook NR, Chasman DI, Baber U, Mehran R, Rader DJ, Fuster V, Boerwinkle E, Melander O, Orho-Melander M, Ridker PM, Kathiresan S
N Engl J Med 2016 Dec 15;375(24):2349-2358. Epub 2016 Nov 13 doi: 10.1056/NEJMoa1605086. PMID: 27959714Free PMC Article
Effect of long-term exposure to lower low-density lipoprotein cholesterol beginning early in life on the risk of coronary heart disease: a Mendelian randomization analysis.
Ference BA, Yoo W, Alesh I, Mahajan N, Mirowska KK, Mewada A, Kahn J, Afonso L, Williams KA Sr, Flack JM
J Am Coll Cardiol 2012 Dec 25;60(25):2631-9. Epub 2012 Oct 17 doi: 10.1016/j.jacc.2012.09.017. PMID: 23083789

Diagnosis

Daily stair climbing, disease susceptibility, and risk of atherosclerotic cardiovascular disease: A prospective cohort study.
Song Z, Wan L, Wang W, Li Y, Zhao Y, Zhuang Z, Dong X, Xiao W, Huang N, Xu M, Clarke R, Qi L, Huang T
Atherosclerosis 2023 Dec;386:117300. Epub 2023 Sep 16 doi: 10.1016/j.atherosclerosis.2023.117300. PMID: 37813749
Smoking and heart failure: a Mendelian randomization and mediation analysis.
Lu Y, Xu Z, Georgakis MK, Wang Z, Lin H, Zheng L
ESC Heart Fail 2021 Jun;8(3):1954-1965. Epub 2021 Mar 3 doi: 10.1002/ehf2.13248. PMID: 33656795Free PMC Article
Evaluating the relationship between alcohol consumption, tobacco use, and cardiovascular disease: A multivariable Mendelian randomization study.
Rosoff DB, Davey Smith G, Mehta N, Clarke TK, Lohoff FW
PLoS Med 2020 Dec;17(12):e1003410. Epub 2020 Dec 4 doi: 10.1371/journal.pmed.1003410. PMID: 33275596Free PMC Article
Cardiac Troponin T and Troponin I in the General Population.
Welsh P, Preiss D, Hayward C, Shah ASV, McAllister D, Briggs A, Boachie C, McConnachie A, Padmanabhan S, Welsh C, Woodward M, Campbell A, Porteous D, Mills NL, Sattar N
Circulation 2019 Jun 11;139(24):2754-2764. Epub 2019 Apr 24 doi: 10.1161/CIRCULATIONAHA.118.038529. PMID: 31014085Free PMC Article
First International Consensus on the diagnosis and management of fibromuscular dysplasia.
Gornik HL, Persu A, Adlam D, Aparicio LS, Azizi M, Boulanger M, Bruno RM, de Leeuw P, Fendrikova-Mahlay N, Froehlich J, Ganesh SK, Gray BH, Jamison C, Januszewicz A, Jeunemaitre X, Kadian-Dodov D, Kim ES, Kovacic JC, Mace P, Morganti A, Sharma A, Southerland AM, Touzé E, van der Niepen P, Wang J, Weinberg I, Wilson S, Olin JW, Plouin PF
Vasc Med 2019 Apr;24(2):164-189. Epub 2019 Jan 16 doi: 10.1177/1358863X18821816. PMID: 30648921

Therapy

Smoking and heart failure: a Mendelian randomization and mediation analysis.
Lu Y, Xu Z, Georgakis MK, Wang Z, Lin H, Zheng L
ESC Heart Fail 2021 Jun;8(3):1954-1965. Epub 2021 Mar 3 doi: 10.1002/ehf2.13248. PMID: 33656795Free PMC Article
Sleep Duration and Myocardial Infarction.
Daghlas I, Dashti HS, Lane J, Aragam KG, Rutter MK, Saxena R, Vetter C
J Am Coll Cardiol 2019 Sep 10;74(10):1304-1314. doi: 10.1016/j.jacc.2019.07.022. PMID: 31488267Free PMC Article
First International Consensus on the diagnosis and management of fibromuscular dysplasia.
Gornik HL, Persu A, Adlam D, Aparicio LS, Azizi M, Boulanger M, Bruno RM, de Leeuw P, Fendrikova-Mahlay N, Froehlich J, Ganesh SK, Gray BH, Jamison C, Januszewicz A, Jeunemaitre X, Kadian-Dodov D, Kim ES, Kovacic JC, Mace P, Morganti A, Sharma A, Southerland AM, Touzé E, van der Niepen P, Wang J, Weinberg I, Wilson S, Olin JW, Plouin PF
Vasc Med 2019 Apr;24(2):164-189. Epub 2019 Jan 16 doi: 10.1177/1358863X18821816. PMID: 30648921
Mendelian randomization in cardiometabolic disease: challenges in evaluating causality.
Holmes MV, Ala-Korpela M, Smith GD
Nat Rev Cardiol 2017 Oct;14(10):577-590. Epub 2017 Jun 1 doi: 10.1038/nrcardio.2017.78. PMID: 28569269Free PMC Article
Effect of long-term exposure to lower low-density lipoprotein cholesterol beginning early in life on the risk of coronary heart disease: a Mendelian randomization analysis.
Ference BA, Yoo W, Alesh I, Mahajan N, Mirowska KK, Mewada A, Kahn J, Afonso L, Williams KA Sr, Flack JM
J Am Coll Cardiol 2012 Dec 25;60(25):2631-9. Epub 2012 Oct 17 doi: 10.1016/j.jacc.2012.09.017. PMID: 23083789

Prognosis

Sleep Duration and Myocardial Infarction.
Daghlas I, Dashti HS, Lane J, Aragam KG, Rutter MK, Saxena R, Vetter C
J Am Coll Cardiol 2019 Sep 10;74(10):1304-1314. doi: 10.1016/j.jacc.2019.07.022. PMID: 31488267Free PMC Article
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.
Khera AV, Chaffin M, Aragam KG, Haas ME, Roselli C, Choi SH, Natarajan P, Lander ES, Lubitz SA, Ellinor PT, Kathiresan S
Nat Genet 2018 Sep;50(9):1219-1224. Epub 2018 Aug 13 doi: 10.1038/s41588-018-0183-z. PMID: 30104762Free PMC Article
Associations of Combined Genetic and Lifestyle Risks With Incident Cardiovascular Disease and Diabetes in the UK Biobank Study.
Said MA, Verweij N, van der Harst P
JAMA Cardiol 2018 Aug 1;3(8):693-702. doi: 10.1001/jamacardio.2018.1717. PMID: 29955826Free PMC Article
Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease.
Khera AV, Emdin CA, Drake I, Natarajan P, Bick AG, Cook NR, Chasman DI, Baber U, Mehran R, Rader DJ, Fuster V, Boerwinkle E, Melander O, Orho-Melander M, Ridker PM, Kathiresan S
N Engl J Med 2016 Dec 15;375(24):2349-2358. Epub 2016 Nov 13 doi: 10.1056/NEJMoa1605086. PMID: 27959714Free PMC Article
Effect of long-term exposure to lower low-density lipoprotein cholesterol beginning early in life on the risk of coronary heart disease: a Mendelian randomization analysis.
Ference BA, Yoo W, Alesh I, Mahajan N, Mirowska KK, Mewada A, Kahn J, Afonso L, Williams KA Sr, Flack JM
J Am Coll Cardiol 2012 Dec 25;60(25):2631-9. Epub 2012 Oct 17 doi: 10.1016/j.jacc.2012.09.017. PMID: 23083789

Clinical prediction guides

Daily stair climbing, disease susceptibility, and risk of atherosclerotic cardiovascular disease: A prospective cohort study.
Song Z, Wan L, Wang W, Li Y, Zhao Y, Zhuang Z, Dong X, Xiao W, Huang N, Xu M, Clarke R, Qi L, Huang T
Atherosclerosis 2023 Dec;386:117300. Epub 2023 Sep 16 doi: 10.1016/j.atherosclerosis.2023.117300. PMID: 37813749
Sleep Duration and Myocardial Infarction.
Daghlas I, Dashti HS, Lane J, Aragam KG, Rutter MK, Saxena R, Vetter C
J Am Coll Cardiol 2019 Sep 10;74(10):1304-1314. doi: 10.1016/j.jacc.2019.07.022. PMID: 31488267Free PMC Article
Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease.
Khera AV, Emdin CA, Drake I, Natarajan P, Bick AG, Cook NR, Chasman DI, Baber U, Mehran R, Rader DJ, Fuster V, Boerwinkle E, Melander O, Orho-Melander M, Ridker PM, Kathiresan S
N Engl J Med 2016 Dec 15;375(24):2349-2358. Epub 2016 Nov 13 doi: 10.1056/NEJMoa1605086. PMID: 27959714Free PMC Article
Effect of long-term exposure to lower low-density lipoprotein cholesterol beginning early in life on the risk of coronary heart disease: a Mendelian randomization analysis.
Ference BA, Yoo W, Alesh I, Mahajan N, Mirowska KK, Mewada A, Kahn J, Afonso L, Williams KA Sr, Flack JM
J Am Coll Cardiol 2012 Dec 25;60(25):2631-9. Epub 2012 Oct 17 doi: 10.1016/j.jacc.2012.09.017. PMID: 23083789
Number of coronary heart disease risk factors and mortality in patients with first myocardial infarction.
Canto JG, Kiefe CI, Rogers WJ, Peterson ED, Frederick PD, French WJ, Gibson CM, Pollack CV Jr, Ornato JP, Zalenski RJ, Penney J, Tiefenbrunn AJ, Greenland P; NRMI Investigators
JAMA 2011 Nov 16;306(19):2120-7. doi: 10.1001/jama.2011.1654. PMID: 22089719Free PMC Article

Recent systematic reviews

Long-term health consequences of central precocious/early puberty (CPP) and treatment with Gn-RH analogue: a short update.
Soliman AT, Alaaraj N, De Sanctis V, Hamed N, Alyafei F, Ahmed S
Acta Biomed 2023 Dec 5;94(6):e2023222. doi: 10.23750/abm.v94i6.15316. PMID: 38054666Free PMC Article
Life-threatening cardiac arrhythmia and sudden death during electronic gaming: An international case series and systematic review.
Lawley CM, Tester M, Sanatani S, Prendiville T, Beach CM, Vinocur JM, Horie M, Uhm JS, Khongphatthanayothin A, Ayers MD, Starling L, Yoshida Y, Shah MJ, Skinner JR, Turner C
Heart Rhythm 2022 Nov;19(11):1826-1833. Epub 2022 Oct 11 doi: 10.1016/j.hrthm.2022.08.003. PMID: 37850595
Associations between genetic variations in microRNA and myocardial infarction susceptibility: a meta-analysis and systematic review.
Yang Y, Shi X, Du Z, Zhou G, Zhang X
Herz 2022 Dec;47(6):524-535. Epub 2021 Dec 8 doi: 10.1007/s00059-021-05086-3. PMID: 34878577
Association between DNA methylation and coronary heart disease or other atherosclerotic events: A systematic review.
Fernández-Sanlés A, Sayols-Baixeras S, Subirana I, Degano IR, Elosua R
Atherosclerosis 2017 Aug;263:325-333. Epub 2017 May 18 doi: 10.1016/j.atherosclerosis.2017.05.022. PMID: 28577936
Causal Effect of Plasminogen Activator Inhibitor Type 1 on Coronary Heart Disease.
Song C, Burgess S, Eicher JD, O'Donnell CJ, Johnson AD
J Am Heart Assoc 2017 May 26;6(6) doi: 10.1161/JAHA.116.004918. PMID: 28550093Free PMC Article

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