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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

Associations of genetically predicted fatty acid levels across the phenome: A mendelian randomisation study.
Zagkos L, Dib MJ, Pinto R, Gill D, Koskeridis F, Drenos F, Markozannes G, Elliott P, Zuber V, Tsilidis K, Dehghan A, Tzoulaki I
PLoS Med 2022 Dec;19(12):e1004141. Epub 2022 Dec 29 doi: 10.1371/journal.pmed.1004141. PMID: 36580444Free PMC Article
Association of Triglyceride-Lowering LPL Variants and LDL-C-Lowering LDLR Variants With Risk of Coronary Heart Disease.
Ference BA, Kastelein JJP, Ray KK, Ginsberg HN, Chapman MJ, Packard CJ, Laufs U, Oliver-Williams C, Wood AM, Butterworth AS, Di Angelantonio E, Danesh J, Nicholls SJ, Bhatt DL, Sabatine MS, Catapano AL
JAMA 2019 Jan 29;321(4):364-373. doi: 10.1001/jama.2018.20045. PMID: 30694319Free PMC Article
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
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

Associations of genetically predicted fatty acid levels across the phenome: A mendelian randomisation study.
Zagkos L, Dib MJ, Pinto R, Gill D, Koskeridis F, Drenos F, Markozannes G, Elliott P, Zuber V, Tsilidis K, Dehghan A, Tzoulaki I
PLoS Med 2022 Dec;19(12):e1004141. Epub 2022 Dec 29 doi: 10.1371/journal.pmed.1004141. PMID: 36580444Free PMC Article
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
m(6)A RNA Methylation in Cardiovascular Diseases.
Wu S, Zhang S, Wu X, Zhou X
Mol Ther 2020 Oct 7;28(10):2111-2119. Epub 2020 Aug 19 doi: 10.1016/j.ymthe.2020.08.010. PMID: 32910911Free PMC Article
Biological and clinical insights from genetics of insomnia symptoms.
Lane JM, Jones SE, Dashti HS, Wood AR, Aragam KG, van Hees VT, Strand LB, Winsvold BS, Wang H, Bowden J, Song Y, Patel K, Anderson SG, Beaumont RN, Bechtold DA, Cade BE, Haas M, Kathiresan S, Little MA, Luik AI, Loudon AS, Purcell S, Richmond RC, Scheer FAJL, Schormair B, Tyrrell J, Winkelman JW, Winkelmann J; HUNT All In Sleep, Hveem K, Zhao C, Nielsen JB, Willer CJ, Redline S, Spiegelhalder K, Kyle SD, Ray DW, Zwart JA, Brumpton B, Frayling TM, Lawlor DA, Rutter MK, Weedon MN, Saxena R
Nat Genet 2019 Mar;51(3):387-393. Epub 2019 Feb 25 doi: 10.1038/s41588-019-0361-7. PMID: 30804566Free 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

Associations of genetically predicted fatty acid levels across the phenome: A mendelian randomisation study.
Zagkos L, Dib MJ, Pinto R, Gill D, Koskeridis F, Drenos F, Markozannes G, Elliott P, Zuber V, Tsilidis K, Dehghan A, Tzoulaki I
PLoS Med 2022 Dec;19(12):e1004141. Epub 2022 Dec 29 doi: 10.1371/journal.pmed.1004141. PMID: 36580444Free PMC Article
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
Association of Triglyceride-Lowering LPL Variants and LDL-C-Lowering LDLR Variants With Risk of Coronary Heart Disease.
Ference BA, Kastelein JJP, Ray KK, Ginsberg HN, Chapman MJ, Packard CJ, Laufs U, Oliver-Williams C, Wood AM, Butterworth AS, Di Angelantonio E, Danesh J, Nicholls SJ, Bhatt DL, Sabatine MS, Catapano AL
JAMA 2019 Jan 29;321(4):364-373. doi: 10.1001/jama.2018.20045. PMID: 30694319Free 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
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

Associations of genetically predicted fatty acid levels across the phenome: A mendelian randomisation study.
Zagkos L, Dib MJ, Pinto R, Gill D, Koskeridis F, Drenos F, Markozannes G, Elliott P, Zuber V, Tsilidis K, Dehghan A, Tzoulaki I
PLoS Med 2022 Dec;19(12):e1004141. Epub 2022 Dec 29 doi: 10.1371/journal.pmed.1004141. PMID: 36580444Free 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
Association of Genetic Variants Related to Serum Calcium Levels With Coronary Artery Disease and Myocardial Infarction.
Larsson SC, Burgess S, Michaëlsson K
JAMA 2017 Jul 25;318(4):371-380. doi: 10.1001/jama.2017.8981. PMID: 28742912Free 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

Associations of genetically predicted fatty acid levels across the phenome: A mendelian randomisation study.
Zagkos L, Dib MJ, Pinto R, Gill D, Koskeridis F, Drenos F, Markozannes G, Elliott P, Zuber V, Tsilidis K, Dehghan A, Tzoulaki I
PLoS Med 2022 Dec;19(12):e1004141. Epub 2022 Dec 29 doi: 10.1371/journal.pmed.1004141. PMID: 36580444Free PMC Article
A polygenic risk score improves risk stratification of coronary artery disease: a large-scale prospective Chinese cohort study.
Lu X, Liu Z, Cui Q, Liu F, Li J, Niu X, Shen C, Hu D, Huang K, Chen J, Xing X, Zhao Y, Lu F, Liu X, Cao J, Chen S, Ma H, Yu L, Wu X, Wu X, Li Y, Zhang H, Mo X, Zhao L, Huang J, Wang L, Wen W, Shu XO, Takeuchi F, Koh WP, Tai ES, Cheng CY, Wong TY, Chang X, Chan MY, Gao W, Zheng H, Chen K, Chen J, He J, Tang CS, Lam KSL, Tse HF, Cheung CYY, Takahashi A, Kubo M, Kato N, Terao C, Kamatani Y, Sham PC, Heng CK, Hu Z, Chen YE, Wu T, Shen H, Willer CJ, Gu D
Eur Heart J 2022 May 7;43(18):1702-1711. doi: 10.1093/eurheartj/ehac093. PMID: 35195259Free PMC Article
Association of Triglyceride-Lowering LPL Variants and LDL-C-Lowering LDLR Variants With Risk of Coronary Heart Disease.
Ference BA, Kastelein JJP, Ray KK, Ginsberg HN, Chapman MJ, Packard CJ, Laufs U, Oliver-Williams C, Wood AM, Butterworth AS, Di Angelantonio E, Danesh J, Nicholls SJ, Bhatt DL, Sabatine MS, Catapano AL
JAMA 2019 Jan 29;321(4):364-373. doi: 10.1001/jama.2018.20045. PMID: 30694319Free 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
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

Recent systematic reviews

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
Human Validation of Genes Associated With a Murine Atherosclerotic Phenotype.
Pasterkamp G, van der Laan SW, Haitjema S, Foroughi Asl H, Siemelink MA, Bezemer T, van Setten J, Dichgans M, Malik R, Worrall BB, Schunkert H, Samani NJ, de Kleijn DP, Markus HS, Hoefer IE, Michoel T, de Jager SC, Björkegren JL, den Ruijter HM, Asselbergs FW
Arterioscler Thromb Vasc Biol 2016 Jun;36(6):1240-6. Epub 2016 Apr 14 doi: 10.1161/ATVBAHA.115.306958. PMID: 27079880
Association of interleukin-6 gene polymorphism with coronary artery disease: an updated systematic review and cumulative meta-analysis.
Hou H, Wang C, Sun F, Zhao L, Dun A, Sun Z
Inflamm Res 2015 Sep;64(9):707-20. Epub 2015 Jul 15 doi: 10.1007/s00011-015-0850-9. PMID: 26174156
Apolipoprotein E genotype, cardiovascular biomarkers and risk of stroke: systematic review and meta-analysis of 14,015 stroke cases and pooled analysis of primary biomarker data from up to 60,883 individuals.
Khan TA, Shah T, Prieto D, Zhang W, Price J, Fowkes GR, Cooper J, Talmud PJ, Humphries SE, Sundstrom J, Hubacek JA, Ebrahim S, Lawlor DA, Ben-Shlomo Y, Abdollahi MR, Slooter AJ, Szolnoki Z, Sandhu M, Wareham N, Frikke-Schmidt R, Tybjærg-Hansen A, Fillenbaum G, Heijmans BT, Katsuya T, Gromadzka G, Singleton A, Ferrucci L, Hardy J, Worrall B, Rich SS, Matarin M, Whittaker J, Gaunt TR, Whincup P, Morris R, Deanfield J, Donald A, Davey Smith G, Kivimaki M, Kumari M, Smeeth L, Khaw KT, Nalls M, Meschia J, Sun K, Hui R, Day I, Hingorani AD, Casas JP
Int J Epidemiol 2013 Apr;42(2):475-92. doi: 10.1093/ije/dyt034. PMID: 23569189Free PMC Article

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