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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

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
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
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

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
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
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
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
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

Diagnosis

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
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
Sharifi M, Futema M, Nair D, Humphries SE
Curr Cardiol Rep 2019 Apr 22;21(6):43. doi: 10.1007/s11886-019-1130-z. PMID: 31011892Free PMC Article
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
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

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
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
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
Goodarzi MO
Lancet Diabetes Endocrinol 2018 Mar;6(3):223-236. Epub 2017 Sep 14 doi: 10.1016/S2213-8587(17)30200-0. PMID: 28919064
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

Prognosis

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
Sharifi M, Futema M, Nair D, Humphries SE
Curr Cardiol Rep 2019 Apr 22;21(6):43. doi: 10.1007/s11886-019-1130-z. PMID: 31011892Free PMC Article
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
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
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

Clinical prediction guides

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
Sharifi M, Futema M, Nair D, Humphries SE
Curr Cardiol Rep 2019 Apr 22;21(6):43. doi: 10.1007/s11886-019-1130-z. PMID: 31011892Free PMC Article
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
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
Nikpay M, Goel A, Won HH, Hall LM, Willenborg C, Kanoni S, Saleheen D, Kyriakou T, Nelson CP, Hopewell JC, Webb TR, Zeng L, Dehghan A, Alver M, Armasu SM, Auro K, Bjonnes A, Chasman DI, Chen S, Ford I, Franceschini N, Gieger C, Grace C, Gustafsson S, Huang J, Hwang SJ, Kim YK, Kleber ME, Lau KW, Lu X, Lu Y, Lyytikäinen LP, Mihailov E, Morrison AC, Pervjakova N, Qu L, Rose LM, Salfati E, Saxena R, Scholz M, Smith AV, Tikkanen E, Uitterlinden A, Yang X, Zhang W, Zhao W, de Andrade M, de Vries PS, van Zuydam NR, Anand SS, Bertram L, Beutner F, Dedoussis G, Frossard P, Gauguier D, Goodall AH, Gottesman O, Haber M, Han BG, Huang J, Jalilzadeh S, Kessler T, König IR, Lannfelt L, Lieb W, Lind L, Lindgren CM, Lokki ML, Magnusson PK, Mallick NH, Mehra N, Meitinger T, Memon FU, Morris AP, Nieminen MS, Pedersen NL, Peters A, Rallidis LS, Rasheed A, Samuel M, Shah SH, Sinisalo J, Stirrups KE, Trompet S, Wang L, Zaman KS, Ardissino D, Boerwinkle E, Borecki IB, Bottinger EP, Buring JE, Chambers JC, Collins R, Cupples LA, Danesh J, Demuth I, Elosua R, Epstein SE, Esko T, Feitosa MF, Franco OH, Franzosi MG, Granger CB, Gu D, Gudnason V, Hall AS, Hamsten A, Harris TB, Hazen SL, Hengstenberg C, Hofman A, Ingelsson E, Iribarren C, Jukema JW, Karhunen PJ, Kim BJ, Kooner JS, Kullo IJ, Lehtimäki T, Loos RJF, Melander O, Metspalu A, März W, Palmer CN, Perola M, Quertermous T, Rader DJ, Ridker PM, Ripatti S, Roberts R, Salomaa V, Sanghera DK, Schwartz SM, Seedorf U, Stewart AF, Stott DJ, Thiery J, Zalloua PA, O'Donnell CJ, Reilly MP, Assimes TL, Thompson JR, Erdmann J, Clarke R, Watkins H, Kathiresan S, McPherson R, Deloukas P, Schunkert H, Samani NJ, Farrall M
Nat Genet 2015 Oct;47(10):1121-1130. Epub 2015 Sep 7 doi: 10.1038/ng.3396. PMID: 26343387Free PMC Article

Recent systematic reviews

Jiang J, Chen X, Li C, Du X, Zhou H
Gene 2023 Sep 5;880:147613. Epub 2023 Jul 4 doi: 10.1016/j.gene.2023.147613. PMID: 37414350
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
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
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
Tso AR, Merino JG, Warach S
Stroke 2007 Nov;38(11):3070-5. Epub 2007 Oct 4 doi: 10.1161/STROKEAHA.107.492231. PMID: 17916761

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