Angiotensin-converting enzyme insertion/deletion polymorphism in hypertrophic cardiomyopathy: An Egyptian case control study
Hypertrophic Cardiomyopathy (HCM) is a disease characterized by genetic and phenotypic heterogeneity. Renin–angiotensin–aldosteron be system (RAAS) is a potential disease modifier. The aim of the present case control study is evaluation of the controversial role of ACE I/D polymorphism in HCM among...
Uloženo v:
| Vydáno v: | The Egyptian heart journal Ročník 66; číslo 1; s. 1 - 2 |
|---|---|
| Hlavní autoři: | , , , , , , , |
| Médium: | Journal Article |
| Jazyk: | angličtina |
| Vydáno: |
Elsevier B.V
01.03.2014
SpringerOpen |
| Témata: | |
| ISSN: | 1110-2608, 2090-911X |
| On-line přístup: | Získat plný text |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!
|
| Abstract | Hypertrophic Cardiomyopathy (HCM) is a disease characterized by genetic and phenotypic heterogeneity. Renin–angiotensin–aldosteron be system (RAAS) is a potential disease modifier. The aim of the present case control study is evaluation of the controversial role of ACE I/D polymorphism in HCM among Egyptians.
The study comprised 211 unrelated HCM patients (138 sporadic, 73 familial) and 203 age and sex matched ECG screened healthy volunteers. ACE I/D polymorphism was determined using previously described PCR and gel electrophoresis based method.
Distribution of ACE genotype among the Egyptian controls was in Hardy-Weinberg equilibrium (P=0.778) but not in HCM patients (P=0.0010). The ACE DD genotype was significantly higher among HCM patients (P=0.049), particularly in sporadic HCM group compared with familial cases (P=0.0001). In addition, the distribution of D allele was significantly higher in HCM patients carrying sarcomeric mutations in TNNT2 and MYH7, (P=0.0476). There was no observed significant effect of the ACE genotypes on the phenotypic expression of the disease.
The finding of higher frequency of DD genotype among HCM patients compared to healthy volunteers, particularly so, in sporadic cases suggests that HCM expression is possibly influenced by a genetically predisposed milieu partially determined by the ACE I/D variants. Despite the lack of significant correlation between I/D variants and clinicopathologic characteristics of the HCM patients, however, the higher prevalence of D allele among TNNT2 and MYH7 mutation carriers may contribute to the variable disease outcome among sarcomeric gene positive cases, such a correlation can only be proven through long term follow up studies. |
|---|---|
| AbstractList | Hypertrophic Cardiomyopathy (HCM) is a disease characterized by genetic and phenotypic heterogeneity. Renin–angiotensin–aldosteron be system (RAAS) is a potential disease modifier. The aim of the present case control study is evaluation of the controversial role of ACE I/D polymorphism in HCM among Egyptians.
The study comprised 211 unrelated HCM patients (138 sporadic, 73 familial) and 203 age and sex matched ECG screened healthy volunteers. ACE I/D polymorphism was determined using previously described PCR and gel electrophoresis based method.
Distribution of ACE genotype among the Egyptian controls was in Hardy-Weinberg equilibrium (P=0.778) but not in HCM patients (P=0.0010). The ACE DD genotype was significantly higher among HCM patients (P=0.049), particularly in sporadic HCM group compared with familial cases (P=0.0001). In addition, the distribution of D allele was significantly higher in HCM patients carrying sarcomeric mutations in TNNT2 and MYH7, (P=0.0476). There was no observed significant effect of the ACE genotypes on the phenotypic expression of the disease.
The finding of higher frequency of DD genotype among HCM patients compared to healthy volunteers, particularly so, in sporadic cases suggests that HCM expression is possibly influenced by a genetically predisposed milieu partially determined by the ACE I/D variants. Despite the lack of significant correlation between I/D variants and clinicopathologic characteristics of the HCM patients, however, the higher prevalence of D allele among TNNT2 and MYH7 mutation carriers may contribute to the variable disease outcome among sarcomeric gene positive cases, such a correlation can only be proven through long term follow up studies. Hypertrophic Cardiomyopathy (HCM) is a disease characterized by genetic and phenotypic heterogeneity. Renin–angiotensin–aldosteron be system (RAAS) is a potential disease modifier. The aim of the present case control study is evaluation of the controversial role of ACE I/D polymorphism in HCM among Egyptians. Subjects and methods: The study comprised 211 unrelated HCM patients (138 sporadic, 73 familial) and 203 age and sex matched ECG screened healthy volunteers. ACE I/D polymorphism was determined using previously described PCR and gel electrophoresis based method. Results: Distribution of ACE genotype among the Egyptian controls was in Hardy-Weinberg equilibrium (P = 0.778) but not in HCM patients (P = 0.0010). The ACE DD genotype was significantly higher among HCM patients (P = 0.049), particularly in sporadic HCM group compared with familial cases (P = 0.0001). In addition, the distribution of D allele was significantly higher in HCM patients carrying sarcomeric mutations in TNNT2 and MYH7, (P = 0.0476). There was no observed significant effect of the ACE genotypes on the phenotypic expression of the disease. Conclusion: The finding of higher frequency of DD genotype among HCM patients compared to healthy volunteers, particularly so, in sporadic cases suggests that HCM expression is possibly influenced by a genetically predisposed milieu partially determined by the ACE I/D variants. Despite the lack of significant correlation between I/D variants and clinicopathologic characteristics of the HCM patients, however, the higher prevalence of D allele among TNNT2 and MYH7 mutation carriers may contribute to the variable disease outcome among sarcomeric gene positive cases, such a correlation can only be proven through long term follow up studies. |
| Author | Moharem, Sarah Algendy, Sherif A. Elguindy, Ahmed Ayad, Maha S. Yacoub, Magdi H. Kassem, Heba Sh Magdy, Gehan Azer, Remon S. |
| Author_xml | – sequence: 1 givenname: Heba Sh surname: Kassem fullname: Kassem, Heba Sh organization: BA HCM National Program Bibliotheca Alexandrina and Magdi Yacoub Heart Foundation, Aswan Heart Center, Egypt – sequence: 2 givenname: Sherif A. surname: Algendy fullname: Algendy, Sherif A. organization: BA HCM National Program Bibliotheca Alexandrina and Magdi Yacoub Heart Foundation, Aswan Heart Center, Egypt – sequence: 3 givenname: Remon S. surname: Azer fullname: Azer, Remon S. organization: BA HCM National Program Bibliotheca Alexandrina and Magdi Yacoub Heart Foundation, Aswan Heart Center, Egypt – sequence: 4 givenname: Sarah surname: Moharem fullname: Moharem, Sarah organization: BA HCM National Program Bibliotheca Alexandrina and Magdi Yacoub Heart Foundation, Aswan Heart Center, Egypt – sequence: 5 givenname: Maha S. surname: Ayad fullname: Ayad, Maha S. organization: BA HCM National Program Bibliotheca Alexandrina and Magdi Yacoub Heart Foundation, Aswan Heart Center, Egypt – sequence: 6 givenname: Gehan surname: Magdy fullname: Magdy, Gehan organization: BA HCM National Program Bibliotheca Alexandrina and Magdi Yacoub Heart Foundation, Aswan Heart Center, Egypt – sequence: 7 givenname: Ahmed surname: Elguindy fullname: Elguindy, Ahmed organization: BA HCM National Program Bibliotheca Alexandrina and Magdi Yacoub Heart Foundation, Aswan Heart Center, Egypt – sequence: 8 givenname: Magdi H. surname: Yacoub fullname: Yacoub, Magdi H. organization: BA HCM National Program Bibliotheca Alexandrina and Magdi Yacoub Heart Foundation, Aswan Heart Center, Egypt |
| BookMark | eNp9UU1r3DAQFSWFbtP8gN70B-xoJPlD7WkJaRoI5NJCb0IrjXdlbMlIbsClP77abukxOkjDm3lv9HjvyVWIAQn5CKwGBu3tWONprDkDUQOvGZNvyI4zxSoF8OOK7ACAVbxl_Ttyk_PIyml5J5jckd_7cPRxxZB9qGwML5hWH44Uw69tRupDPgMx3Dqc8FzQJU7bHNNy8nkufXraljKSYgEstSY5H-ctLmY9bZ_oPtD747as3oTSy0jLijI70bz-dNsH8nYwU8abf-81-f7l_tvd1-rp-eHxbv9UWc6ErAbTgWocHpx0rlflbodWuEYNB2DcAZjGcMFE2zgrDT80HPoWu14cGtUDc-KaPF50XTSjXpKfTdp0NF7_BWI6alNc2gk16xBASgGDlLJT1ijnTIPWiK5XqmuKFly0bIo5Jxz-6wHT5zT0qEsa-pyGBq5LGoXz-cLBYvLFY9LZegwWnU9o1_IL_wr7DzGxlxA |
| ContentType | Journal Article |
| Copyright | 2013 |
| Copyright_xml | – notice: 2013 |
| DBID | 6I. AAFTH AAYXX CITATION DOA |
| DOI | 10.1016/j.ehj.2013.12.004 |
| DatabaseName | ScienceDirect Open Access Titles Elsevier:ScienceDirect:Open Access CrossRef DOAJ Directory of Open Access Journals |
| DatabaseTitle | CrossRef |
| DatabaseTitleList | |
| Database_xml | – sequence: 1 dbid: DOA name: DOAJ Directory of Open Access Journals url: https://www.doaj.org/ sourceTypes: Open Website |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine |
| EISSN | 2090-911X |
| EndPage | 2 |
| ExternalDocumentID | oai_doaj_org_article_07e114431f44479ca9dda5eca3789975 10_1016_j_ehj_2013_12_004 S1110260813001233 |
| GroupedDBID | --- --K 0R~ 0SF 4.4 457 5VS 6I. 7X7 8FI 8FJ AACTN AAEDT AAEDW AAFTH AAFWJ AAIKJ AAKKN AALRI AAXUO AAYZJ ABMAC ABUWG ACACY ACGFS ADBBV ADEZE AEXQZ AFGXO AFKRA AFNRJ AFPKN AFWDF AGHFR AHBXF AITUG ALMA_UNASSIGNED_HOLDINGS AMRAJ AMTXH AOIJS BAPOH BAWUL BCNDV BENPR C24 C6C CCPQU EBS EJD FDB FYUFA GROUPED_DOAJ HMCUK HYE HZ~ IAO IHR INH IPNFZ IXB KQ8 M41 NCXOZ O-L O9- OK1 PIMPY RIG ROL RPM RSV SEL SOJ SSZ UKHRP XH2 AAYWO AAYXX ABEEZ ACULB ACVFH ADCNI ADVLN AEUPX AFFHD AFPUW AIGII AKBMS AKRWK AKYEP CITATION H13 ITC PGMZT PHGZM PHGZT |
| ID | FETCH-LOGICAL-c2034-fa7195debd4dd89d4d6f63d59fb102d11a5a230365dc4a2b52186e783b59810d3 |
| IEDL.DBID | DOA |
| ISSN | 1110-2608 |
| IngestDate | Fri Oct 03 12:39:07 EDT 2025 Sat Nov 29 06:41:44 EST 2025 Fri Feb 23 02:30:08 EST 2024 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 1 |
| Keywords | Angiotensin-converting enzyme Insertion/Deletion polymorphism Hypertrophic cardiomyopathy Egypt |
| Language | English |
| License | http://creativecommons.org/licenses/by-nc-nd/3.0 https://www.elsevier.com/tdm/userlicense/1.0 |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c2034-fa7195debd4dd89d4d6f63d59fb102d11a5a230365dc4a2b52186e783b59810d3 |
| OpenAccessLink | https://doaj.org/article/07e114431f44479ca9dda5eca3789975 |
| PageCount | 2 |
| ParticipantIDs | doaj_primary_oai_doaj_org_article_07e114431f44479ca9dda5eca3789975 crossref_primary_10_1016_j_ehj_2013_12_004 elsevier_sciencedirect_doi_10_1016_j_ehj_2013_12_004 |
| PublicationCentury | 2000 |
| PublicationDate | March 2014 2014-03-00 2014-03-01 |
| PublicationDateYYYYMMDD | 2014-03-01 |
| PublicationDate_xml | – month: 03 year: 2014 text: March 2014 |
| PublicationDecade | 2010 |
| PublicationTitle | The Egyptian heart journal |
| PublicationYear | 2014 |
| Publisher | Elsevier B.V SpringerOpen |
| Publisher_xml | – name: Elsevier B.V – name: SpringerOpen |
| SSID | ssj0000627304 |
| Score | 1.8739451 |
| Snippet | Hypertrophic Cardiomyopathy (HCM) is a disease characterized by genetic and phenotypic heterogeneity. Renin–angiotensin–aldosteron be system (RAAS) is a... |
| SourceID | doaj crossref elsevier |
| SourceType | Open Website Index Database Publisher |
| StartPage | 1 |
| SubjectTerms | Angiotensin-converting enzyme Insertion/Deletion polymorphism Egypt Hypertrophic cardiomyopathy |
| Title | Angiotensin-converting enzyme insertion/deletion polymorphism in hypertrophic cardiomyopathy: An Egyptian case control study |
| URI | https://dx.doi.org/10.1016/j.ehj.2013.12.004 https://doaj.org/article/07e114431f44479ca9dda5eca3789975 |
| Volume | 66 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| journalDatabaseRights | – providerCode: PRVAON databaseName: DOAJ Directory of Open Access Journals customDbUrl: eissn: 2090-911X dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0000627304 issn: 1110-2608 databaseCode: DOA dateStart: 20110101 isFulltext: true titleUrlDefault: https://www.doaj.org/ providerName: Directory of Open Access Journals |
| link | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwrV3Pa9swFBajlNHLaLeWpj-GDjsNRG1LtqTe0tKwy8oOG_QmZOk5cWjskqSFlP7xfZLtkkvpZRdjJCOZz89-n6yP9xHyA4AXWlpgvKgUE047ViKLZSkXCSSuKC2IaDYhb2_V3Z3-s2X1FTRhXXngDriLRAJSdkxzlRBCame19zYHZ7nEpYKM1UsTqbcWU903GNNy9A7EdzlhSNrVsKUZxV0wmwdZF4-_AnuTtiEpxdr9W7lpK99M9smXnijScXeDB-QTNF_J59_9Vvg38jJupnUb9ecNi9rxUA9gSqF53iyA1k3YZkfQL4LTTTihD-09LvQR13q1wH46wyXocr1sscFRF3Wpi00bLIo3l3Tc0JvgUIbRg30roL2mncZ6tIfk3-Tm7_Uv1lspMJclXLDKylTnHkovvFcaj0VVcJ_rqkSG4dPU5jYL2Sz3TtiszINVFUjFy1yrNPH8iOw0bQPHhEpfJC4rKyVyEB4K66ESSDrAKq9Sm47IzwFL89BVzDCDlGxuEHgTgDdpZhD4EbkKaL9dGIpdxwYMAdOHgPkoBEZEDM_K9Lyh4wM4VP3-3Cf_Y-5TsodDik6VdkZ21stHOCe77mldr5bfY1C-AsLX5z0 |
| linkProvider | Directory of Open Access Journals |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Angiotensin-converting+enzyme+insertion%2Fdeletion+polymorphism+in+hypertrophic+cardiomyopathy%3A+An+Egyptian+case+control+study&rft.jtitle=The+Egyptian+heart+journal&rft.au=Kassem%2C+Heba+Sh&rft.au=Algendy%2C+Sherif+A.&rft.au=Azer%2C+Remon+S.&rft.au=Moharem%2C+Sarah&rft.date=2014-03-01&rft.pub=Elsevier+B.V&rft.issn=1110-2608&rft.eissn=2090-911X&rft.volume=66&rft.issue=1&rft.spage=1&rft.epage=2&rft_id=info:doi/10.1016%2Fj.ehj.2013.12.004&rft.externalDocID=S1110260813001233 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1110-2608&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1110-2608&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1110-2608&client=summon |