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<PublisherName>revista-medicina-scolara</PublisherName>
<JournalTitle>The Journal of School and University Medicine</JournalTitle>
<PISSN/>
<EISSN/>
<Volume-Issue>Volume 9, Issue 2</Volume-Issue>
<PartNumber/>
<IssueTopic>Multidisciplinary</IssueTopic>
<IssueLanguage>English</IssueLanguage>
<Season>April-June 2022</Season>
<SpecialIssue>N</SpecialIssue>
<SupplementaryIssue>N</SupplementaryIssue>
<IssueOA>Y</IssueOA>
<PubDate>
<Year>-0001</Year>
<Month>11</Month>
<Day>30</Day>
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<ArticleType>Medical</ArticleType>
<ArticleTitle>GENETIC ASPECTS IN TYPE 1 DIABETES MELLITUS</ArticleTitle>
<SubTitle/>
<ArticleLanguage>English</ArticleLanguage>
<ArticleOA>Y</ArticleOA>
<FirstPage>28</FirstPage>
<LastPage>33</LastPage>
<AuthorList>
<Author>
<FirstName>Zara</FirstName>
<LastName>Radu</LastName>
<AuthorLanguage>English</AuthorLanguage>
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<CorrespondingAuthor>N</CorrespondingAuthor>
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<DOI>10.51546/JSUM.2022.9204</DOI>
<Abstract>Diabetul zaharat (DZ) de tip 1 este considerat la ora actuala ca o afectiune autoimuna cu etiologie multifactoriala, produs de o interactiune complexa a mai multor factori genetici, epigenetici si de mediu, a caror consecinta este distructia progresiva a celulelor beta-pancreatice (cele care sintetizeaza insulina) si __ampersandsignicirc;n final, deficitul absolut de insulina endogena. Aproximativ 5-10% din toti pacientii cu diabet au diabet zaharat de tip 1. DZ de tip 1 este mediat imun __ampersandsignicirc;n peste 90% din cazuri si poate aparea la orice grupa de v__ampersandsignacirc;rsta, dar este cel mai frecvent la copii si adulti tineri, de asemenea are un grad ridicat de concordanta ridicata __ampersandsignicirc;n r__ampersandsignacirc;ndul gemenilor monozigoti (33 p__ampersandsignacirc;na la 42%) si se manifesta puternic __ampersandsignicirc;n familii (15% din cazurile de DZ prezinta agregare familiala) cu risc mare pentru rudele de gr I (6-7% familie vs 0,4% populatia generala) cu o amprenta parentala (7-8% tata-copil vs 2-4% mama-copil), riscul __ampersandsignicirc;ntre frati fiind de aproximativ 10 ori mai mare dec__ampersandsignacirc;t riscul __ampersandsignicirc;n populatia generala. Studiile geneticii DZ de tip 1 au dezvaluit contributia cheie a regiunii antigenului leucocitar uman (HLA) la susceptibilitatea DZ de tip 1, abordarile de familie si studiul genelor candidate au descoperit __ampersandsignicirc;nca cinci loci asociati cu DZ de tip 1, iar studiile de asociere la nivelul genomului (GWAS) a crescut numarul de loci la peste 60. Identificarea si studiul actiunii genelor de susceptibilitate pentru DZ de tip 1 ar putea sa puna __ampersandsignicirc;n evidenta depistarea precoce a prediabetului si formelor necomplicate dar si elaborarea unor noi tinte si strategii terapeutice si elaborarea unui plan de tratament personalizat.</Abstract>
<AbstractLanguage>English</AbstractLanguage>
<Keywords>type 1 diabetes mellitus, genes, risk, genetic susceptibility</Keywords>
<URLs>
<Abstract>https://revista-medicina-scolara.ro/ubijournal-v1copy/journals/abstract.php?article_id=13898&title=GENETIC ASPECTS IN TYPE 1 DIABETES MELLITUS</Abstract>
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<References>
<ReferencesarticleTitle>References</ReferencesarticleTitle>
<ReferencesfirstPage>16</ReferencesfirstPage>
<ReferenceslastPage>19</ReferenceslastPage>
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