Novel non-synonymous polymorphisms in the COX-1 gene in Turkish pediatric patients with cardiovascular anomalies

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dc.contributor.authorCoskun, I.
dc.contributor.authorColkesen, Y.
dc.contributor.authorAyik, F.
dc.contributor.authorBerdeli, A.
dc.contributor.authorAtay, Y.
dc.date.accessioned2019-10-27T22:06:04Z
dc.date.available2019-10-27T22:06:04Z
dc.date.issued2014
dc.departmentEge Üniversitesien_US
dc.description.abstractVariation in the gene encoding cyclooxygenase-1 (COX-1) is involved in the process of aspirin resistance. This study investigated the genetic variations in the COX-1 gene. The 4 coding regions of the human COX-1 gene in 90 pediatric patients (median age of 6.5 months, 55% males) with cardiovascular anomalies were screened using DNA sequencing. Twenty coding-region variants causing amino acid substitutions as well as 2 new non-synonymous polymorphisms were identified. All variants were compared with an independent Caucasian population (N = 24 unrelated individuals). Most of the discovered polymorphisms were rare, although some variants resulted in amino acid changes occurring at a frequency >5% (W8R, P17L, Q41Q, Q240Q, D189E, and P188P). In addition, 2 new non-synonymous polymorphisms (F200L and D189E) were identified. These findings demonstrated novel genetic variants of the human COX-1 gene. Future studies characterizing the functional impact of these variants are warranted.en_US
dc.identifier.doi10.4238/2014.January.17.10en_US
dc.identifier.endpage268en_US
dc.identifier.issn1676-5680
dc.identifier.issue1en_US
dc.identifier.pmid24535852en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage262en_US
dc.identifier.urihttps://doi.org/10.4238/2014.January.17.10
dc.identifier.urihttps://hdl.handle.net/11454/48694
dc.identifier.volume13en_US
dc.identifier.wosWOS:000331846400028en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherFunpec-Editoraen_US
dc.relation.ispartofGenetics and Molecular Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCOX-1en_US
dc.subjectGeneen_US
dc.subjectPolymorphismen_US
dc.titleNovel non-synonymous polymorphisms in the COX-1 gene in Turkish pediatric patients with cardiovascular anomaliesen_US
dc.typeArticleen_US

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