title: Novel non-synonymous polymorphisms in the COX-1 gene in Turkish pediatric patients with cardiovascular anomalies.
abstract: Variation 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.
authors.affiliation: Department of Cardiovascular Surgery, Baskent University, Faculty of Medicine, Adana, Turkey icoskun1974@gmail.com.
authors.forename: I
authors.initials: I
authors.lastname: Coskun
authors.affiliation: Department of Cardiology, Baskent University, Faculty of Medicine, Adana, Turkey.
authors.forename: Y
authors.initials: Y
authors.lastname: Colkesen
authors.affiliation: Department of Cardiovascular Surgery, Ege University, Faculty of Medicine, Izmir, Turkey.
authors.forename: F
authors.initials: F
authors.lastname: Ayik
authors.affiliation: Molecular Medicine Laboratory, Department of Pediatrics, Ege University, Faculty of Medicine, Izmir, Turkey.
authors.forename: A
authors.initials: A
authors.lastname: Berdeli
authors.affiliation: Department of Cardiovascular Surgery, Ege University, Faculty of Medicine, Izmir, Turkey.
authors.forename: Y
authors.initials: Y
authors.lastname: Atay
mesh_terms: D000293:Adolescent; D002318:Cardiovascular Diseases / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D051545:Cyclooxygenase 1 / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D011110:Polymorphism, Genetic; D014421:Turkey
chemical_list: D051545:Cyclooxygenase 1; C496511:PTGS1 protein, human