PubMed İndeksli Yayınlar Koleksiyonu
Permanent URI for this collectionhttps://hdl.handle.net/11727/4810
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Item Association of rs10757274 and rs2383206 Polymorphisms on 9p21 locus with Coronary Artery Disease in Turkish Population(2016) Yayla, Cagri; Okyay, Kaan; Yilmaz, Akin; Sahinarslan, Asife; Saglam, Atiye Seda Yar; Eyoil, Azmi; Bolayir, Hasan Ata; Sezenoz, Burak; Menevse, Sevda; Cengel, Atiye; 0000-0001-6134-8826; 27721851; AAK-7355-2020Background and Objectives: Genetic predisposition is an important risk factor for coronary artery disease (CAD). In this study, we aimed to evaluate the impact of rs10757274 and rs2383206 polymorphisms in chromosome 9p21 on presence and severity of CAD in a Turkish population. Subjects and Methods: A total of 646 patients who underwent coronary angiography were included in this study. Coronary vessel score and Gensini score were calculated to assess the angiographic severity of CAD. Alleles of AA, AG, and GG were determined for rs10757274 (polymorphism-1) and rs2383206 (polymorphism-2) polymorphisms located in chromosome 9p21 from the blood samples. Results: There was a significant difference between the alleles in polymorphism-1 in the presence of coronary artery disease (38.9% in AA, 48.0% in GG and 56.4% in AG, p=0.017). However, there was no difference between the alleles in polymorphism-2. According to vessel scores, there was a significant difference between the alleles in polymorphism-1 (AA 0.71 +/- 1.04, GG 0.88 +/- 1.07, AG 1.06 +/- 1.12, p=0.018). In polymorphism-2, vessel scores did not show a difference between the alleles. In polymorphism-1, there was a significant difference in Gensini score (p=0.041). Gensini scores did not differ between the alleles in polymorphism-2 (p>0.05 for all). In multivariate analyses, none of the alleles was an independent factor for presence of CAD. Conclusion: The presence of rs10757274 polymorphism including AG allele in chromosome 9p21 was related to CAD. However, this relationship was not independent of other cardiovascular risk factors.Item Investigation of SOSTDC1 gene in non-syndromic patients with supernumerary teeth(2018) Ozgul, Betul-Memis; Arikan, Volkan; Cumaoglullari, Ozge; Oz, Firdevs-Tulga; 30148467Background: The etiology of supernumerary teeth is still unclear however heredity is believed to be a major factor and this idea was supported by several case reports. Recently, a relationship between supernumerary tooth formation and deficiency of Uterine Sensitization Associated Gene-1 (Usag-1), a rat gene that is expressed in sensitized endometrium, was reported in mice. The human homolog gene for Usag-1, Sclerostin Domain Containing 1 (SOSTDC1), shows 85% identity with mouse Usag-1. The present study aimed to investigate SOSTDC1 coding regions in non-syndromic patients with one or more supernumerary teeth. Material and Methods: Twenty-five non-syndromic patients (21 male and 4 female) aged 5-15 years, with one or more supernumerary teeth were included in the study. Saliva samples were collected from patients and DNA samples were isolated and analyzed using PCR. Results: Eight phenotypes of supernumerary tooth formation were observed in the study. From the DNA analysis, 2 novel and 3 previously identified sequence alterations were identified however, in investigating the Usag-1 homolog SOSTDC1 gene, the present study could not find any phenotype-genotype relationship. Conclusions: There are many SOSTDC1 homolog genes in the human genome and future studies should investigate these candidate genes. Also studies in larger case groups including family members may reveal the hereditary pattern.