Yazar "Sozen, Mustafa Mert" seçeneğine göre listele

Listeleniyor 1 - 3 / 3
  • Küçük Resim Yok
    Öğe
    Association of a haplotype in the NRG1 gene with schizophrenia: a case-control study
    (Walter De Gruyter Gmbh, 2023) Sozen, Mustafa Mert; Kartalci, Sukru
    Objectives: Schizophrenia (SZ) is a severe multifactorial disease. NRG1 is a gene acting in the development of SZ. A number of NRG1 single nucleotide polymorphisms (SNPs) and their haplotypes are associated with SZ. In the present study, we investigated the association of a NRG1 haplotype (G-C in rs6988339-rs3757930 frame) which was reported to be associated with SZ, and two other SNPs in the same gene (rs74942016, rs80127039) whose rare missense alleles were found in SZ patients. Also, we analyzed disease associations of potential new haplotypes constructed by the variants of these SNPs.Methods: We genotyped 4 SNPs in a sample consisting of 302 SZ patients and 333 controls from a local Turkish population. We tested the disease associations of these variants at single SNP, haplotype and diplotype levels in case-control design.Results: At single SNP level, the CC genotype of rs3757930 was associated with SZ (p=0.038). The previously reported association of G-C haplotype in rs6988339-rs3757930 frame was absent (p=0.416), but we found another haplotype (C-G in rs3757930-rs74942016, p=0.018) and three diplotypes (A-C/G-C diplotype of rs6988339-rs3757930 frame, C-G/C-G diplotype of rs3757930-rs74942016 frame, and A-C-G/G-C-G diplotype of rs6988339-rs3757930-rs74942016 frame) associated with schizophrenia in our sample.Conclusions: Our study indicated the associations of a SNP, a haplotype, and a diplotype of NRG1 with schizophrenia and supported the involvement of NRG1 gene in the development of the disease. Since our sample was collected from a limited geographic area, the associations we have reported need to be supported by further studies in different populations.
  • Küçük Resim
    Öğe
    Presence of a genetic association between NRG-3 SNP rs17101193 and schizophrenia
    (2020) Acar, Ceren; Sozen, Mustafa Mert; Kartalci, Sukru
    Aim: NRG-3 gene is a member of neuregulin signaling pathway and alleles of several single nucleotide polymorphisms (SNP) located in this gene are suspected to be associated with schizophrenia. During this work, we have done a study to investigate the potential association of the SNP rs17101193 of NRG-3 gene.Material and Methods: We used the DNA samples from 301 unrelated schizophrenia patients and 326 healthy control samples collected from Malatya-Turkey to determine the SNP genotypes. After genotyping, we compared the genotypes and alleles in terms of distributions between cases and controls. We also applied the recessive models for both alleles to get a more clarified result. We used Chi-Squared test and Fisher’s exact test for hypothesis testing.Results: Even though the difference between the case and control groups were not significant in context of distributions of two alleles of rs17101193, the distributions of genotypes were significantly different (p = 0.046). On the other hand, one of the genotypes (AA) was seen only in the patients. Conclusion: The results of our analyses and statistical test indicated that rs17101193 SNP of NRG-3 gene has a potential to be associated with schizophrenia and homozygosity of “A” allele seems to be a risk factor in our population. More evidence from separate case-control studies from different populations may be required to strengthen this idea.
  • Küçük Resim Yok
    Öğe
    Screening of three ERBB4 gene polymorphisms in a group of Turkish schizophrenia patients and controls
    (Walter De Gruyter Gmbh, 2015) Sozen, Mustafa Mert; Kartalci, Sukru
    Objective: The human ERBB4 gene (v-erb-a erithroblastic leukemia viral oncogene homology 4) codes for the ErbB4 receptor protein. One of the ligands of ErbB4 receptor is Neuregulin-1 and it is coded by NRG1 gene which is reported to be a susceptibility gene for schizophrenia. Since ErbB4 receptor is activated by binding of Neuregulin-1, ERBB4 gene is thought to be involved in development of schizophrenia (SZ) as well. Even though several association, expression and animal studies supported this idea and resulted with association between the disease and several single nucleotide polymorphisms (SNP) in the ERBB4 gene, independent studies done in different populations did not replicate that result. In the present study we aimed to get clues about involvement of three ERBB4 SNPs -which were found to be associated with schizophrenia in some other populations- in development of schizophrenia in a group of Turkish patients. Methods: We screened 3 SNPs (rs707284, rs7598440 and rs839523) in a group of Turkish schizophrenia patients and a matched control group from Malatya-Turkey to test the presence of such an association. For SNP genotyping, we used a real-time PCR based method and we evaluated the results with chi-square test. We have analyzed the haplotypes constituted by those three SNPs for multiple locus associations as well as analyzing each for single SNP associations. Results: After SNP genotyping and statistical tests comparing our case and control groups for allele, genotype and haplotype distributions, there was no significant difference between those two groups for three SNPs we screened. Conclusion: We were not able to find a significant evidence for presence of an association between three SNPs located in the ERBB4 gene and schizophrenia in our patients.