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    Investigation of effects of PALB2 genetic variations on breast cancer predisposition
    (CUKUROVA UNIV, FAC MEDICINE, 2020-01-01) Bilen, Muge Yuksel; Berkoz, Mehmet; Yalin, Ali Erdinc; Calikusu, Zuleyha; Eroglu, Pelin; Comelekoglu, Ulku; Yalin, Serap
    Purpose: In this study, the effects of three different single nucleotide polymorphisms (rs249954, rs249935, and rs16940342) of partner and localizer of breast cancer gene 2 (PALB2) on breast cancer predisposition have been investigated. Materials and Methods: For this purpose, 150 patients diagnosed to have breast cancer and 150 healthy individuals have been included. By using real time polymerase chain reaction (PCR) method isolated deoxyribonucleic acid (DNA) from each case has been investigated for the PALB2 genetic variations. Results: The distribution of homozygote wild type (AA) and heterozygote (AG) genotypes at rs16940342 polymorphism has been observed to be 44.7\% and 55.3\% in breast cancer group and 32.7\% and 67.3\% in control group. The homozygote polymorphic (GG) genotype was not observed in both groups. The discrepancy between the groups in terms of genotype distribution regarding rs16940342 polymorphism has been found statistically significant. However, there was no significant difference in the frequencies of rs249954 and rs249935 polymorphisms comparing both groups. Conclusion: These results show that rs16940342 polymorphism may be an important determinant in terms of breast cancer predisposition in the Turkish population.
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    The Evaluation of Endothelin-1 and Endothelin Receptor Type A Gene Polymorphisms in Patients with Vitiligo
    (WOLTERS KLUWER MEDKNOW PUBLICATIONS, 2016-01-01) Bingul, Ilknur; Aydingoz, Ikbal Esen; Vural, Pervin; Dogru-Abbasoglu, Semra; Uysal, Mujdat
    Background: Endothelin-1 (EDNi) and EDN receptor type A (EDNRA) are implicated in melanocyte functions. Aim and Objectives: This study examines the role of EDN1 (G5665T and T-1370G) and EDNRA (C + 70G and G-231A) polymorphisms as a risk factor for vitiligo, and evaluates the relationship between genotypes and clinical characteristics of vitiligo patients. Materials and Methods: We analyzed genotype/alele distributions of EDN1 and EDNRA polymorphisms in 100 patients with vitiligo and 185 healthy controls by real-time polymerase chain reaction. Results: There was no notable risk for vitiligo afflicted by studied polymorphisms. However, the presence of EDNRA + 70 variant G allele was found to be related with decreased risk for development of generalized type of vitiligo (odds ratio {[}OR]: 0.42, 95\% confidence interval {[}CI] = 0.21-0.86, Por = 0.03) and showed protective effect against associated diseases seen in vitiligo (OR: 0.49, 95\% CI = 0.27-0.88, p(corr) = 0.034). Haplotype analysis demonstrated a strong (disequilibrium coefficient = 0.73, r(2) = 0.405) linkage disequilibrium between EDN1 G5665T and T-1370G polymorphisms. The EDN1 5665/-1330 TT haplotype was over represented significantly in controls than in patients (P = 0.04). Conclusion: The studied polymorphisms do not seem to be a major risk for vitiligo. Haplotype analysis denoting protective effects against vitiligo may indicate an indirect interaction in the course of vitiligo. In addition, EDNRA + 70 polymorphism is protective against generalized type of vitiligo and associated diseases.