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    An investigation of the effects of FGFR2 and B7-H4 polymorphisms in breast cancer
    (WOLTERS KLUWER MEDKNOW PUBLICATIONS, 2013-01-01) Ozgoz, Asuman; Samli, Hale; Ozturk, Kuyas Hekimler; Orhan, Bulent; Icduygu, Fadime Mutlu; Aktepe, Fatma; Imirzalioglu, Necat
    Introduction: Polymorphisms in FGFR2 are important markers for breast cancer susceptibility in the general population. CHEK2 and FGFR2 polymorphisms with known susceptibility alleles of BRCA1, BRCA2, PTEN, and TP53, can be investigated as potential modifiers of high penetrant risk alleles. Although the B7-H4 gene is highly expressed in many different tumors, there is one published study showing the association of polymorphisms with breast cancer. We aimed to investigate FGFR2 and B7-H4 polymorphisms in breast cancer in the Turkish community. Materials and Methods: In a group of 31 cases diagnosed with breast cancer and 30 healthy women with matched ages, the single-nucleotide polymorphisms (SNPs) rs1219648, rs2981582 in FGFR2 gene were identified by sequence analysis and the SNPs rs10754339, rs10801935, and rs3738414 in the B7-H4 gene were identified by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Statistical analysis was performed using SPSS. Results: Although statistically not significant, the frequency of FGFR2 heterozygous polymorphisms in the group with breast cancer was detected to be higher. In the B7-H4 SNP rs10801935, polymorphic AA, and AG genotype distributions were found in higher frequencies in the breast cancer patients. In contrast to the results of a published study, the present study shows that B7-H4 rs3738414 polymorphism GG genotype was found in higher frequency in the control group than the breast cancer group and the result was statistically significant (P=0.018). Conclusion: Larger scale studies are necessary to determine the prevalence of these polymorphisms and association with breast cancer in Turkish community, as this study is the first study performed.
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    Association between non-coding polymorphisms of HOPX gene and syncope in hypertrophic cardiomyopathy
    (TURKISH SOC CARDIOLOGY, 2014-01-01) Gulec, Cagri; Abaci, Neslihan; Bayrak, Fatih; Bayrak, Evrim Kourcu; Kahveci, Gokhan; Guven, Celal; Unaltuna, Nihan Erginel
    Objective: Homeodomain Only Protein X (HOPX) is an unusual homeodomain protein which regulates Serum Response Factor (SRF) dependent gene expression. Due to the regulatory role of HOPX on SRF activity and the regulatory role of SRF on cardiac hypertrophy, we aimed to investigate the relationship between HOPX gene variations and hypertrophic cardiomyopathy (HCM). Methods: In this study, designed as a case-control study, we analyzed coding and flanking non-coding regions of the HOPX gene through 67 patients with HCM and 31 healty subjects. Certain regions of the gene were investigated by Single Stranded Conformation Polymorphism (SSCP) and Restriction Fragment Length Polymorphism (RFLP). Statistical analyses of genotypes and their relationship with clinical parameters were performed by chi-square, Kruskal-Wallis and the Fisher's exact test. Results: In 5' Untranslated Region (UTR) and intronic region of the HOPX gene, we found a C>T substitution and an 8-bp insertion/deletion (In/Del) polymorphism, respectively. These two polymorphisms seemed to constitute an haplotype. While the frequency of homozygous genotypes of In/Del and C/T polymorphisms were found significantly lower in the patients with syncope (p=0.014 and p=0.017, respectively), frequency of their heterozygous genotypes were found significantly higher in the patients with syncope (p=0.048 and p=0.030, respectively). Conclusion: Though there was not found any mutation in coding sequence of HOPX gene, two non-coding polymorphisms were found related to syncope in HCM patients. While homozygous status of these polymorphisms was found to be protective against the syncope, their heterozygous status seemed to be a risk factor for syncope in HCM patients. Our results suggest that HOPX may contribute to pathogenesis or manifestation of HCM as a modifier gene.