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    MMP3 (Rs679620) ve VDR (Rs731236) gen polimorfizmlerinin, periodontal olarak sağlikli erkek bireylerde, diş çürük lezyonu oluşumundaki etkisinin değerlendirilmesi: pilot çalışma
    (2023-01-11) ÖZMEN, SEDA; YILMAZ ATALI, PINAR; AĞRALI, ÖMER BİRKAN; TACAL ASLAN, BESTE; ULUCAN, KORKUT; Özmen S., Yılmaz Atalı P., Ağralı Ö. B., Tacal Aslan B., Yılmaz Ö. Ö., Polat T., Ulucan K.
    Amaç:Çürük oluşumu pek çok faktörün etkilediği bir süreçtir. Yapılan çalışmalar genetik faktörlerin de çürük oluşumunda rol oynadığını göstermiştir. Çalışmamızda, östrojen hormon mekanizması ve mensturasyon döngüsünün gen ekspresyon sürecini değiştirmesi sebebiyle, erkek bireylerde diş mineralizasyon sürecinde rol oynayanMMP3veVDRgenlerinde oluşan polimorfizmlerin çürük oluşumuna olan etkisinin incelenmesi amaçlanmıştır.Gereç ve Yöntem:Fakülte hastanesine başvuran 20-44 yaş aralığındaki erkek bireylerde rutin ağız içi muayenesi sonrasında; çürük, eksik ve restorasyonlu dişler (DMFT) indeksine göre tanı konulmuştur. Deney grubunu, ‘yüksek çürük risk’ (DMFT ≥ 14, n=28); kontrol grubunun ise ‘çürük lezyonu bulunmayan’ (DMFT=0, n=28) kişiler oluşturmuştur. Detaylı anamnez alınan katılımcılardan plak indeksi, sondalamada kanama ölçümü yapılmıştır.Katılımcılardan alınan kan örneklerinden DNA izolasyonları sonrasında,MMP3(rs679620)veVDR(rs731236)genotiplemesi Real-time PZR tekniği kullanılarak belirlenmiştir.Elde edilen sonuçlar istatistiksel yöntemler kullanılarakanlamlılık düzeyi p<0,05’te değerlendirilmiştir.Bulgular:Çalışmamıza katılan bireylerde sondalamada kanama derecesi %10’un altında ve DMFT=0 olan düşük risk grubundaki (kontrol) ve de sondalamada kanama derecesi %10’un altında olan yüksek risk grubundaki bireylerin (deney)MMP3veVDRpolimorfizmleri açısından kıyaslaması yapılmış ve gruplara göreMMP3dağılımları arasında istatistiksel olarak anlamlı farlılık bulunmuştur (p<0,001). Gruplara göre VDR dağılımları arasında istatistiksel olarak anlamlı farklılık bulunmamıştır (p=0,659)Sonuç:Çalışmamızın sınırları dahilinde MMP3(rs679620) gen polimorfizminin çürük oluşum üzerinde etkili;VDR(rs731236) polimorfizminin ise etkisiz olduğu sonucuna ulaşılmıştır. Katılımcı sayısının arttırılarak ileri çalışmaların yapılması gerektiği düşünülmektedir.Anahtar Kelimeler:Çürük risk değerlendirmesi, gen-çevre etkileşimi, MMP3, polimorfizm, VDR.
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    PublicationOpen Access
    Exome-wide association study of competitive performance in elite athletes
    (2023-03-01) ULUCAN, KORKUT; Bulgay C., Kasakolu A., Kazan H. H., Mijaica R., ZORBA E., Akman O., Bayraktar I., Ekmekci R., KONCAGÜL S., ULUCAN K., et al.
    The aim of the study was to identify genetic variants associated with personal best scores in Turkish track and field athletes and to compare allelic frequencies between sprint/power and endurance athletes and controls using a whole-exome sequencing (WES) approach, followed by replication studies in independent cohorts. The discovery phase involved 60 elite Turkish athletes (31 sprint/power and 29 endurance) and 20 ethnically matched controls. The replication phase involved 1132 individuals (115 elite Russian sprinters, 373 elite Russian endurance athletes (of which 75 athletes were with VO2max measurements), 209 controls, 148 Russian and 287 Finnish individuals with muscle fiber composition and cross-sectional area (CSA) data). None of the single nucleotide polymorphisms (SNPs) reached an exome-wide significance level (p < 2.3 × 10−7) in genotype–phenotype and case–control studies of Turkish athletes. However, of the 53 nominally (p < 0.05) associated SNPs, four functional variants were replicated. The SIRT1 rs41299232 G allele was significantly over-represented in Turkish (p = 0.047) and Russian (p = 0.018) endurance athletes compared to sprint/power athletes and was associated with increased VO2max (p = 0.037) and a greater proportion of slow-twitch muscle fibers (p = 0.035). The NUP210 rs2280084 A allele was significantly over-represented in Turkish (p = 0.044) and Russian (p = 0.012) endurance athletes compared to sprint/power athletes. The TRPM2 rs1785440 G allele was significantly over-represented in Turkish endurance athletes compared to sprint/power athletes (p = 0.034) and was associated with increased VO2max (p = 0.008). The AGRN rs4074992 C allele was significantly over-represented in Turkish sprint/power athletes compared to endurance athletes (p = 0.037) and was associated with a greater CSA of fast-twitch muscle fibers (p = 0.024). In conclusion, we present the first WES study of athletes showing that this approach can be used to identify novel genetic markers associated with exercise- and sport-related phenotypes.
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    Mmp3 (rs679620) ve vdr (rs731236) genleri̇nde oluşan poli̇morfi̇zmleri̇n gen-çevre etki̇leşimleri̇ İle çürük ri̇sk değerlendi̇rmesi̇ üzeri̇ne olan etki̇leri
    (2022-10-19) YILMAZ ATALI, PINAR; AĞRALI, ÖMER BİRKAN; TACAL ASLAN, BESTE; AKSU, MEHMET BURAK; ULUCAN, KORKUT; ÖZMEN, SEDA; Özmen S., Yılmaz Atalı P., Ağralı Ö. B. , Tacal Aslan B., Aksu M. B. , Ulucan K.
    MMP3(rs679620) VEVDR(rs731236) GENLERİNDE OLUŞANPOLİMORFİZMLERİN GEN-ÇEVRE ETKİLEŞİMLERİ İLE ÇÜRÜK RİSK DEĞERLENDİRMESİ ÜZERİNE OLAN ETKİLERİSeda Özmen,Pınar Yılmaz Atalı, Ömer Birkan Ağralı, Becte Tacal Aslan, Özlem Özge Yılmaz,Tolga Polat, Mehmet Burak Aksu, Korkut UlucanAmaç:Günümüzde yapılan çürük risk modellerinde çoklu değişkenler eklenmiş ve özellikle gen-çevre etkileşimi incelenmiştir. Çalışmamızın amacı;VDRveMMP3genlerinde meydana gelen gen polimorfizmlerin etkilerinin değerlendirilip çürük risk modellemesi üzerine olan etkilerinin incelenmesidir.Gereç ve Yöntem:Çalışma populasyonu, fakülte hastanesine başvuran 20-44 yaş aralığındaki erkek bireylerde rutin ağız içi muayenesi sonrasında çürük, eksik ve restorasyonlu dişler (DMFT) indeksine göre tanı konulan ‘yüksek çürük risk’(DMFT ≥ 14) ve düşük çürük risk’(DMFT£5) olarak 2 gruptan oluşturulmuştur (n=160). Detaylı anamnez alınan katılımcılardan plak indeksi, gingival indeks sondalamada kanama, sondalama derinliği, klinik ataşman seviyesi ve tükürük tamponlama kapasitesi, tükürük streptekok mutans (SM) ve laktobasil (LB) sayısı ölçülmüştür.Katılımcılardan alınan kan örneklerinden DNA izolasyonları sonrasında,MMP3(rs679620)veVDR(rs731236)genotiplemesi ise Real-time PZR tekniği kullanılarak belirlenmiştir.Elde edilen sonuçlar istatistiksel yöntemler kullanılarakanlamlılık düzeyi p<0,05’te değerlendirilmiştir.Bulgular:Gruplar arası plak indeksi, gingival indeks, sondalama derinliği, klinik ataşman seviyesi, sondalamada kanama, tükürük akış hızı, tükürük tamponlama kapasitesi ve tükürük SM ve LB sayısı faktörleri arasında anlamlı düzeyde fark bulunmuştur (p<0,001). Çevresel risk faktörlerinde sosyoekonomik durum, diş fırçalama sıklığı, koruyucu diş tedavisine yönelik uygulama durumları açısından gruplar arasında anlamlı düzeyde fark tespit edilmiştir (p<0,001).MMP3rs679620 polimorfizminin de çürük risk belirlemesinde etkili olduğu (p<0,001);VDRpolimorfizminin ise etkili olmadığı (p=0,862) tespit edilmiştir.DMFT’ ye etki eden değişkenlerin incelenmesinde Adımsal Regresyon Analizi yapılarak model 7 adımda incelenmiştir ve modeller istatistiksel olarak anlamlı bulunmuştur (p<0,001).Çevresel risk faktörü olarak plak indeksi, sondalamada kanama, şekerli ara öğün tüketim sıklığı, tükürük tamponlaması,MMP3rs679620 gen polimorfizminin içerenModel 5 DMFT’ nin %58’ini açıklamıştır.Sonuç:Çürük risk modelinde; plak indeksi, sondalamada kanama, şekerli ara öğün tüketim sıklığı, tükürük tamponlaması,MMP3rs679620 gen polimorfizminin çevresel risk faktörü olarak modelde yer alması, bireylerin risk gruplarının belirlenmesinde etkili olacaktır.Anahtar Kelimeler:Çürük risk değerlendirmesi, gen-çevre etkileşimi,MMP3, Polimorfizm, VDR.
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    PublicationOpen Access
    Investigation of the Relationship between Anxiety Disorder and Time Perception with DRD2 rs1800497 Polymorphism
    (2022-10-01) ULUCAN, KORKUT; TACAL ASLAN, BESTE; San H. O. , Tarlacı S., Ulucan K., Polat T., Yılmaz Ö. Ö. , Tacal Aslan B.
    We have many biological systems that regulate the perception of time, which is one of our most essential abilities that allows subjectively predicting, perceiving and understanding the duration of experiences, feelings and achievements. There are findings obtained from many studies aiming to illuminate the place and importance of time, which was the most critical reference point for human understanding of life in the past, for us mammals. According to these findings, it is observed that there is a similar mechanism that provides the perception of time in almost every living organism. Time perception is vital for the healthy functioning of cognitive activities, physiological needs and behavioral relations, and the bio-psycho-social order's systematicity. Among the studies conducted, the findings obtained in the studies related to the effect of psychiatric disorders on the perception of time are somewhat blurry compared to the others. The research for this study was based on six basic Polymorphisms known to affect time perception and internal clock mechanisms. These are as follows: SLC6A4 / 5-HTTLPR, 5HT2A / T102C, DRD2 / TAQ1A, SLC6A3 / 3UTR VNTR, COMT / VAL158MET, GABRB2 A/C, CLOCK. In our study, the relationship between the rs1800497 polymorphism, which is one of these seven polymorphisms that are effective in the functioning of the internal clock in the human brain, and the inventory used in the measurement of anxiety, was examined in 14 participants. Beck Anxiety Inventory (BAI) was used to measure anxiety, and PCR was used to detect genetic variants. When the findings were evaluated, no significant relationship was found between anxiety and DRD2 rs1800497 polymorphism.
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    PublicationOpen Access
    Association between mct1 gene polymorphism (rs1049434) with the athletic performance of elite track and field athletes
    (2023-03-01) ULUCAN, KORKUT; Bulğay C., Zorba E., Bayraktar I., Kazan H. H., Ulucan K., Ergün M. A.
    Abstract:Monocarboxylate transporter 1 (MCT1; SLC16A1) is a proton-dependent cotransporter/exchanger, located on the apical membrane of cells. MCT1 is able to transport several monocarboxylates including lactate, pyruvate and acetate, which makes this protein critical in terms of the athletic performances. The rs1049434 polymorphism in theMCT1gene was frequently associated with the performance of the athletes in different populations. The present study aims to decipher any possible association of the rs1049434 polymorphism with the personal best of elite track and field athletes. A total of sixty elite athletes (31 sprint/power and 29 endurance) and twenty control/sedentary with the ages of 18-35 voluntarily participated in the study. The International Association of Athletics Federations (IAAF) score scale was used to determine the performance levels of the personal best (PB) of the athletes. Whole exome sequencing (WES) was performed by the genomic DNA isolated from blood of the participants. Sport type, sex and PB were chosen as the parameters to compare within and between the groups by logistic regression models. The sex was not the criterion that was significantly different between or within the groups. Although PB scores were not significant within the sprint/power group, it was significant within the endurance group by the codominant (p=0.044), dominant (p=0.016) and over-dominant (p=0.048) models. The rs1049434 polymorphism in theMCT1gene may be linked to the PB of the endurance athletes. However, other genetic alterations should be regarded to conclude the effect of this polymorphism. The multi-factorial genetic background that could associate with the athletic performanceis still under investigation in our research group. Nevertheless, further studies with more participants are needed.
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    PublicationOpen Access
    Evaluation of the Association of VDR rs2228570 Polymorphism with Elite Track and Field Athletes’ Competitive Performance
    (2023-03-01) ULUCAN, KORKUT; Bulgay C., Bayraktar I., Kazan H. H., YILDIRIM D. S., ZORBA E., Akman O., ERGÜN M. A., CERİT M., ULUCAN K., EKEN Ö., et al.
    The present study aimed to examine the vitamin D receptor (VDR), rs2228570 polymorphism, and its effect on elite athletes’ performance. A total of 60 elite athletes (31 sprint/power and 29 endurance) and 20 control/ physically inactive, aged 18–35, voluntarily participated in the study. The International Association of Athletics Federations (IAAF) score scale was used to determine the performance levels of the athletes’ personal best (PB). Whole exome sequencing (WES) was performed by the genomic DNA isolated from the peripheral blood of the participants. Sports type, sex, and competitive performance were chosen as the parameters to compare within and between the groups by linear regression models. The results showed no statistically significant difference between the CC, TC, and TT genotypes within and between the groups (p > 0.05). Additionally, our results underlined that there were no statistically significant differences for the association of rs2228570 polymorphism with PBs within the groups of the (p > 0.05) athletes. The genetic profile in the selected gene was similar in elite endurance, sprint athletes, and in controls, suggesting that rs2228570 polymorphism does not determine competitive performance in the analyzed athlete cohort.
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    PublicationOpen Access
    In silico approach to the analysis of SNPs in the human APAF1 gene
    (2019-01-01) ULUCAN, KORKUT; Kaman T., Karasakal O. F. , Ozkan Oktay E., ULUCAN K., Konuk M.
    The apoptotic protease activating factor 1 (APAF1) gene encodes a cytoplasmic protein that initiates apoptosis and is a crucial factor in the mitochondria-dependent death pathway. APAF1 is implicated in many pathways such as apoptosis, neurodegenerative diseases, and cancer. The purpose of this study was to predict deleterious/damaging SNPs in the APAF1 gene via in silico analysis. To this end, APAF1 missense SNPs were obtained from the NCBI dbSNP database. In silico analysis of the missense SNPs was carried out by using publicly available online software tools. The stabilization and three-dimensional modeling of mutant proteins were also determined by using the I-Mutant 2.0 and Project HOPE webservers, respectively. In total, 772 missense SNPs were found in the APAF1 gene from the NCBI dbSNP database, 18 SNPs of which were demonstrated to be deleterious or damaging. Of those, 13 SNPs had a decreasing effect on protein stability, while the other 5 SNPs had an increasing effect. Based on the modeling results, some dissimilarities of mutant type amino acids from wild-type amino acids such as size, charge, and hydrophobicity were revealed. The SNPs predicted to be deleterious in this study might be used in the selection of target SNPs for genotyping in disease association studies. Therefore, we could suggest that the present study could pave the way for future experimental studies.
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    Investigation of the effect of anxiety disorder on time perception with zimbardo time perspective inventory
    (2022-03-01) ULUCAN, KORKUT; Ulucan K., Şan H. O., Tarlacı S., Polat T., Yılmaz Ö. Ö., Tacal Aslan B.
    Background:Linguists first coined the term anxiety in the 1600s to define a state of severe restlessness and worry. When we look at the Turkish dictionaries and printed sources, we see that the definition of anxiety is made simply as anxiety, fear, and worry. Anxiety; which we can describe as a mental and physical reaction, a defense strategy, against an event or fear. It will threaten the survival of the life; it is seen in two ways as situational anxiety and trait anxiety. Situational anxiety, as the name suggests, arises when faced with a threat or stress factor, while trait anxiety is an anxiety that occurs internally, independent of the event or situation.Aims and Objectives:For the continuity of one’s cognitive and behavioral abilities, not only anxiety but also the perception of time has a great place in the continuity of life. The findings that help us understand one’s time perspective are internal clock models and related mechanisms. This study aims to investigate the effect of anxiety on time perspective.Materials and Methods:To thisend, the Beck Anxiety Scale, the Zimbardo Time Perspective Inventory, and the demographic information form were used to collect data. Data were collected from a total of 168 participants, 44 females and 124 males.Results and Conclusion:When the findings are evaluated in general terms, there was a moderately negative relationship between anxiety and past positive perspective and a moderately positive relationship between past negative perspective. Based on this result, anxiety prevents a positive perception of the past; on the contrary, it can be said that it causes a negative perception of the past.
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    PublicationOpen Access
    Obesity is associated with IL-6 gene polymorphisms rs1800795 and rs1800796 but not SOCS3 rs4969170
    (2023-03-01) ULUCAN, KORKUT; Koc G., Doran T., Uygur M. M., Kirac D.
    Background: An imbalance of inflammatory factors can stimulate obesity by inducing chronic inflammation in adipose tissue. Interleukin-6 (IL-6) is a cytokine with both inflammatory and anti-inflammatory functions. Suppressor of cytokine signaling 3 (SOCS3) acts as an inhibitor for a number of cytokine signals. The IL-6 and SOCS3 genes are known to be involved in lipid and energy metabolism, although it is unclear how these genes relate to obesity. The aim of this study is to determine whether the obesity risk is associated with the IL-6 (rs1800795, rs1800796) and SOCS3 (rs4969170) gene polymorphisms. Methods and results: Based on their body mass index (BMI) scores, 185 people were determined, of whom 90 were from the control group and 95 were obese. Anthropometric measurements and biochemical parameters of the study subjects were documented during the examination. Genomic DNA isolation was performed from the blood samples of all participants. IL-6 (rs1800795, rs1800796) and SOCS3 (rs4969170) polymorphisms were detected by real-time quantitative polymerase chain reaction (qRT-PCR) from genomic DNA samples. The IL-6 rs1800795 and rs1800796 variants showed a significant difference between the control and obese groups (p = 0.027; p = 0.013). The SOCS3 rs4969170 variation did not substantially differ between the control and obese groups (p = 0.825). Conclusion: In our study, IL-6 rs1800795(G/C) and rs1800796(G/C) polymorphisms appeared to be a risk factor for obesity. The C allele was associated with the obesity phenotypes. However, the SOCS3 rs4969170 (A/G) polymorphism was not linked to an increased risk of obesity. IL-6 polymorphisms may be new targets for obesity treatment.
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    PublicationOpen Access
    Sprint and Anaerobic Power with the Soccer-Specific ACTN3 Gene: A Distintive Example
    (2024-03-01) TACAL ASLAN, BESTE; POLAT, TOLGA; YILMAZ, ÖZLEM ÖZGE; ULUCAN, KORKUT; Söyler M., Zileli R., Özkamçı H., Diker G., Sever M., Bayrakdaroglu S., Ön S., Can İ., Ulucan K., Tacal Aslan B., et al.
    The aim of this study is twofold: (1) to identify differences in certain anaerobic parameters (10m sprint, 30m sprint, anaerobic power, and Illinois agility tests) between professional and amateur soccer players, and (2) to determine whether there is a difference in theACTN3gene polymorphism between professional and amateur soccer players. Ultimately, the goal is to reveal which parameters contribute to the differentiation in these two aspects. A total of 133 volunteer soccer players, including 71 professionals and 62 amateurs, participated in the research. DNA extraction from buccal epithelial cells was performed using a commercial kit to determine the genetic background of the athletes, and Real-Time PCR was conducted for genotyping. Statistical analysis of the findings obtained from the test results was performed using the SPSS 23 (SPSS Inc., Chicago, IL, USA) package program. The homogeneity of variance of the data was assessed using the Levene Test, and normal distribution analyses were conducted using the Shapiro-Wilk Test. Chi-square and Mann-Whitney U tests were employed for parameter analysis. The significance level was set at p<0.05. Evaluation of the data in our study revealed no statistically significant difference inACTN3rs1815739 gene polymorphism between the groups (p>0.05). However, there is a statistically significant difference in anaerobic parameters (10m sprint, 30m sprint, and anaerobic power) except for the Illinois test (p<0.05). In conclusion, our study found that gene polymorphism is not a differentiating factor between professional and amateur soccer players, but speed (10m and 30m) and anaerobic power parameters are differentiating factors.