JNBS
Üsküdar Üniversitesi

ARTICLES

Original Article

Evaluating of Solute Carrier Family 6 Member 4 Gene (SLC6A4) Promoter Polymorphisms with Escitalopram Plasma Levels for Precision Medicine in Major Depressive Disorder

Turkish Title : Evaluating of Solute Carrier Family 6 Member 4 Gene (SLC6A4) Promoter Polymorphisms with Escitalopram Plasma Levels for Precision Medicine in Major Depressive Disorder

Canbolat Fadime,Erinc Dilek Meltem Tasdemir,Sercan Canan,Evrensel Alper,Ulucan Korkut,Aydın Ahmet,Tarhan Kasif Nevzat
JNBS, 2021, 8(1), p:62-69

DOI : 10.4103/jnbs.jnbs_44_20

Aim and Objective: Escitalopram (SCT) shows an antidepressant effect due to its mechanism of increasing the serotonin level by inhibiting the serotonin transporter protein (5HTT). 5HTT is encoded by solute carrier family 6 member 4 gene (SLC6A4) in the brain. Recognition of SCT plasma level of patients and pharmacodynamics of individuals during SCT treatment will increase the expected response to the treatment and reduce the adverse effects. This study aims to determine the effect of SLC6A4 promoter long/ short polymorphism and the SCT plasma level of patients on the response to treatment during the SCT drug therapy. Materials and Methods: Blood and plasma samples of 30 major depressive patients using 20 mg SCT for 8 weeks between the ages of 18 and 65 were analyzed to determine SCT plasma level and SLC6A4 promoter polymorphism. The treatment response level was determined by using the Hamilton Depression Rating Scale at patient files. Results: SCT plasma level of the nine patients with LL polymorphism was found to be in the range of 13.40–63.36 ng/mL. For 13 patients with LS polymorphism, SCT plasma level was found to be in the range of 2.93–57.48 ng/mL. For eight patients with SS polymorphism, the SCT plasma level was found to be in the range of 0.95–49.32 ng/mL. Conclusion: When the association between SCT plasma level and response to the drug treatment was examined, we had significant results to show that SCT level affected the response to treatment, especially in the LS group, as well as the SLC6A4 promoter variation. This study may lead to a more profound understanding of rational drug therapy as well as to a careful application of pharmacogenetics in psychiatry.

Aim and Objective: Escitalopram (SCT) shows an antidepressant effect due to its mechanism of increasing the serotonin level by inhibiting the serotonin transporter protein (5HTT). 5HTT is encoded by solute carrier family 6 member 4 gene (SLC6A4) in the brain. Recognition of SCT plasma level of patients and pharmacodynamics of individuals during SCT treatment will increase the expected response to the treatment and reduce the adverse effects. This study aims to determine the effect of SLC6A4 promoter long/ short polymorphism and the SCT plasma level of patients on the response to treatment during the SCT drug therapy. Materials and Methods: Blood and plasma samples of 30 major depressive patients using 20 mg SCT for 8 weeks between the ages of 18 and 65 were analyzed to determine SCT plasma level and SLC6A4 promoter polymorphism. The treatment response level was determined by using the Hamilton Depression Rating Scale at patient files. Results: SCT plasma level of the nine patients with LL polymorphism was found to be in the range of 13.40–63.36 ng/mL. For 13 patients with LS polymorphism, SCT plasma level was found to be in the range of 2.93–57.48 ng/mL. For eight patients with SS polymorphism, the SCT plasma level was found to be in the range of 0.95–49.32 ng/mL. Conclusion: When the association between SCT plasma level and response to the drug treatment was examined, we had significant results to show that SCT level affected the response to treatment, especially in the LS group, as well as the SLC6A4 promoter variation. This study may lead to a more profound understanding of rational drug therapy as well as to a careful application of pharmacogenetics in psychiatry.


Original Article

THE DISTRIBUTION OF BRAIN-DERIVED NEUROTROPHIC FACTOR (BDNF) RS6265 POLYMORPHISM IN TURKISH VOLLEYBALL PLAYERS

Turkish Title : THE DISTRIBUTION OF BRAIN-DERIVED NEUROTROPHIC FACTOR (BDNF) RS6265 POLYMORPHISM IN TURKISH VOLLEYBALL PLAYERS

Polat Tolga,Doğan Canan Sercan,Eken Başak Funda,Yılmaz Özlem Özge,Şılar Çisem,Karapınar Gözdem,Baltacıoğlu Begümsu,Ekmekçi Rıdvan,Ulucan Korkut
JNBS, 2020, 7(3), p:147-151

DOI : 10.4103/jnbs.jnbs_28_20

Athletic performance is associated with many environmental factors such as inborn genetic factors, nutrition, psychological factors, and education. We aimed to analyze the brain derived neurotrophic factor (BDNF) rs6265 polymorphism, which is an important genetic marker related to psychological factors, in 21 professional female volleyball players and compare it with the control group. Genotyping was assessed by Real-time PCR technique. BDNF rs6265 polymorphism genotypes were calculated as 72% and 28% for GG and GA in volleyball players, respectively. No AA genotype was detected. In the control group, the GG, GA and AA genotype percentages were calculated as 57.8, 36.3 and 5.9, respectively. In the allelic distribution, the percentages in the athlete group were calculated as 86% (36) for the G allele and 14% (6) for the A allele, respectively. In the control group, for the G and A alleles, respectively; it was 76.25% and 23.75%. No statistical significance was found in terms of both genotype distribution (p = 0.407) and allelic frequency distribution (p = 0.218). Our results were in line with data indicating the stress and anxiety-related nature of professional volleyball players. More studies with more athletes and more groups of athletes are needed to understand the effect of these parameters on volleyball players.

Athletic performance is associated with many environmental factors such as inborn genetic factors, nutrition, psychological factors, and education. We aimed to analyze the brain derived neurotrophic factor (BDNF) rs6265 polymorphism, which is an important genetic marker related to psychological factors, in 21 professional female volleyball players and compare it with the control group. Genotyping was assessed by Real-time PCR technique. BDNF rs6265 polymorphism genotypes were calculated as 72% and 28% for GG and GA in volleyball players, respectively. No AA genotype was detected. In the control group, the GG, GA and AA genotype percentages were calculated as 57.8, 36.3 and 5.9, respectively. In the allelic distribution, the percentages in the athlete group were calculated as 86% (36) for the G allele and 14% (6) for the A allele, respectively. In the control group, for the G and A alleles, respectively; it was 76.25% and 23.75%. No statistical significance was found in terms of both genotype distribution (p = 0.407) and allelic frequency distribution (p = 0.218). Our results were in line with data indicating the stress and anxiety-related nature of professional volleyball players. More studies with more athletes and more groups of athletes are needed to understand the effect of these parameters on volleyball players.


Original Article

DISTRIBUTION OF DOPAMINE RECEPTOR 2 (DRD2) RS1800497 POLYMORPHISMS IN PROFESSIONAL CYCLIST

Turkish Title : DISTRIBUTION OF DOPAMINE RECEPTOR 2 (DRD2) RS1800497 POLYMORPHISMS IN PROFESSIONAL CYCLIST

Karagöz Esra,Şılar Çisem,Yılmaz Özlem Özge,Polat Tolga,Aslan Beste Tacal,Baltacıoğlu Begüm Su,Dogan Canan Sercan,Kaman Tugba,Ulucan Korkut
JNBS, 2020, 7(3), p:166-169

DOI : 10.4103/jnbs.jnbs_34_20

Genetic and environmental factors are important determinants of the athletic performance. Sports genetic determines certain the alleles for the identification of the genes that affect athletic performance. Comprehensive researches, including the biology of mental properties are accumulating due to the improvement of the information of molecular biology. Dopamine is an important neurotransmitter of the dopaminergic system that affects the athlete mentally and psychologically. In this study, our goal is to determine the genotype and allele distributions of the DRD2 rs180047 polymorphism in the cyclists. 19 cyclists and 52 sedentary individuals (controls) participated in our study. Genotyping was carried out by real time PCR (rt-PCR) after DNA was isolated from buccal epithelial cells. In our cohort, AG and GG genotypes were detected as 6 (32%) and 13 (68%), respectively. In the control group, the respective AA, AG and GG genotypes were detected as 9 (17%), 18 (35%) and 25 (48%). No statistically significant difference was detected in terms of genotype distribution between the two groups (p= 0,1107). When allelic distributions were examined, in athlete cohort. A and G allele numbers were counted as 6 (16%) and 32 (84%), respectively. In the control group, same alleles were count as 36 (35%) and 68 (65%). There was no significant difference in the terms of alleles in our study cohort (p=0,0295). In our cohort, GG genotype and the G allele of the DRD2 rs1800497 polymorphism were dominant. Recent studies showed the association of the A allele with addiction. Therefore we hypothesized the association of the related allele and sucess in cyclists. Although we were unable to find statistically significant difference, we suggest to analyse the same polymorphism in athletes with different sport branches to fulfill the role of the given polymorphism.

Genetic and environmental factors are important determinants of the athletic performance. Sports genetic determines certain the alleles for the identification of the genes that affect athletic performance. Comprehensive researches, including the biology of mental properties are accumulating due to the improvement of the information of molecular biology. Dopamine is an important neurotransmitter of the dopaminergic system that affects the athlete mentally and psychologically. In this study, our goal is to determine the genotype and allele distributions of the DRD2 rs180047 polymorphism in the cyclists. 19 cyclists and 52 sedentary individuals (controls) participated in our study. Genotyping was carried out by real time PCR (rt-PCR) after DNA was isolated from buccal epithelial cells. In our cohort, AG and GG genotypes were detected as 6 (32%) and 13 (68%), respectively. In the control group, the respective AA, AG and GG genotypes were detected as 9 (17%), 18 (35%) and 25 (48%). No statistically significant difference was detected in terms of genotype distribution between the two groups (p= 0,1107). When allelic distributions were examined, in athlete cohort. A and G allele numbers were counted as 6 (16%) and 32 (84%), respectively. In the control group, same alleles were count as 36 (35%) and 68 (65%). There was no significant difference in the terms of alleles in our study cohort (p=0,0295). In our cohort, GG genotype and the G allele of the DRD2 rs1800497 polymorphism were dominant. Recent studies showed the association of the A allele with addiction. Therefore we hypothesized the association of the related allele and sucess in cyclists. Although we were unable to find statistically significant difference, we suggest to analyse the same polymorphism in athletes with different sport branches to fulfill the role of the given polymorphism.


Original Article

Determination of SLC6A4 promoter L/S polymorphism in professional volleyball players and comparison of the literature

Turkish Title : Profesyonel voleybolcularda slc6a4 promotör l/s polimorfizminin belirlenmesi ve literatür karşılaştırılması

Yiğit Selin,Polat Tolga,Doğan Canan Sercan,Tunalı Seçil,Ekmekçi Rıdvan,Ulucan Korkut
JNBS, 2020, 7(2), p:65-69

DOI : 10.4103/JNBS.JNBS_8_20

We aimed to determine the genotype and allele distributions of the serotonin transporter protein gene (SLC6A4) promoter L/S polymorphism in volleyball players and compare it with the previous studies in the literature in this study. For this purpose, 21 volleyball players participated in our study. Genotyping was performed by PCR after DNAs were isolated from buccal cells. The literature review has been done in Google Scholar and PUBMED databases with the keywords and combinations of “sports, athletes, genetics, SLC6A4, sports genetics, polymorphism”. In our cohort, LL, LS and SS genotypes were found in numbers and percentages as 10 (48%), 7 (33%) and 4 (19%), respectively. The respective L and S allele count numbers and percentages were 27 (64%) and 15 (36%). 9 different studies matched our criteria and compared with our findings with literature review. As a result, the low percentage of SS genotype in terms of genotype distribution was common with the previous studies and our findings. The S allele percentage was higher than our results just in one research. Recent studies have shown that the “S” allele is associated with anxiety. Our study was the first report to show that the LL genotype and L allele in volleyball players are higher than the SS genotype and S allele.

Çalışmamızda, voleybolcularda serotonin taşıyıcı protein geni (SLC6A4) promotör L/S polimorfizminin genotip ve allel dağılımlarını belirlemeyi ve literatürde bulunan önceki çalışmalar ile karşılaştırmayı hedefledik. Bu amaçla çalışmamıza 21 voleybolcu katıldı. Genotipleme işlemi, yanak içi epitel hücrelerinden DNA elde edildikten sonra PCR ile gerçekleştirilmiştir. Literatür taraması Google Akademik ve PUBMED veri tabanlarında “spor, sporcu, genetik, SLC6A4, spor genetiği, polimorfizm” anahtar kelimeler ve kombinasyonları ile yapılmıştır. Kohortumuzda LL, LS ve SS genotipleri sayı ve yüzde olarak sırasıyla 10 (%48), 7 (%33) ve 4 (%19) olarak bulundu. L ve S allel sayı ve yüzdeleri ise sırasıyla 27 (%64) ve 15 (%36) olarak bulunmuştur. Yapılan literatür araması ile 9 farklı çalışma kriterlerimize uygun bulunmuş ve bulgularımız ile karşılaştırılmıştır. Sonuç olarak, genotip dağılımı açısından SS genotipinin yüzdece düşük olması, diğer çalışmalar ve bizim bulgularımız ile ortaktır. Sadece bir çalışmada S alleli yüzdece daha fazla bulunmuştur. Son dönemlerde yapılan çalışmalar “S” allelinin anksiyete ile ilişkilendirildiğini göstermiştir. Çalışmamız, voleybolculardaki LL genotip ve L allelinin, SS genotip ve S allelinden yüzdece daha yüksek olduğunu gösteren ilk rapordur. 


ISSN (Print) 2149-1909
ISSN (Online) 2148-4325

2020 Ağustos ayından itibaren yalnızca İngilizce yayın kabul edilmektedir.