Terms Of Genotype Research Articles

Multidrug resistance Gene-1 polymorphisms (C3435T and G2677T) and the risk of inflammatory bowel disease in Egyptian patients

Background and study aimsThe multidrug resistance 1 (MDR1) gene is a gene involved in the pathogenesis of inflammatory bowel disease (IBD).The aim of the study is to investigate the association of MDR-1 gene polymorphisms (C2345T and G2677T) and IBD incidence in Egyptian patients, and its relation with disease severity. Patients and methodsThis is a case-control study where genotyping of MDR-1 gene C3435T and G2677T single nucleotide polymorphisms (SNPs) were assayed. ResultsForty naïve IBD patients, who were composed of 25 UC and 15CD, were compared to 60 healthy controls. They were young aged with significant female predominance, particularly in CD (P = 0.004). UC was mainly (48 %) presented in moderate severity while CD was mainly (53.3 %) presented with mild severity. MDR-1 gene C3435T SNP was not statistically related to IBD, whether in terms of genotypes or alleles, yet its T allele was significantly related to moderate cases of UC (P = 0.014). However, GG genotype of G2677T SNP was significantly low in IBD (P = 0.013), while TT genotype and T allele were significantly related to CD (P = 0.011, and 0.012 respectively). Moreover, G allele proved to be associated significantly with moderate cases of UC (P = 0.001) and mild cases of CD (P = 0.002). ConclusionsMDR-I gene G2677T SNP GG genotype proved to be protective against IBD, thus may be considered in diagnostic workup of IBD including its severity.

Can TERT rs2853669 polymorphysm indicate fibrosis in sarcoidosis?

Sarcoidosis is a systemic inflammatory disease of unknown cause, characterized by the presence of non-caseating granulomas, which can affect all organs in the body, especially the lung. The fibrotic stage 4 of sarcoidosis usually does not respond adequately to treatment and may cause respiratory distress in the patient. Some telomerase gene polymorphisms have been significantly associated with lung cancer and idiopathic pulmonary fibrosis. In our study, we aimed to investigate the relationship between telomerase mutation and progression to fibrosis in patients with sarcoidosis. A total of 93 patients, including 18 males and 73 females, who were clinically and histopathologically diagnosed with sarcoidosis were included in the study. The 78 patients included in the study were classified as non-fibrotic and 15 as fibrotic sarcoidosis. In telomerase rs2853669 single nucleotide polymorphism, three genotypes, homozygous TT, homozygous CC and heterozygous TC, were determined as the genotypes of the patients. When non-fibrotic and fibrotic sarcoidosis groups were compared, no significant difference was found in terms of genotypes (p=0.76). The FEV1 (forced expiratory volume in the first second) % of the CC genotype was lower than that of the other genotypes (p=0.01). In sarcoidosis patients, telomerase rs2853669 polymorphism does not indicate progression to fibrosis, but since FEV1% was found to be lower in individuals with homozygous CC polymorphism, it is thought that it may predict loss of respiratory function. Further studies are needed to evaluate the association of telomerase polymorphisms with fibrosis in sarcoidosis.

Association between chronic tinnitus and brain-derived neurotrophic factor antisense RNA polymorphisms linked to the Val66Met polymorphism in BDNF

Tinnitus is the sound heard in the ear or head of a person in the absence of external stimuli. Its etiopathogenesis is still not fully understood and the etiological causes responsible for tinnitus are quite variable. Brain-derived neurotrophic factor (BDNF) is one of the key neurotrophic factors in the growth, differentiation, and survival of neurons and in the developing auditory pathway, including the inner ear sensory epithelium. The regulation of BDNF gene is known to be managed by BDNF antisense (BDNF-AS) gene. BDNF-AS is located downstream of the BDNF gene and transcribes a long non-coding RNA. Inhibition of BDNF-AS upregulates BDNF mRNA, which increases protein levels and stimulates neuronal development and differentiation. Thus, BDNF and BDNF-AS both may play roles in the auditory pathway. Polymorphisms in both genes may have impact on hearing performance. A link was suggested between tinnitus and BDNF Val66Met polymorphism. However, there is no study questioning the relationship of tinnitus with BDNF-AS polymorphisms linked with BDNF Val66Met polymorphism. Therefore, this study aimed to scrutinize the role of BDNF-AS polymorphisms showing linkage with the BDNF Val66Met polymorphism in the course of tinnitus pathophysiology. Six BDNF-AS polymorphisms were analyzed on the tinnitus patients (n = 85) and the control subjects (n = 60) by Fluidigm Real-Time PCR using the Fluidigm Biomark microfluidic platform. When BDNF-AS polymorphisms were compared between the groups in terms of genotype and gender distribution, statistically significant differences were detected in rs925946, rs1519480, and rs10767658, polymorphisms (p less than 0.05). When the polymorphisms were compared by the duration of tinnitus, significant differences were found in rs925946, rs1488830, rs1519480, and rs10767658 polymorphisms (p less than 0.05). According to genetic inheritance model analysis, 2.33 and 1.53-fold risks were found for the rs10767658 polymorphism in the recessive and the additive models, respectively. For the rs1519480 polymorphism, a 2.25 fold risk was observed in the additive model. For the rs925946 polymorphism, 2.44 fold protective effect in dominant model, and 0.62 fold risk was found in the additive model. In conclusion, four of the polymorphisms in BDNF-AS gene (rs955946, rs1488830, rs1519480, and rs10767658) are potential gene loci that may play a role in the auditory pathway and affect auditory performance.

Potential role of FKBP5 single-nucleotide polymorphisms in functional seizures.

We investigated the associations between FKBP5 single-nucleotide polymorphisms (SNPs) and functional seizures (FS). Seventy patients with FS, 140 with major depressive disorder (MDD), and 140 healthy controls were studied. Their DNAs were analyzed for the rs1360780 in the 3' region and rs9470080 in the 5' region of the FKBP5. Childhood trauma questionnaire and hospital anxiety and depression scale were used. Patients with FS and those with MDD had less GG and more AA genotypes in both rs9470080 and rs1360780 SNPs compared with those in healthy controls. Similar results were observed for allelic frequencies. There were no significant differences between FS and MDD groups in terms of genotype and allelic frequencies for both SNPs. The results of multinomial logistic regression analysis showed that FKBP5 polymorphisms were not associated with the diagnosis. Patients with FS and those with MDD had significantly different genotypes in both rs9470080 and rs1360780 SNPs compared with those in healthy controls. However, it seems that FKBP5 polymorphisms were not associated with FS in the absence of depression. Further genetic investigations of patients with FS may increase our understanding of the neurobiological underpinnings of this condition, but such studies should be large enough and very well designed; they should include a comparison group with depression in addition to a healthy control group.

Serotonin, ghrelin, and motilin gene/receptor/transporter polymorphisms in childhood functional constipation.

Functional constipation is the most common form of constipation, and its exact aetiology is still unclear. However, it is known that deficiencies in hormonal factors cause constipation by changing physiological mechanisms. Motilin, ghrelin, serotonin acetylcholine, nitric oxide, and vasoactive intestinal polypeptide are factors that play a role in colon motility. There are a limited number of studies in the literature where hormone levels and gene polymorphisms of serotonin and motilin are examined. Our study aimed to investigate the role of motilin, ghrelin, and serotonin gene/receptor/transporter polymorphisms in constipation pathogenesis in patients diagnosed with functional constipation according to the Rome 4 criteria. Sociodemographic data, symptom duration, accompanying findings, the presence of constipation in the family, Rome 4 criteria, and clinical findings according to Bristol scale of 200 cases (100 constipated patients and 100 healthy control) who applied to Istanbul Haseki Training and Research Hospital, Pediatric Gastroenterology Outpatient Clinic, between March and September 2019 (6-month period) were recorded. Polymorphisms of motilin-MLN (rs2281820), serotonin receptor-HTR3A (rs1062613), serotonin transporter-5-HTT (rs1042173), ghrelin-GHRL (rs27647), and ghrelin receptor-GHSR (rs572169) were detected by real-time PCR. There was no difference between the two groups in terms of sociodemographic characteristics. Notably, 40% of the constipated group had a family history of constipation. The number of patients who started to have constipation under 24 months was 78, and the number of patients who started to have constipation after 24 months was 22. There was no significant difference between constipation and control groups in terms of genotype and allele frequencies in MLN, HTR3A, 5-HTT, GHRL, and GHSR polymorphisms (p<0.05). Considering only the constipated group, the rates of gene polymorphism were similar among those with/without a positive family history of constipation, constipation onset age, those with/without fissures, those with/without skin tag, and those with type 1/type 2 stool types according to the Bristol stool scale. Our study results showed that gene polymorphisms of these three hormones may not be related to constipation in children.

Determination of Genotypes in Cytomegalovirus (CMV) Strains Obtained from Pediatric and Adult Immunocompromised Patients

Background and Purpose: Cytomegalovirus causes asymptomatic disease in individuals with normal immune system; and leads to serious complications in immunocompromised individuals and fetus. In CMV, gB is the most studied glycoprotein in terms of genotyping. Up to now, four different gB genotypes (gB 1-4) of CMV have been identified. &#x0D; In this study, it was aimed to determine the genotypes of CMV strains obtained from patients with immune deficiency.&#x0D; Methods: Twenty children and 29 adults, 49 patients who were followed in the Department of Adult Hematology and Pediatric Hematology were included in the study. DNA isolation was performed from samples with CMV DNA level of 1000 IU / ml and above, and 474 bp region from the gB region of the virus was amplified by nested PCR. This region was sequenced by the Sanger (ABI 3500 Prism) sequencing. Next generation sequencing (NGS) method was applied to the samples that CMV genotype could not be determined by Sanger sequencing.&#x0D; Results: Distribution of CMV genotypes of patients determined by Sanger sequencing; while it was determined as 18/49 (36.7%) type 1, 5/49 (10.2%) type 2, 5/49 (10.2%) type 3 and 1/49 (2%) type 4; 14/49 (28.5%) of them were found as mixed genotypes. CMV genotype could not be determined in 6 patients by Sanger sequencing and CMV genotype of these 6 patients were found as mixed genoype by NGS. Mixed genotype was detected in 20 (40.9%) of 49 patients, in total by Sanger sequencing and NGS. &#x0D; Conclusion: It is remarkable that the most common genotype is mixed genotype. It was concluded that it is appropriate to study the next generation sequencing method in patients whose CMV genotype cannot be determined by Sanger sequencing.

Investigation of Vitamin D Receptor Gene rs731236 Polymorphism in Turkish Rugby Players

Vitamin D is an important molecule responsible for the development, contraction and regeneration of muscles, and activates its biological functions by means of its receptors, the vitamin D receptor (VDR), which is a member of the nuclear receptor group. In the present study, we aimed to analyze the rs731236 distribution in Turkish rugby players. A total of 22 male players and 30 sedentary individuals (as a control group) participated in the study. Following DNA isolation, rs731236 polymorphisms of VDR was determined by real-time polymerase chain reaction (RT- PCR). Statistical analysis was carried out by chi-square test. CC, CT and TT genotype and percentage distributions for rs731236 polymorphism in players were as 5 (23%), 10 (45%) and 7 (32%), respectively. Allelic distributions were found to be 20 (45%) for C allele, and 24 (55%) for T allele. For the control group; CC, CT and TT genotypes and percentages were as 4 (13%), 17 (57%) and 9 (30%), respectively. C allele was counted as 25 (42%) and 35 (58%) for controls. When we compare athletes and control groups in the terms of genotypes, we detected no statistically significant difference (p= 0.12). For the allele comparison, we detected no significant difference between groups (p= 0.76). Determination of gene combinations in athletes is of great importance for carrying out of the optimal training programs. Therefore, we aimed to determine the distribution of the alleles related with athletic performance on successful athletes. In our cohort, the CT genotype and T allele were more intensely determined in players.

A Generic Model to Estimate Wheat LAI over Growing Season Regardless of the Soil-Type Background.

It is valuable to develop a generic model that can accurately estimate the leaf area index (LAI) of wheat from unmanned aerial vehicle-based multispectral data for diverse soil backgrounds without any ground calibration. To achieve this objective, 2 strategies were investigated to improve our existing random forest regression (RFR) model, which was trained with simulations from a radiative transfer model (PROSAIL). The 2 strategies consisted of (a) broadening the reflectance domain of soil background to generate training data and (b) finding an appropriate set of indicators (band reflectance and/or vegetation indices) as inputs of the RFR model. The RFR models were tested in diverse soils representing varying soil types in Australia. Simulation analysis indicated that adopting both strategies resulted in a generic model that can provide accurate estimation for wheat LAI and is resistant to changes in soil background. From validation on 2 years of field trials, this model achieved high prediction accuracy for LAI over the entire crop cycle (LAI up to 7 m2 m-2) (root mean square error (RMSE): 0.23 to 0.89 m2 m-2), including for sparse canopy (LAI less than 0.3 m2 m-2) grown on different soil types (RMSE: 0.02 to 0.25 m2 m-2). The model reliably captured the seasonal pattern of LAI dynamics for different treatments in terms of genotypes, plant densities, and water-nitrogen managements (correlation coefficient: 0.82 to 0.98). With appropriate adaptations, this framework can be adjusted to any type of sensors to estimate various traits for various species (including but not limited to LAI of wheat) in associated disciplines, e.g., crop breeding, precision agriculture, etc.

The Investigation of MAPK7 Gene Variations in Colorectal Cancer Risk.

Mitogen-activated protein kinases (MAPKs) are important regulatory molecules, which have essential roles in physiology and pathology. In the present study, we examined the possible correlation between the MAPK7 gene and colorectal cancer risk in the Turkish population. A total of 100 human DNA samples (50 colorectal cancer patients and 50 healthy individuals) were sequenced using next-generation sequencing to define the potential genetic variations in the MAPK7 gene. Five genetic variations (MAPK7; rs2233072, rs2233076, rs181138364, rs34984998, rs148989290) were detected in our study group. The G (variant) allele of the MAPK7; rs2233072 (T>G) gene polymorphism was found in 76% of colorectal cancer cases, and 66% of controls. The prevalence of rs2233076, rs181138364, rs34984998, and rs148989290 gene variations was quite rare in the subjects and no significant association in terms of genotype and allele frequencies was observed between the cases and controls. No statistically significant correlation between the MAP7 kinase gene variations and colorectal cancer risk was observed. This is the first investigation in the Turkish population that may initiate additional studies in larger populations to analyze the effect of MAPK7 gene on the colorectal cancer risk.

Tumor Necrosis Factor-α, CD1A and CD1E Genetic Polymorphisms in Guillain-Barré Syndrome: A Study from India.

Guillain-Barré Syndrome (GBS) is an acute acquired autoimmune inflammatory disorder of peripheral nerves and roots. The pathogenesis is essentially an aberrant post-infectious immune response in a genetically susceptible host milieu. Single nucleotide polymorphisms (SNP) in genes encoding the inflammatory mediators like TNF-α, CD1A and CD1E can influence their expression and level and the susceptibility and clinical course of disease in GBS. We tried to study the susceptibility of single nucleotide polymorphisms of TNF-α and CD1 genes in Guillain-Barré Syndrome in Indian population and determine the association in terms of genotype, allele and haplotype distribution along with individual subtype, severity and clinical outcome. In this case-control study, we investigated the single nucleotide polymorphism pattern in the promoter region of TNF-α (-308 G/A), TNF-α (-863C/A), CD1A and CD1E genes using real-time polymerase chain reaction in 75 GBS patients and analysed in comparison with 75 age and sex-matched healthy controls. The findings revealed that the allelic distribution of TNF-α (-308 G/A) *A allele was associated with GBS (P value 0.04, Odds Ratio 2.03, 95% Confidence Interval 1.01-4.07). There was no association found with genotype, haplotype combination and other allele distribution for GBS in the study. CD1A and CD1E SNPs did not reveal any susceptibility for GBS. The subtype analysis did not reveal any statistical significance, except for CD1A *G allele with AMAN subtype (P value 0.026). The haplotypic combinations and mutant allele of TNF-α (-308 G/A), TNF-α (-863C/A), CD1A and CD1E were significantly associated with severe GBS in the study. However, there was no association of any SNP for mortality and survival of GBS in the study. TNF-α (-308 G/A)*A allele might confer genetic susceptibility for GBS in Indian population. CD1 genetic polymorphism could not be considered for susceptibility to GBS. TNF-α and CD1 genetic polymorphism did not affect mortality in GBS.

Investigation of yield and yield components of rapeseed (Brassica napus ssp. oleifera L.) genotypes in Trakya Region conditions

The genotype*environment interaction was investigated in terms of yield and yield components of rapeseed varietys and candidate varietys depending on the years the research was carried out in Tekirdağ conditions. This research; In 2014-2015 and 2015-2016, 9 rapeseed cultivars and cultivar candidates were carried out in Tekirdağ location with 4 replications according to the Randomized Complete Block Design. In the analysis of variance, significant differences were found at the level of P &lt; 0.01 and P &lt; 0.05 in terms of yield and yield components in terms of genotype, year and year*genotype interaction statistically. According to the results of the analysis, the average yield of the genotypes varied between 2854-5356 kg ha-1, and the average of the years ranged between 3356-5121 kg ha-1. NK Caravel, candidate 1 (DK Ekstorm), candidate 3 (DK Expower) and candidate 4 (NK Linus) varieties have come to the fore in rapeseed cultivation in Tekirdağ conditions. The best results in terms of seed yield and yield components were obtained from NK Caravel, candidate 4 (NK Linus) and PR44W29 varietys. As a result, year, genotype and year*genotype interactions were examined in terms of yield and yield components of cultivars in rapeseed cultivation, and it was concluded that NK Caravel, candidate 4 (NK Linus) and PR44W29 cultivars showed high performance in Tekirdağ conditions, and the effect of the environment was higher than the effect of genotype.

Role of Polymorphism of p53 Gene Codon 72 in HPV-associated oral lichen planus in south Indian population

Background: High-risk Human Papillomavirus infections, and polymorphism of the p53 gene, have been implicated in oral potentially malignant disorders. The present study determines whether the polymorphism at codon 72 of the p53 gene and the presence of HPV-16/18 strains are associated with OLP patients. Materials and methods: The biopsy specimens were obtained from 250 OLP individuals. The samples were processed for HPV-DNA analysis and polymorphism of the p53 gene using PCR. Data were analyzed by applying the Chi-square test. Results: There were 103 positive HPV sample specimens with 34 males and 69 females which were shown to be statistically significant (p&lt;0.001). Arg/Arg, Pro/Pro, and Arg/Pro were found in 19.4%, 31.1%, and 50% of HPV-positive cases of OLP, respectively, compared to 17%, 47%, and 36% of HPV-negative samples, which were found to be statistically significant between the two groups. The Arginine allele (44%) was more prevalent in HPV-associated OLP than in HPV-negative OLP cases (35%) which was found to be statistically significant between the groups. Conclusion: The results of the current study relate to the premalignant potential of OLP based on the occurrence of codon 72 of the p53 gene polymorphism in HPV-associated OLP patients in terms of genotype and allele.

Some Engineering Characteristics of Shelled and Unshelled Snack Sunflower Seeds

In this study, the engineering characteristics of the shelled and unshelled sunflower seeds of the AYBAK-2013-12-DAÇ13099, AYBAK-2013-17-DAÇ130104, and 09 TRÇ 004 genotypes were determined. Moisture contents of the sunflower genotypes used in the study were determined as 7.22%, 7.08%, 7.34% of the shelled seeds, and 4.73%, 4.19%, and 4.46% (n.b) of the unshelled sunflower seeds, respectively. Dimensions, geometric mean diameter, sphericity, and surface area values of shelled and unshelled sunflower seeds showed statistically significant differences in terms of genotypes (p

Correlation between 5-HTTLPR gene polymorphism and cognitive function of traumatic stress in Chinese Han children.

BackgroundPost-traumatic stress disorder (PTSD) is a trauma-related psychological disorder with serious social and familial impacts. The involvement of 5-hydroxytryptamine transporter gene-linked polymorphic region (5-HTTLPR) in numerous mental disorders has been documented. This study explored the correlation between 5-HTTLPR gene polymorphism and cognitive function in Chinese Han children with PTSD.MethodsA total of 60 PTSD children treated from December 2019 to December 2021 were selected as study participants, with another 60 healthy children selected as controls. We assessed the cognitive function of participants using the Mini-Mental State Examination (MMSE). Additionally, the PTSD level was estimated by the Children’s Revised Impact of Event Scale (CRIES). The 5-HTTLPR gene polymorphism was detected by reverse transcription quantitative polymerase chain reaction (RT-qPCR). The genotype and allele frequency were evaluated via case-control association analysis.ResultsChildren in the PTSD group showed low MMSE scores and high CRIES scores. In terms of genotype, cases of LL, LS, and SS in PTSD children were 4 (6.67%), 20 (33.3%), and 36 (60.00%), and 18 (30.00%), 28 (46.67%), and 14 (23.33%) cases in healthy controls. In terms of allele gene frequency, incidences of L and S were 23.33% and 76.67% in PTSD children, respectively, and were 53.33% and 46.67% in healthy controls, respectively. Moreover, the CRIES and MMSE scores of LS and SS genotypes were evidently different from those of LL genotype in PTSD children.ConclusionsPolymorphism of the 5-HTTLPR gene is correlated with cognitive dysfunction in Chinese Han children with PTSD.

GRANULYSIN PEPTIDE AND GENE POLYMORPHISM IN THE PATHOGENESIS OF HASHIMOTO THYROIDITIS.

Hashimoto thyroiditis (HT) is an autoimmune disease and the most common cause of hypothyroidism. The widespread lymphocyte infiltration in the thyroid gland and intolerance of the body against its thyroid antigens leads to the destruction of thyroid cells and impaired thyroid function. Granulysin (GNLY) is a cytolytic antimicrobial peptide that has been associated with a wide range of diseases such as various infections, cancer, transplantation, and skin problems. However, there are a few studies investigating the relationship between HT and granulysin. Our study aims to investigate whether granulysin levels and GNLY gene polymorphism contribute to the damaged immune response leading to HT. 100 unrelated patients diagnosed with HT and 140 healthy individuals were included in our study. Frequencies of GNLY rs10180391 and rs7908 gene polymorphisms were determined using PCR- RFLP method and serum granulysin levels were determined using ELISA. There is no statistical significance between patient and control groups in terms of genotype and allele frequencies of GNLY gene polymorphisms and serum levels of granulysin. In conclusion, granulysin and GNLY gene polymorphisms do not appear to relate to HT disease.

Unsupervised Plot-Scale LAI Phenotyping via UAV-Based Imaging, Modelling, and Machine Learning.

High-throughput phenotyping has become the frontier to accelerate breeding through linking genetics to crop growth estimation, which requires accurate estimation of leaf area index (LAI). This study developed a hybrid method to train the random forest regression (RFR) models with synthetic datasets generated by a radiative transfer model to estimate LAI from UAV-based multispectral images. The RFR models were evaluated on both (i) subsets from the synthetic datasets and (ii) observed data from two field experiments (i.e., Exp16, Exp19). Given the parameter ranges and soil reflectance are well calibrated in synthetic training data, RFR models can accurately predict LAI from canopy reflectance captured in field conditions, with systematic overestimation for LAI<2 due to background effect, which can be addressed by applying background correction on original reflectance map based on vegetation-background classification. Overall, RFR models achieved accurate LAI prediction from background-corrected reflectance for Exp16 (correlation coefficient (r) of 0.95, determination coefficient (R2) of 0.90~0.91, root mean squared error (RMSE) of 0.36~0.40 m2 m−2, relative root mean squared error (RRMSE) of 25~28%) and less accurate for Exp19 (r =0.80~0.83, R2 = 0.63~0.69, RMSE of 0.84~0.86 m2 m−2, RRMSE of 30~31%). Additionally, RFR models correctly captured spatiotemporal variation of observed LAI as well as identified variations for different growing stages and treatments in terms of genotypes and management practices (i.e., planting density, irrigation, and fertilization) for two experiments. The developed hybrid method allows rapid, accurate, nondestructive phenotyping of the dynamics of LAI during vegetative growth to facilitate assessments of growth rate including in breeding program assessments.

Correlation of Four Single Nucleotide Polymorphisms of the RELN Gene With Schizophrenia.

This study aims to determine the association between single-nucleotide polymorphisms (SNPs) of the RELN gene and schizophrenia. 134 patients aged 16 to 58 (mean, 38.0) years who were diagnosed with acute or chronic schizophrenia at the Zhongshan Third People's Hospital between January 2018 and April 2020 were recruited, as were 64 healthy controls aged 22 to 59 (mean, 45.6) years who matched with the age and sex of the patients. MassARRAY mass spectrometry genotyping technology was used to determine the genotypes of four SNPs of RELN (rs2073559, rs2229864, rs362691, and rs736707). There were no significant between-group or between-sex differences in terms of genotype, allele frequency, or haplotype frequency of the SNPs (all p > 0.05). In the association analysis between genotypes and quantitative traits in the Positive and Negative Syndrome Scale, rs2229864 and rs736707 were associated with the scores for items P3 (hallucinatory behaviour) and G11 (attention disorder), and rs362691 was associated with G10 (disorientation). However, the associations did not remain significant after Bonferroni correction. Multiple pathogenic polymorphisms of RELN might be associated with hallucinatory behaviour and attention disorder in Chinese patients with schizophrenia.

Possible relationship between IL28B rs12979860 and TLR2 -196 to -174 del/ins polymorphisms and the liver fibrosis stage in hepatitis C patients.

It has been shown that host factors play an important role in the progression of hepatitis C virus (HCV) infection. Toll-like receptor 2 (TLR2) del and interleukin 28B (IL28B) T alleles can mediate liver inflammation and pathogenesis of hepatocellular carcinoma. In the present study, the possible relationship between the IL28B rs12979860 C/T and TLR2 -196 to -174 del/ins gene variants and different fibrosis stages and host factors in hepatitis C patients was investigated. IL28B and TLR2 polymorphisms in the blood of 50 hepatitis C patients at different stages of fibrosis (24 mild/moderate, 26 advanced) and 24 healthy controls were examined by RT-qPCR. The highest frequency of the TLR2 del (26.9%) and IL28B T (46.2%) alleles was found in hepatitis C patients with the most advanced fibrosis, and the lowest frequency was found in healthy controls. There was a statistically significant difference between hepatitis C patients with advanced fibrosis and healthy controls in terms of the TLR2 del (p = 0.0062) and IL28B T (p = 0.0017) allele frequencies. However, no statistically significant difference was found between the mild/moderate fibrosis and severe fibrosis patient groups in terms of genotype or IL28B and TLR2 polymorphisms (p > 0.05). In addition, there was a significant difference between patients with mild/moderate or advanced fibrosis who carried the TLR2 del allele together with the IL28B CT genotype and healthy controls. The present study emphasizes that the TLR2 and IL28B gene variants cannot be single biomarkers for the determination of fibrosis stage in hepatitis C infection but together can play an important role in predicting severe disease.

Feasibility and Acceptability of a Pharmacogenomic Decision Support System in Palliative Care.

Context: Pharmacogenomic analysis may improve the efficacy or safety of the drugs used in palliative care. Decision support systems may promote clinical integration of this information. Objectives: To determine the feasibility and acceptability of a pharmacist-directed pharmacogenomic decision support system in the care of patients with advanced illness and explore the drug-gene and drug-drug interactions that occur in this population. Methods: Physicians or nurse practitioners from two U.S. hospice agencies identified opioid-treated patients receiving multiple other drugs. Buccal samples and clinical data were obtained from consenting patients. A pharmacist used the proprietary MedWise™ platform to evaluate the current medications in terms of genotype and phenotype, created a standardized report describing potential interactions and recommended actions that may reduce the associated risk. Clinicians could access the report online and completed Likert-type scales to assess use and satisfaction with the system. Results: Twenty clinicians and 100 patients participated. The reports revealed that 74 drugs were subject to 462 drug-gene interactions and 77 were involved in 691 drug-drug interactions; only 4 and 16 patients, respectively, had no drug-gene or drug-drug interactions. Clinicians routinely checked the reports and used the information to change ≥1 treatments in 55 (55%) patients. Almost all clinicians rated the system likely to improve the quality of care and all "agreed" or "strongly agreed" to recommend the system to colleagues. Conclusion: This pharmacist-directed pharmacogenomic decision support system was perceived positively and was integrated into practice. Further studies are warranted to its clinical integration and its outcomes.

Preliminary Findings of the Distribution of Alpha-2-Adrenergic Receptor (ADRA2A) rs1800544 Polymorphisms in Kickboxing Players

Objective: Adrenergic receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and adrenergic neurons in the central nervous system. The rs1800544 polymorphism in 3’-untranslated region of ADRA2A is caused by C-1291&gt;G nucleotide change. In this study, we aimed to analyze the rs1800544 distribution in kickboxing players.&#x0D; &#x0D; Methods: A total of 12 male players and 101 sedentary individuals (as a control group) participated in the study. Following DNA isolation, rs1800544 polymorphism of ADRA2A was determined by real-time polymerase chain reaction (Rt-PCR). Statistical analysis was carried out by chi-square test. &#x0D; &#x0D; Results: CC, CG and GG genotypes and percentages for rs1800544 polymorphism were analyzed as 5 (41,7%), 4 (33,3%) and 3 (25%), respectively. C allele was counted as 14 (58,3%) and G allele as 10 (41,7%). In the control group CC, CG and GG were found as 34 (33,6%), 53 (52,5%), 14(13,9%), respectively. C allele was counted as 121 (60%) and G allele as 81 (40%). When we compare athletes and controls in the terms of genotypes, we detected no statistically significant difference (p&gt;0,3940). For the allele comparison, we detected no significant difference between groups (p&gt;0,0871). &#x0D; &#x0D; Conclusion: Determination of gene combinations in Turkish athletes is of great importance for carrying out of these studies. Therefore, we aimed to determine the distribution of the alleles related with athletic performance on successful athletes. In our cohort, CC genotype was more frequently found, and C allele was also higher in players. We think that the effect of ADR2A2 gene on athletic performance might be determined more clearly by the fact that this study is an example of similar studies involving higher numbers of subjects.