Piece and parcel of gymnosperm organellar genomes.

MAIN CONCLUSION: Significant past, present, and potential future research into the organellar (plastid and mitochondrial) genomes of gymnosperms that can provide insight into the unknown origin and evolution of plants is highlighted. Gymnosperms are vascular seed plants that predominated the ancient world before their sister clade, angiosperms, took over during the Late Cretaceous. The divergence of gymnosperms and angiosperms took place around 300 Mya, with the latter evolving into the diverse group of flowering plants that dominate the plant kingdom today. Although gymnosperms have reportedly made some evolutionary innovations, the literature on their genome advances, particularly their organellar (plastid and mitochondrial) genomes, is relatively scattered and fragmented. While organellar genomes can shed light on plant origin and evolution, they are frequently overlooked, due in part to their limited contribution to gene expression and lack of evolutionary dynamics when compared to nuclear genomes. A better understanding of gymnosperm organellar genomes is critical because they reveal genetic changes that have contributed to their unique adaptations and ecological success, potentially aiding in plant survival, enhancement, and biodiversity conservation in the face of climate change. This review reveals significant information and gaps in the existing knowledge base of organellar genomes in gymnosperms, as well as the challenges and research needed to unravel their complexity.

Economic costs of non-native species in Türkiye: A first national synthesis.

Biological invasions are increasingly recognised as a major global change that erodes ecosystems, societal well-being, and economies. However, comprehensive analyses of their economic ramifications are missing for most national economies, despite rapidly escalating costs globally. Türkiye is highly vulnerable to biological invasions owing to its extensive transport network and trade connections as well as its unique transcontinental position at the interface of Europe and Asia. This study presents the first analysis of the reported economic costs caused by biological invasions in Türkiye. The InvaCost database which compiles invasive non-native species' monetary costs was used, complemented with cost searches specific to Türkiye, to describe the spatial and taxonomic attributes of costly invasive non-native species, the types of costs, and their temporal trends. The total economic cost attributed to invasive non-native species in Türkiye (from 202 cost reporting documents) amounted to US$ 4.1 billion from 1960 to 2022. However, cost data were only available for 87 out of 872 (10%) non-native species known for Türkiye. Costs were biased towards a few hyper-costly non-native taxa, such as jellyfish, stink bugs, and locusts. Among impacted sectors, agriculture bore the highest total cost, reaching US$ 2.85 billion, followed by the fishery sector with a total cost of US$ 1.20 billion. Management (i.e., control and eradication) costs were, against expectations, substantially higher than reported damage costs (US$ 2.89 billion vs. US$ 28.4 million). Yearly costs incurred by non-native species rose exponentially over time, reaching US$ 504 million per year in 2020-2022 and are predicted to increase further in the next 10 years. A large deficit of cost records compared to other countries was also shown, suggesting a larger monetary underestimate than is typically observed. These findings underscore the need for improved cost recording as well as preventative management strategies to reduce future post-invasion management costs and help inform decisions to manage the economic burdens posed by invasive non-native species. These insights further emphasise the crucial role of standardised data in accurately estimating the costs associated with invasive non-native species for prioritisation and communication purposes.

The Global Naturalized Alien Flora (GloNAF) database.

This dataset provides the Global Naturalized Alien Flora (GloNAF) database, version 1.2. GloNAF represents a data compendium on the occurrence and identity of naturalized alien vascular plant taxa across geographic regions (e.g. countries, states, provinces, districts, islands) around the globe. The dataset includes 13,939 taxa and covers 1,029 regions (including 381 islands). The dataset is based on 210 data sources. For each taxon-by-region combination, we provide information on whether the taxon is considered to be naturalized in the specific region (i.e. has established self-sustaining populations in the wild). Non-native taxa are marked as "alien", when it is not clear whether they are naturalized. To facilitate alignment with other plant databases, we provide for each taxon the name as given in the original data source and the standardized taxon and family names used by The Plant List Version 1.1 (http://www.theplantlist.org/). We provide an ESRI shapefile including polygons for each region and information on whether it is an island or a mainland region, the country and the Taxonomic Databases Working Group (TDWG) regions it is part of (TDWG levels 1-4). We also provide several variables that can be used to filter the data according to quality and completeness of alien taxon lists, which vary among the combinations of regions and data sources. A previous version of the GloNAF dataset (version 1.1) has already been used in several studies on, for example, historical spatial flows of taxa between continents and geographical patterns and determinants of naturalization across different taxonomic groups. We intend the updated and expanded GloNAF version presented here to be a global resource useful for studying plant invasions and changes in biodiversity from regional to global scales. We release these data into the public domain under a Creative Commons Zero license waiver (https://creativecommons.org/share-your-work/public-domain/cc0/). When you use the data in your publication, we request that you cite this data paper. If GloNAF is a major part of the data analyzed in your study, you should consider inviting the GloNAF core team (see Metadata S1: Originators in the Overall project description) as collaborators. If you plan to use the GloNAF dataset, we encourage you to contact the GloNAF core team to check whether there have been recent updates of the dataset, and whether similar analyses are already ongoing.

Combined point mutations in codon 12 and 13 of KRAS oncogene in prostate carcinomas.

Prostate cancer is a common malignancy that develops by structural mutation(s) and/or other genetic alterations in specific genes.The G to T transversions in codon 12 and C to T transitions in codon 13 of KRAS proto-oncogene are predominant point mutations that occur in about 20% of different cancers in human. In the current study it was aimed to investigate the prevalence and predictive significance of KRAS mutations in patients with prostate carcinomas. In a total of 30 fresh tumoural tissue specimens were investigated in patients with prostate carcinoma. All tumoural specimens were histo-pathologically diagnosed and genotyped for codon 12, 13 KRAS point mutations by reverse hybridisation and direct sequencing methods. KRAS mutations were found in 12 (40%) samples with 29 samples deriving from adenocarcinomas and 1 sample was small cell prostate carcinoma. In 1 (3.44%) sample codon 12 was found to be mutated and in 2 (6.8%) samples codon 13 and in 9 (31%) samples combined codon 12 and 13 were found to be mutated particularly in higher grade of tumoural tissues. Our study, based on representative collection of human prostate tumours, indicates that combined mutations in codons 12 and 13 KRAS are relatively infrequent and most commonly occur in prostate carcinomas.

The prevalence of VKORC1 1639 G>A and CYP2C9*2*3 genotypes in patients that requiring anticoagulant therapy in Turkish population.

The aim was to investigate the prevalence of VKORC1 and CYP2C9 genotypes in patients requiring anticoagulant therapy in two different region's populations of Turkey. The recent cohort included 292 patients that needed anticoagulant therapy, and who had a history of deep vein thrombosis and/or pulmonary artery thromboembolism. Genomic DNA was isolated from peripheral blood samples and the StripAssay reverse hybridization or Real Time PCR technique was used for genotype analysis. Genotypes for CYP2C9 were detected as follows: 165 (56.5 %) for CYP2C9*1/*1, 67 (23.0 %) for CYP2C9*1/*2, 25 (8.6 %) for CYP2C9*1/*3, 9 (3.0 %) for CYP2C9*2/*2, 21 (7.2 %) for CYP2C9*2/*3, 5(1.7 %) for CYP2C9*3/*3 for CYP2C9 and the allele frequencies were: 0.723 for allele*1, 0.182 for allele*2 and 0.095 for allele*3 respectively. Genotypes for VKORC1 were detected as follows: 64 (21.9 %) for GG, 220 (75.4 %) for GA and 8 (2.7 %) for AA alleles. The G allele frequency was detected as 0.596, and the A allele frequency was 0.404. The VKORC1 1639 G>A and CYP2C9 mutation prevalence and allele frequency of the current results from two different populations (Sivas and Canakkale) showed similarly very variable profiles when compared to the other results from the Turkish population.

Does the maxillary sinus have a triggering role in nasal nitric oxide synthesis?

OBJECTIVES: We investigated whether the maxillary sinus plays a stimulatory role in nasal nitric oxide (NO) synthesis. Research on sinusitis and nasal polyps has found low NO levels in exhaled air and linked this to obstruction of the ostium. However, the major source of NO in exhaled air is thought to be the nasal mucosa. In this study, Streptococcus pneumoniae was applied to the maxillary sinus to investigate changes in NO synthesis of the nasal mucosa. METHODS: An experimental study was performed with New Zealand white rabbits. Three groups, pneumococcus, control and sham, were created. The maxillary sinus of the pneumococcal group was exposed to Streptococcus pneumoniae suspension. Before and after the exposure, bilateral biopsy specimens were taken from the inferior turbinate. Specimens were examined by RT-PCR for expressions of endothelial nitric oxide synthase (e-NOS) and inducible nitric oxide synthase (i-NOS). Physiological saline solution was administered to the maxillary sinus in the control group and biopsies were obtained. The sham group underwent only biopsy. RESULTS: A significant increase in i-NOS expression of tissue samples from the pneumococcal group on the same and opposite sides were detected. There was no increase in e-NOS expression in this group. The control and sham groups had no significant change in i-NOS or e-NOS expression. CONCLUSION: In the acute period after the maxillary sinus is exposed to a pathogen, i-NOS expression increases in the nasal mucosa, but endothelial NOS expression is not affected. Consequently, a combined response in the maxillary sinus and the nasal mucosa for nitric oxide synthesis is shown in the present study.

Syncronized Warthin's tumor in bilateral parotid gland and nasopharynx.

Warthin's tumor is a benign salivary gland tumor of the parotid gland. Although bilateral or multicentric involvement of the parotid gland is common, extraparotid involvement is seen rarely. The nasopharynx is an unusual region for extraparotid involvement. In this article, we present a 52-year-old male case with a synchronized Warthin's tumor in the bilateral parotid gland and nasopharynx, and we discuss the clinical management of the disease.

Association between ABCB1 (MDR1) gene 3435 C>T polymorphism and colchicine unresponsiveness of FMF patients.

The multidrug resistance gene-1 (MDR1, adenosine triphosphate-binding cassette transporter: ABCB1, P-glycoprotein) encodes membrane proteins that play a crucial role in protecting cells from xenobiotics, chemicals, and drugs. The TT genotype of 3435 codon in exon 26 of MDR1 gene causes overexpression of gene activity and effluxes many chemically diverse compounds across the plasma membrane. We studied the association between C3435T polymorphisms (single nucleotide polymorphism) of MDR1 gene and colchicine-resistant familial Mediterranean fever (FMF) patients. Total genomic DNA samples from 52 FMF patients of colchicine unresponsiveness were used for FMF (MEFV) and MDR1 genes profile analyses. Target genes were genotyped by multiplex PCR-based reverse-hybridization Strip Assay method. The preliminary current results showed increased T allele frequency (0.596) in colchicine unresponsiveness of FMF patients. The distributions of the CC, CT, and TT genotypes in colchicine nonresponder FMF patients were 17%, 46%, and 37%, respectively. Our results indicate that C3435T polymorphism in exon 26 of MDR1 gene is associated with colchicine resistance in nonresponder FMF patients during the common therapy protocol.

The CYP4502D6 *4 and *6 alleles are the molecular genetic markers for drug response: implications in colchicine non-responder FMF patients.

The cytochrome P450 2D6 (CYP2D6) is a cytochrome P450 enzyme involved in the oxidative biotransformation of the xenobiotics, carcinogens and various clinically important drugs. Patients are evaluated in three sub-groups of extensive (EM), intermediate (IM) and poor metabolizer (PM) phenotypes due to their drug-metabolising ability for the target CYP2D6 gene. Colchicine non-responsive FMF patients were prospectively genotyped for the major CYP2D6 alleles in the current study. Major CYP2D6 alleles of *1, *3, *4, *5, and *6 were genotyped for 30 responsive and 60 non-responsive FMF patients by multiplex PCR-based reverse-hybridization StripAssay and real-time PCR methods. DNA banks isolated from blood-EDTA were retrospectively used in the current patients and results were compared statistically. Increased CYP2D6 *4 and *6 allele frequencies were highly detected in the colchicine non-responsive FMF patients when compared to the responsive group. Results showed the frequencies of major CYP2D6 *1(wild), *3(2637A > delA), *4(G1934A), *5(total gene deletion) and *6(1707T del) alleles in 0.550, 0.042, 0.158, 0.025 and 0.225 for non-responder and 0.880 and 0.120 (CYP2D6*1 and *4) for the responder groups, respectively. Despite small sample size, this study suggests that there is an association between CYP2D6*4 and CYP2D6*6 alleles and drug intoxicants in colchicine non-responder FMF patients.

C-reactive protein gene and Toll-like receptor 4 gene polymorphisms can relate to the development of psoriatic arthritis.

We aimed to determine in psoriatic arthritis (PsA) patients the Toll-like receptor (TLR) 4 and C-reactive gene (CRP) polymorphisms and allele frequency and to investigate the relationship between clinical parameters and gene polymorphisms. We enrolled in this study 31 PsA and 41 healthy control subjects. PsA diagnosis was according to CASPAR criteria. Bath ankylosing spondylitis diseases activity index, Maastricht ankylosing spondylitis enthesitis score, and Bath ankylosing spondylitis functional index were measured. C, A, and T alleles of CRP and A and G alleles of TLR 4 were determined using the analysis of melting curves after real-time PCR. CRP A, C, and T allele frequency in controls was 26.8, 73.2, and 36.6%, respectively. In the PsA patient group, A, C, and T allele frequency was 9.7, 87.1, and 12.9%, respectively. Between control and PsA groups, there was a significant difference in A, C, and T allele frequency (P = 0.008, 0.038, and 0.001, respectively). The frequency of CRP gene polymorphisms (CA, AA, CT, TA, and TT alleles) in the control group was 56.1% and in the PsA group was 22.6%. There was a significant difference between the two groups (P = 0.004). The absence of a CRP gene polymorphism was a risk factor for PsA (odds ratio 4.3, 95% CI; 1.5-12.4, P = 0.005). TLR gene haploid frequency was investigated, and all control subjects had the wild-type AA allele. PsA patient GA allele frequency was 6.5%. There was no significant difference between the two groups (P = 0.182). GA mutant allele frequency was related to PsA (odds ratio 7.03, 95% CI; 0.32-151.9, P = 0.214). We have shown that CRP gene polymorphisms are higher in control subjects than PsA patients, and TLR 4 gene polymorphisms were found to be related to PsA.

Tumour necrosis factor alpha, interleukin 10 and interleukin 6 gene polymorphisms of ischemic stroke patients in south Marmara region of Turkey.

BACKGROUND: Stroke is an important cause of adult mortality and morbidity; however its pathogenesis is still unknown. Several studies have examined to determine the role of genetic polymorphism of proinflammatory cytokines in the occurence of stroke. The objective of this study was to evaluate the relationship between three polymorphisms; including tumour necrosis alpha (TNFα)-238 GA, interleukin( IL-10)-1028 GA (rs1800896), IL-6-(rs1800795) and ischemic stroke in a Turkish population. METHODS: Forty two stroke patients and 48 healhty controls were genotyped using PCR analysis for TNFα-238 G/A, IL-10-1028 GA and IL-6-rs1800795 AG polymorphisms. RESULTS: The frequency of the CC and CG, GG genotype of IL-6 gene (rs1800795) were statiscially significiantly higher in IS patients than controls (for C/C genotype, P=0.03, OR=4.3; 95% CI: 1.13 to 16.29 and for C/G genotype, P=0.04, OR=3.6; 95% CI: 1.03 to 12.95, for G/G genotype, P=0.02, OR=0.25; 95% CI: 0.07-0.85 respectively). CONCLUSION: Il-6 CC genotyped was found strongly associated with ischemic stroke than other two polymorpisms TNF-α and IL-10 in our population.

Multiple Inherited Thrombophilic Gene Polymorphisms in Spontaneous Abortions in Turkish Population.

The aim of this study was to investigate the possible role of multiple inherited thrombophilic gene variations in women with unexplained spontaneous abortions. For this purpose, the Factor V Leiden (FVL) (rs6025), Prothrombin G20210A (rs1799963), MTHFR C677T (rs1801133), PAI-1 4G/5G (rs1799889), ACE I/D (rs1799752), eNOS E298D (rs1799983), and Apo E E2/E3/E4 (rs429358) polymorphisms were genotyped and correlated in spontaneously aborted fetal materials, their mothers and fertile women. Twenty three abortion materials, 22 women with ≥1 unexplained fetal loss, and 22 control subjects with at least two healthy term infants as a control group were studied. Target SNPs for each gene were analyzed by real time-PCR technique after genomic DNA isolation from maternal blood-EDTA, control group blood-EDTA and spontaneously aborted fetal tissues. Some cases had a single thrombophilic polymorphism, but the rest of the patients and fetal materials had combined thrombophilic polymorphisms. The PAI-1 4G/5G+4G/4G (P= 0.0017), 4G/4G (P= 0.0253), eNOS 894GT+894TT (P=0.0011) genotypes and T allele (P=0.0185), Apo E E3/E4+E3/E2+E2/E4 (P<0.0001) genotypes, E2 (P<0.0001) and E4 (P<0.0001) alleles were higher in spontaneously aborted fetal materials when compared to their mothers and control group. The Factor V Leiden rs6025, Prothrombin G20210A, MTHFR C677T, ACE I/D genotypes were different for each group but not statistically significant due to relatively small size of the samples (P>0.05). Our results indicated that combined thrombophilic gene variations may be associated with increased risk for spontaneous abortions and results need to be confirmed by larger sample size.

Association of endothelial nitric oxide synthase Glu298Asp gene polymorphism in psoriasis cases with hypertension.

BACKGROUND AND OBJECTIVES: Psoriasis is a common autoimmune-mediated chronic, inflammatory skin disease. Although, the molecular mechanism is not completely understood, psoriasis is caused by genetic and non-genetic parameters. The current study aimed (1) to define genotype and allele frequency of endothelial nitric oxide synthase (eNOS Glu298Asp) gene polymorphism in hypertensive and/or non-hypertensive psoriatic patients (2) to investigate the possible relationship between the eNOS Glu298Asp polymorphism and the risk of hypertension among psoriatic patients in the Turkish population. DESIGN AND SETTINGS: This cross-sectional, case-control study was performed between March 2010 and November 2012 at the University hospital in Çanakkale, Turkey Patients and Methods: Gene profiles of 75 psoriatic patients (21 hypertensive and 54 normotensive pa.tients) and 55 healthy (normotensive and non-psoriatic) volunteers were compared. Peripheral blood-EDTA samples were used for total genomic DNA isolation and genotyping. Target eNOS gene was genotyped for patients and control groups by real-time PCR melting-curve analysis system (LightCycler 2.0,Roche, Germany, and results were compared statistically. RESULTS: An increased T allele frequency in eNOS Glu298Asp single-nucleotide polymorphism (SNP) was determined in psoriatic patients when compared with normotensive non-psoriatic healthy volunteers (OR 2.3, CI 1.14-3.99), (P=.017). The T allele frequency was also found to be increased in hypertensive psoriatic patients when compared with healthy volunteers (4.83-fold increased, 95% CI 1.62-14.43 ([P=.003]) and normotensive psoriatic patients (3.03-fold increased, 95% CI 1.03-8.94 [P=.041]), respectively. CONCLUSION: The current preliminary results suggested that there was a correlation between eNOS Glu298Asp polymorphism and hypertension among psoriatic patients in the Turkish population. The T allele frequency of eNOS Glu298Asp SNP was different in hypertensive psoriatic patients, and the difference was statistically significant when compared with the normotensive psoriatic patients and healthy controls. These results need to be confirmed by large-scale studies.

Relationship between response to colchicine treatment and MDR1 polymorphism in familial Mediterranean fever patients.

AIM: Investigate the relationship between MDR1 C3435T polymorphism and colchicine response in Familial Mediterranean fever (FMF) patients. MATERIALS AND METHODS: Patients (n=50) who received colchicine regularly, were willing to participate in the study, and attended control visits were included in the study. MDR1 C3435T genotype was defined by the real-time polymerase chain reaction method. Patients were divided into three groups. Patients, who recovered from episodes with standard colchicine treatment, and had no attack in the last 1 year were accepted as complete; patients whose episode number and intensity were decreased with the ongoing standard treatment as partial; and patients whose episodes were not decreased despite the standard treatment as nonresponders. RESULTS: MDR1 C and T allele frequencies of FMF patients with colchicine responses of complete, partial, and nonresponders were C=0.75 and T=0.25; C=0.56 and T=0.44; and C=0.50 and T=0.50, respectively. When complete responding patients were compared with the partial responding patients, subjects with CT genotype had 6.18 times more increased risk than with CC genotype (OR=6.18; p=0.015). Poor response risk of subjects with the T allele was increased 2.45 times more when compared with the C allele (p=0.03). CONCLUSION: MDR1 gene C3435T polymorphism enacts an important role on colchicine response in FMF; good response to colchicine treatment was related to the C allele, whereas poor response was related to the T allele in FMF.

Fetal Vegf Genotype is More Important for Abortion Risk than Mother Genotype.

VEGF gene has been reported to be related with many diseases and recurrent pregnancy loss in various studies. Concerning the role of VEGF polymorphisms in pregnancy losses, generally mothers genotypes have been analyzed. To evaluate the association between VEGF A +405G/C (rs2010963), -460T/C (rs833061), +936C/T (rs3025039) and - 2578A/C (rs699947) polymorphisms and spontaneous abortion, we studied the genotypes of spontaneously aborted fetuses, their mothers and healthy controls. 23 spontaneously aborted fetal materials, 22 mothers who had these abortions and 86 healthy controls were included in this study. rs2010963, rs833061, rs3025039 and rs699947 polymorphisms were analyzed by Real Time PCR technique after genomic DNA isolation from all subjects. The frequencies of VEGF A rs2010963 GG genotype and rs2010963 G allele were higher in fetuses compared both with mothers and healthy controls. VEGF A rs3025039 TT genotype and rs3025039 T allele frequencies were higher in fetuses comparing with mothers. VEGF A rs833061 CT and TT genotypes frequencies were higher in fetuses comparing with mothers. We ascertained that VEGF A rs2010963, rs833061 and rs3025039 are the risk factors for spontaneous abortion in fetal genotypes comparing with their mothers and healthy controls.

Germ-line MTHFR C677T, FV H1299R and PAI-1 5G/4G variations in breast carcinoma.

BACKGROUND: Various oncogenes related to cancer have been extensively studied and several polymorphisms have been found to be associated with breast cancer. The current report outlines analysis of germ-line polymorphisms for C677T, A1298C (MTHFR), Leiden, R2 (FV) and 5G/4G (PAI-1) in Turkish breast cancer patients. We studied 51 cases diagnosed with invasive ductal and operable with lymph node-positive breast cancer and 106 women as a control group. MATERIALS AND METHODS: Peripheric blood-DNA samples were used for genotyping by StripAssay technique which is based on the reverse-hybridization principle and real-time PCR methods and results were compared statistically. RESULTS: The frequency of the MTHFR gene 677T and 1298A alleles were significantly higher in cancer patients than in the healthy subjects. The T allele frequency in codon 677 was 2.3-fold and C allele frequency was 3.1-fold increased in BC when compared to the control group for the MTHFR gene. Both differences were statistically significant (OR: 2.295, CI: 1.283-4.106), p<0.006 and (OR: 3.131, CI:1.826-5.369), p<0.0001 respectively. The R2 allele frequency of FV gene was 5.1-fold increased in the current BC when compared to the control group and that difference was also statistically significant (OR: 5.133, CI: 1.299-20.28), p<0.02. CONCLUSIONS: The present data suggest that germ-line polymorphisms of C677T, C1298A for MTHFR and R2 for FV are associated in breast cancer and may be additional prognostic markers related to breast cancer survival. The results now need to be confirmed in a larger group of patients.

Possible roles of the xenobiotic transporter P-glycoproteins encoded by the MDR1 3435 C>T gene polymorphism in differentiated thyroid cancers.

BACKGROUND: P-glycoprotein (Pgp), encoded by the multidrug resistance 1 (MDR1) gene, is an efflux transporter which plays an important role in pharmacokinetics. The current preliminary study was designed to determine associations between a germ-line polymorphism in the MDR1 gene with differentiated thyroid carcinoma (DTC). MATERIALS AND METHODS: In the current case-control study, 60 differentiated thyroid cancers (DTC)- 45 papillary TC (PTC), 9 follicular TC(FTC) and 6 well-differentiated tumors of uncertain malignant potential (WDT-UMP) were examined. Results were compared to a healthy control group (n=58) from the same population. Genomic DNA was extracted from peripheral blood with EDTA and the target gene was genotyped by real-time PCR. RESULTS: Carriers of the variant allele of MDR1 exon 26 polymorphism were at 2.8-fold higher risk of DTC than the control group (odds ratio [OR]: 0.3805, 95% confidence interval [Cl]: 0.1597-0.9065 (p> 0.046). CONCLUSIONS: Presented results suggest that the MDR1 3435TT genotype might influence risk of development of DTC and that the CC genotype might be linked to a poor prognosis. Large-scale studies are now needed to validate this association.

Single-nucleotide polymorphism in Turkish patients with adolescent idiopathic scoliosis: curve progression is not related with MATN-1, LCT C/T-13910, and VDR BsmI.

The role of genetics in the etiopathogenesis of adolescent idiopathic scoliosis (AIS) is unclear. In this study, we investigated the relationship between AIS and polymorphisms in MATN-1, LCT C/T-13910, and VDR BsmI genes. 53 Turkish adolescents with diagnosed AIS and 54 healthy adult individuals were included in the study. MATN-1, LCT C/T-13910, and VDR BsmI gene mutations were analyzed with real-time PCR. We did not detect a statistically significant difference between AIS and control groups in respect to those three different gene polymorphisms (p < 0.05). We next evaluated the associations of all three SNPs with scoliosis curve severity. There was no significant difference between curve severity and gene polymorphisms (p < 0.05). In terms of gene polymorphisms, AIS patients with a family history of AIS did not significantly differ from AIS patients who did not have history (p < 0.05). AIS might be caused by many different gene mutations, biomechanical mechanisms that have been modified by environmental factors, different biological interactions, modulation of growth, or a synergy of different factors causing abnormal control of growth. However, the existing knowledge is still not enough to explain the etiopathogenesis of AIS.

Increased T-allele frequency of 677 C>T polymorphism in the methylenetetrahydrofolate reductase gene in differentiated thyroid carcinoma.

BACKGROUND: Epigenetic alterations in the global DNA methylation status may be associated with an increased risk of some cancer types in humans. The methylenetetrahydrofolate reductase (MTHFR) gene is involved in folic acid metabolism and plays an essential role in inherited DNA methylation profiles. The common 677 C>T and 1298 A>C polymorphisms in the MTHFR gene cause the production of a thermolabile enzyme with reduced function and, eventually, genomic DNA hypomethylation. The current preliminary study was designed to determine the association between germ-line polymorphism in the MTHFR gene and differentiated thyroid carcinoma (DTC). METHODS: In the current case-control study of 60 thyroid carcinomas (TC); 45 papillary TC, 9 follicular TC, and 6 DTC of an uncertain malignant potential were examined. Genomic DNA was extracted from peripheral blood with EDTA, genotyped by a multiplex real-time polymerase chain reaction. RESULTS: An elevated 2.33-fold risk was observed for DTC in individuals with the 677TT genotype when compared with the control group (odds ratio [OR]: 1.92, 95% confidence interval [CI]: 1.03-3.58). Current DTC patients showed similar results as a control group for the 1298 A>C allele. No significant risk was detected for the homozygous 1298CC genotype (CC vs. AA or AC) (OR: 1.30, 95% CI: 0.73-2.29). CONCLUSION: The current results are supportive of the hypothesis that the homozygous MTHFR 677TT genotype increases the risk factor of developing thyroid cancer, and further large-scale studies are needed to validate this association.

Combined effect of Factor V Leiden, MTHFR, and angiotensin-converting enzyme (insertion/deletion) gene mutations in hypertensive adult individuals: a population-based study from Sivas and Canakkale, Turkey.

BACKGROUND: Hypertension is one of the leading causes of mortality and morbidity in the world, which is influenced by environmental and genetic factors. The methylenetetrahydrofolate reductase (MTHFR) and angiotensin-converting enzymes (ACE) are possible candidate genes that may influence both body fatness and blood pressure (BP). The purpose of this study was to examine the carriage of gene combinations of the ACE (insertion/deletion [I/D]), MTHFR 677T and 1298C, and lipid profiles in patients with essential hypertension (EH) in Turkey. METHODS: A total of 150 adult individuals (50 hypertensive, 50 first-degree relatives, and 50 healthy controls) from Sivas/Turkey with the same age and gender were assessed for body composition, lipid profiles, resting BP, and gene profiles. Additionally, 149 individuals (99 hypertensive, 50 controls) from Canakkale/Turkey had been investigated for ACE I/D polymorphism. Peripheral blood samples were genotyped using strip assay reverse-hybridization multiplex polymerase chain reaction tests for target genes. RESULTS: Heterozygous mutation in FV Leiden was found to be higher in the hypertensive and first-degree relatives when compared with the control group (p<0.05). Homozygous DD alleles of the ACE gene were also higher than the ACE I/D and control groups (p<0.05). The high rates of cholesterol and low-density lipoprotein and low rates of high-density lipoprotein were found in patients with EH when compared with the control. CONCLUSION: Results show that ACE with DD alleles and mutated alleles of FV Leiden and MTHFR genes were significantly different between genotypes and have a combined effect on EH in Turkish population. Further studies are needed to investigate the genetics of obesity, EH, and BP phenotypes in the current adult population.