Working memory gating in obesity: Insights from a case-control fMRI study.

Computational models and neurophysiological data propose that a 'gating mechanism' coordinates distractor-resistant maintenance and flexible updating of working memory contents: While maintenance of information is mainly implemented in the prefrontal cortex, updating of information is signaled by phasic increases in dopamine in the striatum. Previous literature demonstrates structural and functional alterations in these brain areas, as well as differential dopamine transmission among individuals with obesity, suggesting potential impairments in these processes. To test this hypothesis, we conducted an observational case-control fMRI study, dividing participants into groups with and without obesity based on their BMI. We probed maintenance and updating of working memory contents using a modified delayed match to sample task and investigated the effects of SNPs related to the dopaminergic system. While the task elicited the anticipated brain responses, our findings revealed no evidence for group differences in these two processes, neither at the neural level nor behaviorally. However, depending on Taq1A genotype, which affects dopamine receptor density in the striatum, participants with obesity performed worse on the task. In conclusion, this study does not support the existence of overall obesity-related differences in working memory gating. Instead, we propose that potentially subtle alterations may manifest specifically in individuals with a 'vulnerable' genotype.

Investigating Vitamin D Receptor Genetic Markers in a Cluster Headache Meta-Analysis.

Patients diagnosed with the primary headache disorder known as cluster headache (CH) commonly report that their headache attacks occur in patterns of both circadian and seasonal rhythmicity. Vitamin D is essential for a variety of bodily functions and vitamin D levels are largely regulated by daylight exposure in connection with seasonal variation. For this Sweden-based study, the association between CH and three single-nucleotide polymorphisms in the vitamin D receptor gene, rs2228570, rs1544410, and rs731236, were investigated, as well as CH bouts and trigger factors in relation to seasonal and weather changes. Over 600 study participants with CH and 600 controls were genotyped for rs2228570, and genotyping results for rs1544410 and rs731236 were obtained from a previous genome-wide association study. The genotyping results were combined in a meta-analysis, with data from a Greek study. No significant association was found between rs2228570 and CH or the CH subtype in Sweden, nor did the meta-analysis show significant results for any of the three markers. The most common period of the year to experience CH bouts in Sweden was autumn, and conditions linked to weather or weather changes were also identified as potential triggers for CH bouts for a quarter of the responders who reported bout triggers. Though we cannot rule out vitamin D involvement in CH, this study does not indicate any connection between CH and the three vitamin D receptor gene markers.

Interaction between CETP Taq1B polymorphism and HEI, DQI and DPI on metabolic biomarkers in patients with type 2 diabetes.

BACKGROUND: Type 2 diabetes mellitus (T2DM) is a multidimensional consequence of environmental and genetic factors. Cholesteryl ester transfer protein (CETP) Taq1B polymorphism has been reported as a main predictor of dyslipidaemia, comprising an important complication in persons with T2DM. However, diet could affect T2DM patients metabolic health. METHODS: We investigated the combination of gene-diet effects on some metabolic biomarkers. In our cross-sectional study, blood samples of 220 patients were collected. Dietary indices (healthy eating index, dietary quality index and dietary phytochemical index) were obtained from a validated semi-quantitative food frequency questionnaire. CETP Taq1B polymorphism was genotyped by a polymerase chain reaction-restriction fragment polymorphism method. Data were analysed by analysis of covariance. RESULTS: The interaction between the CETP Taq1B polymorphism and dietary indices on low density lipoprotein/high density lipoprotein was significant (p < 0.001 both crude and adjusted models). In addition, the interaction between polymorphism and dietary quality index on total antioxidant capacity (p = 0.004 crude model, p = 0.005 after adjusting) and pentraxin 3 (p = 0.01 both crude and adjusted models) was significant. Also, the interaction between polymorphism and healthy eating index on waist circumference (p = 0.005 both crude and adjusted models) and dietary phytochemical index on interleukin-18 (p = 0.03 crude model) was significant. CONCLUSIONS: Our results indicated the effect of CETP Taq1B polymorphism on some inflammatory and anthropometrics markers (total antioxidant capacity, pentraxin 3, interleukin-18, low density lipoprotein/high density lipoprotein and waist circumference) with high and low adherence to dietary incides.

Study of vitamin D receptor gene polymorphisms in a cohort of myocardial infarction patients with coronary artery disease.

BACKGROUND: Vitamin D deficiency is associated with cardiovascular diseases, including coronary artery diseases (CAD). As vitamin D manifests its biological function through its vitamin D receptor (VDR), VDR gene polymorphisms potentially affect VDR functionality and vitamin D activity. Therefore, the objective of this study was to analyze three well-studied VDR gene polymorphisms-Fok1 (rs2228570), BsmI (rs1544410) and Taq1 (rs731236)-in a cohort of CAD patients after acute myocardial infarction. METHODS: In the presented cross-sectional study, 155 participants with CAD after acute myocardial infarction and 104 participants in a control group without CAD were enrolled. The participants in both groups were Caucasians of European origin. The genotyping of VDR polymorphisms rs2228570, rs1544410 and rs731236 was assessed by RT-PCR. RESULTS: The results show an association between the T/T genotype of the BsmI (rs1544410) and the G/G genotype of the Taq1 (rs731236) VDR polymorphism and CAD patients after acute myocardial infarction. There was no association between the Fok1 (rs2228570) VDR polymorphism and CAD patients after acute myocardial infarction. CONCLUSION: The presented results suggest a potential association of the BsmI (rs1544410) and Taq1 (rs731236) VDR polymorphisms with CAD patients after myocardial infarction.

Significant association between Taq1 gene polymorphism in vitamin D receptor and chronic spontaneous urticaria in the Northeast of Iran.

OBJECTIVE: Chronic spontaneous urticaria (CSU) is defined as urticaria with an unknown etiology which persists for more than 6 weeks. CSU is an uncomfortable cutaneous condition that occurs due to an immune-mediated inflammatory reaction. Many studies have demonstrated that vitamin D deficiency and single-nucleotide polymorphisms in the vitamin D receptor (VDR) impact the immune response. In the current study, the frequency of the Taq1 polymorphism in the VDR gene were compared between patients with CSU and individuals without CSU. METHODS: In a case-control study, a group of CSU patients (n = 100) was compared with a group of healthy age- and gender-matched individuals as a control group (n =100) who visited our center between 2015 and 2017. After DNA extraction from EDTA-containing blood, polymerase chain reaction (PCR-RFLP) was used to determine the presence of the Taq1 polymorphism. Serum vitamin D levels were measured using ELISA method (Abcam, Cambridge, USA). RESULTS: Genotyping for Taq1 polymorphism showed that TT, Tt and tt genes frequency in the CSU group were 36%, 54%, and 10% respectively. The TT, Tt and tt genotypes had a distribution of 50%, 47% and 3% respectively in the control group. The mean serum vitamin D level in the CSU group was 19.88 ± 8.14 ng/ml, which was not significantly correlated with the Taq1 polymorphism (P = 0.841). There was a significant relationship between Taq1 gene polymorphism (tt genotype) and CSU (P = 0.038). Tt genotype increased the risk of CSU (odds ratio = 1.596), and inheritance of tt genotype increased the risk even further (odds ratio = 4.630). CONCLUSION: The frequency of Taq1 genotype polymorphism in the VDR gene was significantly higher in patients with CSU compared to the control group. The tt genotype polymorphism may be a risk factor for CSU.

Genetic risk factors for lumbar disc disease.

AIM AND BACKGROUND: Lumbar disc degeneration (LDD) is thought to be multifactorial in origin. Very recently the focus has shifted to the involvement of a family of candidate genes in the pathogenesis of LDD. There is particular emphasis on the vitamin D receptor gene (VDR gene). The VDR polymorphisms FOK1, TAQ1, and APO1 have been variably associated with LDD. OBJECTIVE: To evaluate the association between the FOK1/Taq1 genes and LDD. MATERIALS AND METHODS: One hundred unrelated healthy (asymptomatic) individuals who presented for routine health checkup and 93 consecutive patients (43 males and 50 females) with no history of low back pain were enrolled in the study after informed consent was obtained. The MRI images of cases and controls were graded and peripheral blood samples were collected from all participants and sent for genetic analysis. RESULTS: Individuals with the dominant genotype for Taq1 had a significantly higher association with LDD than those without it. There was no association between LDD and the Fok1 genotype. CONCLUSION: Genetic predisposition is an important risk factor for LDD.

Vitamin D Receptor Polymorphisms and Cancer.

Increasing scientific evidence supports the link between vitamin D and cancer risk. The active metabolite 1,25(OH)2D exerts its activity by binding to the vitamin D receptor (VDR), an intracellular receptor that mediates transcriptional activation and repression of target genes. The binding of 1,25(OH)2D to VDR is able to regulate hundreds of different genes. VDR is active in virtually all tissues including the colon, breast, lung, ovary, bone, kidney, parathyroid gland, pancreatic b-cells, monocytes, T lymphocytes, melanocytes, keratinocytes, and also cancer cells.The relevance of VDR gene restriction fragment length polymorphisms for various types of cancer has been investigated by a great number of studies.We have carried out a systematic review of the literature to analyze the relevance of more VDR polymorphisms (Fok1, Bsm1, Taq1, Apa1, and Cdx2) for individual malignancies considering ethnicity as a key factor for heterogeneity.Up to December 2018, we identified 176 independent studies with data to assess the risk of breast, prostate, colorectal, skin (melanoma and non-melanoma skin cancer), lung, ovarian, kidney, bladder, gallbladder, esophageal, thyroid, head and neck, liver and pancreatic cancer, oral squamous cell carcinoma, non-Hodgkin lymphoma, multiple myeloma and sarcoma.Significant associations with VDR polymorphisms have been reported for prostate (Fok1, Bsm1, Taq1, Apa1, Cdx2), breast (Fok1, Bsm1, Taq1, Apa1, CdX2), colorectal (Fok1, Bsm1, Taq1, Apa1), and skin cancer (Fok1, Bsm1, Taq1). Very few studies reported risk estimates for the other cancer sites.Conflicting data have been reported for most malignancies, and at present, it is still not possible to make any definitive statements about the importance of the VDR genotype for cancer risk. It seems probable that other factors such as ethnicity, phenotype, 25(OH)D plasma levels, and UV radiation exposure play a role as confounding factors and introduce heterogeneity.To conclude, there is some indication that VDR polymorphisms may modulate the risk of some cancer sites and in future studies VDR genetic variation should be integrated also with assessment of vitamin D status and stratified by ethnicity.

Physical inactivity and excessive sucrose consumption are associated with higher serum lipids in subjects with Taq1B CETP polymorphism.

BACKGROUND: Dyslipidaemias result from the interaction between genetic and environmental factors, including diet disequilibrium and physical inactivity. Among the genetic factors associated with serum lipids, the Taq1B CETP polymorphism has been investigated. The B1 allele has been considered as a risk factor for dyslipidaemia because of its association with greater CETP levels and higher serum triglycerides. The present study aimed to determine the role of the Taq1B polymorphism with lipid and anthropometric variables and its interaction with diet and physical activity. METHODS: In total, 215 subjects were enrolled in this cross-sectional study. Diet intake was evaluated using a 3-day food consumption record and physical activity was determined in accordance with World Health Organization recommendations. The Taq1B CETP polymorphism was determined by allelic discrimination. RESULTS: Subjects with the B1B2/B2B2 genotype, who had a sucrose consumption ≥5% of the total kcal day-1 , had higher levels of total cholesterol (TC) [165.55 (142.21-188.89) mg dL-1 versus 200.19 (184.79-215.60) mg dL-1 ; P for interaction = 0.034] and low-density lipoprotein [99.29 (75.52-123.05) mg dL-1 versus 128.64 (113.59-143.69) mg dL-1 ; P for interaction = 0.037] than subjects with the B1B1 genotype. Subjects who did not perform physical activity and had the B1B2/B2B2 genotype showed significantly higher levels of TC [177.48 (161.36-193.60) mg dL-1 versus 194.49 (185.43-203.56) mg mL-1 ; P for interaction = 0.033] than subjects with the B1B1 genotype. CONCLUSIONS: We provide evidence that subjects with inadequate environmental factors carriers of the polymorphic genotype had higher serum lipid levels than subjects with the B1B1 genotype.

Interaction between endothelial nitric oxide synthase rs1799983, cholesteryl ester-transfer protein rs708272 and angiopoietin-like protein 8 rs2278426 gene variants highly elevates the risk of type 2 diabetes mellitus and cardiovascular disease.

BACKGROUND: The aim of the present study was to examine the association of angiopoietin-like proteins-8 (ANGPTL8) rs2278426, cholesteryl ester-transfer protein (CETP) rs708272 and endothelial nitric oxide synthase (NOS3) rs1799983 variants with type 2 diabetes mellitus (T2DM) and cardiovascular disease (CVD), and to investigate the effect of the potential interaction between these variants on disease risk. METHODS: Our study included 272 subjects classified into 68 patients with T2DM, 68 patients with T2DM complicated with CVD and 136 control subjects. ANGPTL8 c194C>T, CETP Taq1B and NOS3 G894T polymorphisms were genotyped using TaqMan® SNP Genotyping Assay. RESULTS: The presence of NOS3, ANGPTL8, and homozygous CETP B1 variants were associated with increased risk of T2DM by 3.07-, 2.33- and 1.75-fold, respectively. NOS3 variant was associated with 3.08-fold increased risk of CVD (95% CI 1.70-5.60), while ANGPTL8 C allele was associated with 2.8-fold increased risk of CVD in T2DM patients (95% CI 1.13-6.97). Concomitant presence of both, CETP B1 and NOS3 T allele, associated with increased risk of T2DM, CVD and CVD in T2DM by 8.36-, 6.33- and 7.87-fold, respectively, while concomitant presence of ANGPTL8 variant with either CETP B1 or NOS3 T allele was not associated with increased risk of T2DM or CVD. However, concomitant presence of the three variants together elevated the risk of T2DM by 13.22-fold (p = 0.004), CVD risk by 8.86-fold (p = 0.03) and highly elevated the risk of CVD in T2DM patients by 13.8-fold (p = 0.008). CONCLUSIONS: Concomitant presence of CETP B1, NOS3 T and ANGPTL8 T alleles augments the risk of CVD and T2DM. Further studies to clarify the mechanism of gene-gene interaction in the pathogenesis of CVD and T2DM are needed.

Vitamin D receptor gene polymorphisms (Apa1 and Taq1) in temporomandibular joint internal derangement/osteoarthritis in a group of Turkish patients.

Genetic variations might play a role in susceptibility to temporomandibular joint internal derangement (TMJ-ID) and osteoarthritis of the joint (TMJOA). Vitamin D receptor (VDR) polymorphisms have been shown to be associated with disc degeneration-linked pathologies, particularly osteoarthritis (OA). The aim of this study was to evaluate whether VDR polymorphisms present susceptibility to TMJ-ID/TMJOA. The study included 49 unrelated TMJ-ID patients with OA (31.7 ± 7.9) that were grouped and evaluated as having anterior disk displacement with reduction (ADDwR, n = 24) (31.58 ± 8.25) and without reduction (ADDwoR, n = 25) (31.8 ± 7.53) and 70 healthy controls (28.22 ± 5.9). DNA was extracted from blood samples using the standard proteinase K/phenol-chloroform method. Apa1 and Taq1 polymorphisms were investigated using a polymerase chain reaction-based restriction fragment length polymorphism assay. When TMJ-ID patients, ADDwR cases and ADDwoR cases versus healthy controls were compared, Apa1 Aa genotype compared to AA genotype had odds ratios of 1.65, 1.79 and 1.64 respectively (p > 0.05). In TMJ-ID women versus healthy women Aa genotype had 2.06 fold (p = 0.15) odds compared to AA genotype. Taq1 results showed that in TMJ-ID patients and ADDwoR cases the Tt genotype had odds ratios of 0.63 and 0.44 fold (p > 0.05) respectively. In TMJ-ID women the Tt and tt genotypes had odds ratios of 0.53 and 0.73 (p > 0.05). Combined VDR genotypes revealed that AATT had a 3.3 fold (p = 1.21) odds ratio while AATt had a 2.0 fold odds ratio (p = 0.29) (OR 0.59, 95% CI 0.23-1.49, p = 0.26) compared to AaTt. Although our results do not confirm susceptibility of VDR polymorphisms to TMJ-ID/TMJOA ,this relation needs to be further evaluated in a large cohort study.

The dopamine D2 receptor mediates approach-avoidance tendencies in smokers.

Dopamine D2 receptors (DRD2) have been strongly implicated in reward processing of natural stimuli and drugs. Using the approach-avoidance task (AAT), we recently demonstrated that smokers show an increased approach-bias toward smoking-related cues but not toward naturally rewarding stimuli. Here, we examined the contribution of the DRD2 Taq1B polymorphism to smokers' and non-smokers' responsivity toward smoking versus naturally rewarding stimuli in the AAT. Smokers carrying the minor B1 allele of the DRD2 Taq1B polymorphism showed reduced approach behavior for food-related pictures compared to non-smokers with the same allele. In the group of smokers, a higher approach-bias toward smoking-related compared to food-related pictures was found in carriers of the B1 allele. This pattern was not evident in smokers homozygous for the B2 allele. In addition, smokers with the B1 allele reported fewer attempts to quit smoking relative to smokers homozygous for the B2 allele. This is the first study demonstrating that behavioral shifts in response to smoking relative to natural rewards in smokers are mediated by the DRD2 Taq1B polymorphism. Our results indicate a reduced natural-reward brain reactivity in smokers with a genetically determined decrease in dopaminergic activity (i.e., reduction of DRD2 availability). It remains to be determined whether this pattern might be related to a different outcome after psychological cessation interventions, i.e., AAT modification paradigms, in smokers.

NRAMP1 and VDR gene polymorphisms in susceptibility to pulmonary tuberculosis among Andhra Pradesh population in India: a case-control study.

BACKGROUND: The aim of the present study was to evaluate the association of NRAMP1 -3'UTR, 274-CT,VDR- Fok1 VDR-Taq1 Polymorphisms with the risk of pulmonary tuberculosis. METHOD: A case -control study was conducted on Andhra Pradesh Population of India. Analysis of gene polymorphisms of NRAMP1 gene (3'UTR, 274CT) and VDR gene (Fok1 and Taq1) was done by using Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in Tuberculosis (TB) patients and healthy controls. The obtained results were observed using 2% Agarose Gel electrophoresis and analysed statistically using Chi-square test and Odds Ratio. RESULTS: Statistical significance was observed between the patients and the controls in the NRAMP1-3'UTR (P = 0.005; OR = 2.997; 95% CI = 1.019-8.813) and VDR-Taq1 (P < 0.001; OR = 0.140;95% C.I = 0.050-0.386) polymorphisms in Andhra Pradesh population. No statistical significance was observed between patients and controls of the same population in NRAMP1-274CT and VDR-Fok1 polymorphisms (p > 0.05). CONCLUSION: 3'UTR-NRAMP1 gene and VDR-Taq1 gene Polymorphisms are statistically associated with the susceptibility of TB in Andhra Pradesh Population in India.

Additive Antiatherogenic Effects of CETP rs708272 on Serum LDL Subfraction Levels in Patients with CHD Under Statin Therapy.

Recently, subfraction analysis of serum low density lipoprotein (LDL) is considered to be a better predictor of the risk of coronary heart disease (CHD) compared to the other lipid parameters. The aim of this study was to examine the effects of the HDL-associated Taq1B (rs708272) SNP of cholesterol ester transfer protein (CETP) gene on serum LDL subfractions in patients with CHD. Serum lipid levels were measured enzymatically and LDL subfraction analysis was carried out by the Lipoprint System (Quantimetrix, CA, USA). The CETP rs708272 SNP was studied in 66 healthy controls and 79 patients with CHD receiving statin therapy by the PCR-RFLP technique. The CHD patients had elevated antiatherogenic LDL-1 subfraction (p = 0.042), decreased atherogenic IDL-C subfraction (p = 0.023), and total IDL (p = 0.030) levels compared to the healthy controls. The CETP rs708272 Taq1B minor B2 allele was associated with increased levels of antiatherogenic LDL-1 (B2: 0.40 ± 0.20 vs. B1B1: 0.25 ± 0.08, p = 0.004) and large-LDL (LDL 1-2) subfractions in the CHD group (B2 allele: 0.68 ± 0.41 vs. B1B1: 0.42 ± 0.20; p < 0.05), while it was associated with reduced levels of the large-LDL subfraction in healthy subjects (B2 allele: 0.29 ± 0.14 vs. B1B1: 0.54 ± 0.24; p = 0.017). However, there was no statistically significant association between the CETP rs708272 SNP and small dense LDL subfraction (LDL 3-7) and lipoprotein levels (p > 0.05). Our findings have indicated that the CETP rs708272 SNP together with statin therapy may show a favorable effect on antiatherogenic LDL-1 and large-LDL subfractions in CHD patients with an atherogenic effect on large-LDL subfraction in healthy subjects. Based on these results, it can be concluded that the effects of the CETP variation on LDL subfraction could change in cardiometabolic events such as CHD and statin therapy.

Dopamine DRD2 polymorphism (DRD2/ANNK1-Taq1A) is not a significant risk factor in writer's cramp.

Writers' cramp is a movement disorder with dystonic co-contraction of fingers and hand during writing and is part of the clinical spectrum of focal dystonias. Previous studies showed reduced striatal dopamine receptor D2 (DRD2) availability in dystonia. The expression of D2 receptors is modulated by a DRD2/ANKK1-Taq1A polymorphism (rs1800497). This study addresses the question of whether the DRD2/ANKK1-Taq1A polymorphism is a risk factor for writer's cramp. We determined the DRD2/ANKK1-Taq1A polymorphism 34 patients with writer's cramp compared to 67 age matched controls. 35.3% of the patients and 31.3% of our controls were assigned to the A1 genotype status (p = .7). Therefore DRD2/ANKK1-Taq1A gene is not a significant risk factor in the evolution of writer's cramp.

Taq1B Polymorphism of Cholesteryl Ester Transfer Protein (CETP) and Its Effects on the Serum Lipid Levels in Metabolic Syndrome Patients.

The metabolic syndrome (MetS) is one of the most important risk factors for type 2 diabetes and cardiovascular disease. This syndrome is characterized by abdominal obesity, hypertension, insulin resistance, and dyslipidemia. The plasma origin of Cholesteryl ester transfer protein (CETP) is responsible for transferring cholesterol esters from high-density lipoprotein particles to apolipoprotein B containing lipoproteins compartment. We conducted this study to investigate the association between CETP gene Taq1B (rs708272) polymorphism in the metabolic syndrome among Iranian subjects. A sample size of 200 patients diagnosed with MetS together with 200 healthy donors as control were enrolled in this study. The investigation of polymorphism was performed by the use of polymerase chain reaction and restriction fragment length polymorphism analysis. To determine the relationship between polymorphism and lipid profile, we measured lipids and CETP concentration in metabolic syndrome and control subjects. Genotype distribution and allelic frequencies of polymorphism were determined and compared in both groups. Our findings showed that all clinical and biochemical characteristics in patients differed from the control group. The results showed that genotype and allele frequency of the Taq1B polymorphism was not significantly different between two groups. Instinctively, CETP was significantly higher in metabolic syndrome (1.64 ± 0.32 µg/ml) than in control (1.53 ± 0.34 µg/ml). A low level of CETP was found in blood of B2B2 typified genotype. In spite of Taq1B polymorphism on ester transfer protein concentration, no direct correlation was found between this polymorphism and metabolic syndrome.

Influence of Apa1 (rs7975232), Taq1 (rs731236) and Bsm1 (rs154410) polymorphisms of vitamin D receptor on preterm birth risk in the Polish population.

OBJECTIVES: Vitamin D receptor (VDR) is expressed in the placenta and tissues related to the immune system occurrence of various variants of VDR may modify the effects of vitamin D on pregnancy. The aim of this study was to evaluate the association between the parturients' Apa1, Taq1, and Bsm1 polymorphisms of the VDR and their combinations and the risk of preterm birth in the Polish population. MATERIAL AND METHODS: Determination of polymorphism for VDR was assayed using the RT-PCR method. 199 Caucasian women at childbirth were qualified:100 patients who had a spontaneous preterm birth and 99 patients who had a term birth. RESULTS: Three separate genotypes of the Apa1, Taq1, and Bsm1 polymorphisms were detected. No significant differences in the frequency of particular genotypes in the compared groups were found. Some of the genotype combinations were significantly more frequent in the preterm group - the bb/AA/TT genotype (28.0% vs. 10.1%; p = 0.0013) and the BB/aa/tt genotype (14.0% vs. 4.04% p = 0.0277). The Bb/AA/Tt and the BB/Aa/tt genotypes were found only in the control group (16.1% and 7.0% of patients, respectively). The bb/aa/TT was significantly more frequent in the control group (2.0% vs. 11.1%; p = 0,0207). Two genotype combinations reduced the risk of preterm birth - the Bb/AA/Tt genotype by 94% (OR = 0.43, 95% CI: 0.002-0.885, p = 0.041) and the BB/Aa/tt genotype by 98% (OR = 0.029, 95% CI: 0.001-0.838, p = 0.039). CONCLUSIONS: Our result suggests that there may be a relationship between certain VDR genotype combinations and the risk of preterm birth. Further research is needed in order to substantiate this finding.

Ventromedial prefrontal cortex response to concentrated sucrose reflects liking rather than sweet quality coding.

The perception of the pleasantness of sweet tastes varies widely across individuals. Here, we exploit these differences to isolate brain response to sweet-taste pleasantness while controlling for intensity, quality, and physiological significance. Thirty subjects participated in functional MRI scanning while consuming individually calibrated weak and strong sucrose solutions. All subjects found the weak sweet taste to be neutral in pleasantness, but half of the subjects found strong sweet taste pleasant (likers), whereas half found strong sweet taste unpleasant (dislikers). Greater response was observed in the ventromedial prefrontal cortex (vmPFC) to the sucrose when it was rated pleasant versus neutral compared with unpleasant versus neutral. This suggests that response in the vmPFC underlies sweet-taste preference, this region is preferentially sensitive to affectively positive tastes, and it is the positive value rather than physiological significance, quality, or intensity that drives responses here. Likers versus dislikers did not differ in their diet, alcohol use, body weight, gender, or taq1A allele status, but likers were more likely to report emotional eating. None of these factors influenced response in the vmPFC.

Vitamin D receptor gene variations and their haplotypic association: Possible impact on gastric cancer risk.

Background: Vitamin D receptor (VDR) gene alterations have been associated with the occurrence and prognosis of various types of cancers, but only few studies have focussed on gastric cancer (GC) risk. Objectives: This case-control study was conceived to evaluate possible association of VDR polymorphisms (Fok1, Taq1, and Cdx2) with GC risk. Materials and Methods: A total of 293 subjects, including 143 GC patients and 150 controls were included in this study. The genotypes were elucidated by polymerase chain reaction-restriction fragment length polymorphism followed by DNA sequencing. Results: The frequency of Fok1 genotypes (TC and TT) was found higher in GC cases compared to controls (P ≤ 0.05). In the stratified analysis, we observed a significant association of the (CT + TT) variant with GC risk in males, rural dwellers, smokers, and preobese cases, and those having no family history of Gastrointestinal cancer (P ≤ 0.05). In silico analysis predicted that the Fok1 variant impacts the stability and functional efficiency of the protein. Some exact haplotypes (CCG and CCA) of the VDR gene may act as low penetrance alleles in inclination to GC. Conclusion: VDR Fok1 polymorphism is significantly associated with GC risk in the Kashmiri population. Specific haplotypes in the VDR gene could act synergistically in the development of GC.

The Taq 1 polymorphism of Vitamin D receptor gene is associated with oral cancer and preoral cancer in North Indian population.

Background: Oral cancer is known as one of the most common cancers, with a poor prognosis, related to delayed clinical diagnosis, either due to the lack of particular biomarkers related to the disease or costly therapeutic alternatives. Aims and Objectives: In this study association of single nucleotide polymorphism (Taq1, T>C) in Vitamin D receptor gene with oral cancer and pre oral cancer was studied. Materials and Methods: Total 230 patients of precancerous oral lesions (Leukoplakia 70, Oral Sub mucous fibrosis 90, Lichen Planus 70), 72 oral cancer patients and 300 healthy control subjects were genotyped by PCR-RFLP methods. Chi-square test was used for calculation of genotype and allele frequencies. Results: Mutant genotype CC as well as C allele were found to significantly decrease the risk of oral disease (P value=0.04, OR=0.60 and P value=0.02, OR=0.75 respectively). In particular, compared to non smokers, smokers with TC & CC genotypes were at decrease risk of oral diseases (P value=0.0001, OR=0.04). The mutant allele genotype CC as well as the mutant allele C showed protective association with leukoplakia (P value=0.01, OR=0.39 & P value=0.009, OR=0.59 respectively). However, individual with CC genotype had developed high cell differentiated grade at diagnosis (OR= 3.78, P value= 0.008). Conclusions: This study concludes that VDR (Taq1) polymorphism is associated with oral cancer and pre oral cancer susceptibility in North Indian population.

Abdominal Obesity, Excessive Adiposity, and the Taq1B CETP Variant Are Positively Associated with Serum Lipid Levels in Mexican Women.

INTRODUCTION: Obesity is a prevalent multifactorial disease whose main complication is dyslipidemia. Serum lipid levels also depend on genetic factors including the Taq1B variant of the CETP gene, which is suggested to be influenced by environmental factors and adiposity. Therefore, this study aimed to determine the effect of the Taq1B CETP variant on serum lipid levels associated with anthropometrical variables. METHODS: 165 women from western Mexico were enrolled in this cross-sectional study. Weight and body fat were measured by bioimpedance and waist circumference with a measuring tape. Serum lipid levels were determined by dry chemistry. The Taq1B CETP variant was analyzed by allelic discrimination. RESULTS: Women with abdominal obesity and the B1B2/B2B2 genotype had significantly higher total cholesterol levels (195.17 [185.95-204.39] vs. 183 mg/dL [169.83-196.16], p = 0.007) and low density lipoprotein (118.84 [110.65-127.03] vs. 113.84 mg/dL [102.37-125.31], p = 0.037) than carriers of the B1B1 genotype. Likewise, subjects with excessive adiposity and the B1B2/B2B2 genotype showed significantly higher total cholesterol levels (195.05 [186.04-204.06] vs. 182.40 mg/dL [169.03-195.76], p = 0.003) than those with the B1B1 genotype. CONCLUSION: Women with abdominal obesity or excessive adiposity, who are also carriers of the B1B2/B2B2 genotype, have higher serum lipid levels than women with the B1B1 genotype.