Investigation of the Vitamin D Receptor Polymorphisms in Acromegaly Patients

Objective. The genetic structural alterations in the majority of somatotroph adenomas are not clarified and the search for novel candidate genes is still a challenge. We aimed to investigate possible associations between vitamin D receptor (VDR) polymorphisms and acromegaly.Design, Patients, and Methods. 52 acromegaly patients (mean age45.7±1.9years) and 83 controls (mean age43.1±2.6years) were recruited to the study. VDR polymorphism was determined by polymerase chain reaction-based restriction fragment length polymorphism methods.Results. The distribution of VDR genotypes showed a significant difference in the frequencies of VDR FokI genotypes between patients and controls (P=0.034). VDR FokI ff genotype was significantly decreased in acromegaly patients (P=0.035) and carriers of FokI Ff genotype had a 1.5-fold increased risk for acromegaly (OR: 1.5, 95% CI: 1.07–2.1;P=0.020). IGF1 levels after treatment were significantly higher in patients carrying the Ff genotype compared to carrying ff genotype (P=0.0049). 25(OH)D3 levels were significantly lower in acromegaly patients (P<0.001).Conclusions. Our study suggests that VDR FokI genotypes might affect the development of acromegaly and VDR polymorphisms may play a role in the course of acromegaly as a consequence of altering hormonal status.

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Association analysis of vitamin D receptor gene polymorphisms in North England population with Type 2 diabetes mellitus

African Health Sciences ◽

10.4314/ahs.v21i1.3 ◽

2021 ◽

Vol 21 (1) ◽

pp. 8-14

Author(s):

Naila Abdul Sattar ◽

Sumera Shaheen ◽

Fatma Hussain ◽

Amer Jamil

Keyword(s):

Vitamin D ◽

Vitamin D Receptor ◽

Fragment Length Polymorphism ◽

Receptor Gene ◽

Vitamin D Receptor Gene ◽

Chain Reaction ◽

The North ◽

Polymerase Chain ◽

Restriction Fragment Length

Background: Numerous diabetes susceptibility loci, include a region consisting vitamin D receptor gene found in chromo- some 12q, have been known using genome wide screens. Aim: The aim of present study is to probe the relationship between polymorphism of vitamin D receptor gene (single nu- cleotide polymorphisms) and type 2 diabetes mellitus (T2DM). Five hundred T2DM patients and 200 healthy subjects with normal HbA1c( ≤ 5.0 %), fasting blood sugar (≤ 120 mg/dL) and random blood sugar (≤ 140 mg/dL) were enrolled. Metholodgy: The genotypes were found by polymerase chain reaction restriction fragment length polymorphism and DNA sequencing. Results: revealed that no considerable differences in frequencies of genotype and allele of the Bsm I and Fok I polymor- phisms between healthy and patients in the North England (For Fok I: OR = 1.11, 95% CI: 0.72–1.12; for Bsm I: OR = 1.35, 95% CI: 0.79–1.98). Conclusion: It is recommended that both following polymorphisms of vitamin D receptor gene may not considerably add to the progression of T2DM in the North England. Keywords: T2DM; DNA Sequencing; Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP); Single nucleotide Polymorphism (SNP);VDR.

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

BMC Cardiovascular Disorders ◽

10.1186/s12872-021-01959-x ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Damir Raljević ◽

Viktor Peršić ◽

Elitza Markova-Car ◽

Leon Cindrić ◽

Rajko Miškulin ◽

...

Keyword(s):

Myocardial Infarction ◽

Acute Myocardial Infarction ◽

Vitamin D ◽

Coronary Artery ◽

Vitamin D Receptor ◽

Gene Polymorphisms ◽

Vdr Gene ◽

Vdr Polymorphism ◽

Vdr Gene Polymorphisms ◽

Vdr Polymorphisms

Abstract 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.

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The Vitamin D Receptor (VDR) Gene Polymorphisms in Turkish Brain Cancer Patients

BioMed Research International ◽

10.1155/2013/295791 ◽

2013 ◽

Vol 2013 ◽

pp. 1-6 ◽

Cited By ~ 8

Author(s):

Bahar Toptaş ◽

Ali Metin Kafadar ◽

Canan Cacina ◽

Saime Turan ◽

Leman Melis Yurdum ◽

...

Keyword(s):

Vitamin D ◽

Cancer Patients ◽

Vitamin D Receptor ◽

Brain Cancer ◽

Gene Polymorphisms ◽

Vdr Gene ◽

Increased Risk ◽

Vdr Gene Polymorphisms ◽

Significant Difference ◽

Healthy Control

Objective. It has been stated that brain cancers are an increasingly serious issue in many parts of the world. The aim of our study was to determine a possible relationship between Vitamin D receptor (VDR) gene polymorphisms and the risk of glioma and meningioma.Methods. We investigated the VDR Taq-I and VDR Fok-I gene polymorphisms in 100 brain cancer patients (including 44 meningioma cases and 56 glioma cases) and 122 age-matched healthy control subjects. This study was performed by polymerase chain reaction-based restriction fragment length polymorphism (RF LP).Results. VDR Fok-I ff genotype was significantly increased in meningioma patients (15.9%) compared with controls (2.5%), and carriers of Fok-I ff genotype had a 6.47-fold increased risk for meningioma cases. There was no significant difference between patients and controls for VDR Taq-I genotypes and alleles.Conclusions. We suggest that VDR Fok-I genotypes might affect the development of meningioma.

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CYP27B1 Gene Polymorphism rs10877012 in Patients Diagnosed with Colorectal Cancer

Nutrients ◽

10.3390/nu12040998 ◽

2020 ◽

Vol 12 (4) ◽

pp. 998

Author(s):

Maria Latacz ◽

Jadwiga Snarska ◽

Elżbieta Kostyra ◽

Konrad Wroński ◽

Ewa Fiedorowicz ◽

...

Keyword(s):

Colorectal Cancer ◽

Vitamin D ◽

Fragment Length Polymorphism ◽

Intestinal Cells ◽

Chain Reaction ◽

The Third ◽

Pcr Rflp ◽

Study Population ◽

Polymerase Chain ◽

Peripheral Leukocytes

Colorectal cancer (CRC) is the third most commonly occurring cancer worldwide. Intestinal cells are CYP27B1 gene expression sites and, as a consequence, they are capable of converting pro-vitamin D into the active paracrine and autocrine forms. It was demonstrated that rs10877012 polymorphism in the CYP27B1 gene influenced the circulating vitamin D level. This provided a rationale for determining the role that this polymorphism plays in the risk of developing colon cancer. In this study, we investigated the association of rs10877012 (T/G) polymorphism in the CYP27B1 gene with CRC susceptibility. The study population (n = 325) included CRC patients (n = 106) and healthy controls (n = 219). DNA was extracted from peripheral leukocytes and analyzed for the CYP27B1 polymorphism using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. We found an association between the presence of the T allele at the polymorphic site (odds ratio (OR) = 2.94; 95% CI 1.77–4.86; p < 0.0001) and a decreased CRC incidence.

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MDR1 polymorphisms are not related to Xeliri and Xelox chemoresistance in colorectal cancer

10.21203/rs.2.14185/v1 ◽

2019 ◽

Author(s):

Ayat B. Al-Ghafari ◽

Areej M. Alqahtani ◽

Suzan N. Alturki ◽

Huda Abdulaziz Al Doghaither ◽

Hanaa M. Tashkandi ◽

...

Keyword(s):

Colorectal Cancer ◽

Drug Response ◽

Fragment Length Polymorphism ◽

Protective Role ◽

Genotype Distribution ◽

Chain Reaction ◽

P Glycoprotein ◽

Significant Difference ◽

Pcr Rflp ◽

Polymerase Chain

Abstract Background Multidrug resistance member 1 (MDR1) is located on chromosome 7 and encodes P-glycoprotein (Pgp), which is universally accepted as a drug resistance biomarker. MDR1 polymorphisms may change either the protein expression or function, suggesting its possible association with cancers, including colorectal cancer (CRC). Thus, this study aimed to determine the effects of MDR1 polymorphisms on the drug response of Saudi CRC patients.Methods DNA samples were obtained from 62 CRC patients and 100 healthy controls. The genotypes and allele frequencies of the MDR1 polymorphisms G2677T and T1236C were determined by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP).Results No significant difference was observed in the genotype distribution and allele frequency of T1236C between the CRC the patients and the controls. However, G2677T was found to play a highly significant protective role against the progression of CRC. Moreover, the results showed that none of the genotypes in SNPs T1236C and G2677T affected chemoresistance to Xeliri and Xelox.Conclusions T1236C in the MDR1 gene is not related to CRC risk, and G2677T protects against the development of CRC. Both MDR1 polymorphisms are not associated with the risk of chemoresistance.

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BSMI AND TAQI POLYMORPHISMS IN VITAMIN D RECEPTOR GENE OF TYPE 2 DIABETES MELLITUS PATIENTS FROM NORTH INDIA

Asian Journal of Pharmaceutical and Clinical Research ◽

10.22159/ajpcr.2016.v9s3.14875 ◽

2016 ◽

Vol 9 (9) ◽

pp. 186 ◽

Cited By ~ 1

Author(s):

Nancy Taneja ◽

Rajesh Khadagawat ◽

Shalini Mani

Keyword(s):

Diabetes Mellitus ◽

Type 2 Diabetes ◽

Vitamin D ◽

Vitamin D Receptor ◽

Metabolic Diseases ◽

Fragment Length Polymorphism ◽

Wild Type ◽

Significant Difference ◽

Restriction Fragment Length

ABSTRACTObjective: Polymorphisms in vitamin D receptor (VDR) genes are known to be linked with different metabolic diseases including Type 2 diabetesmellitus (T2DM) also. However, the association of these polymorphisms is not much explored for the Indian population. To determine the prevalenceof BsmI and TaqI polymorphism in VDR gene of T2DM patients from North India.Methods: Blood samples were obtained from 100 well-characterized T2DM patients and 100 healthy controls. Genomic DNA was isolated from bloodsamples and using polymerase chain reaction/restriction fragment length polymorphism based method, the presence of these polymorphisms wasinvestigated in these samples. The data were statistically analyzed using SPSS 21.0 software.Results: For TaqI polymorphism, both the wild type (TT) and heterozygous (TC) genotype showed a significant difference between patients andcontrols (p=0.023 and p<0.001, respectively). Whereas, the frequency of CC genotype was not significantly different among these groups (p=0.506).For BsmI polymorphism also, the frequency of wild type (GG) and heterozygous (GA) genotype was significantly different in patients and controls(p=0.027 and p=0.001), respectively. However, the frequency of AA genotype was not of statistical significance in patients (p=0.071).Conclusions: The mutant alleles of TaqI and BsmI polymorphisms are known to be associated with different metabolic diseases, including diabetestoo. In our study also, there is a significant difference between the frequency of wild type and heterozygous genotype for these polymorphisms. Thissuggests that BsmI and TaqI polymorphisms may be associated with T2DM patients.Keywords: Type 2 diabetes mellitus, Polymorphism, Vitamin D receptor, Patient, Control, Restriction fragment length polymorphism.

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Interleukin-16Polymorphism Is Associated with an Increased Risk of Ischemic Stroke

Mediators of Inflammation ◽

10.1155/2013/564750 ◽

2013 ◽

Vol 2013 ◽

pp. 1-5 ◽

Cited By ~ 7

Author(s):

Xiao-li Liu ◽

Jian-zong Du ◽

Yu-miao Zhou ◽

Qin-fen Shu ◽

Ya-guo Li

Keyword(s):

Ischemic Stroke ◽

Chinese Population ◽

Fragment Length Polymorphism ◽

Chain Reaction ◽

Sequencing Method ◽

Increased Risk ◽

Pcr Rflp ◽

Polymerase Chain ◽

The Relationship ◽

Genotype And Allele Frequencies

Clinical and experimental data have demonstrated that inflammation plays fundamental roles in the pathogenesis of ischemic stroke. Interleukin-16 (IL-16) is identified as a proinflammatory cytokine that is a key element in the ischemic cascade after cerebral ischemia. We aimed to examine the relationship between theIL-16polymorphisms and the risk of ischemic stroke in a Chinese population. A total of 198 patients with ischemic stroke and 236 controls were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing method. We found that the rs11556218TG genotype and G allele ofIL-16were associated with significantly increased risks of ischemic stroke (TG versus TT, adjusted OR = 1.88; 95% CI, 1.15–3.07; G versus T, adjusted OR = 1.54; 95% CI, 1.05–2.27, resp.). However, there were no significant differences in the genotype and allele frequencies ofIL-16rs4778889 T/C and rs4072111 C/T polymorphisms between the two groups, even after stratification analyses by age, gender, and the presence or absence of hypertension, diabetes mellitus, hypercholesterolemia, and hypertriglyceridemia. These findings indicate that theIL-16polymorphism may be related to the etiology of ischemic stroke in the Chinese population.

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Associations between vitamin D receptor genotypes and mortality in a cohort of older Dutch individuals

Acta Endocrinologica ◽

10.1530/eje-10-0688 ◽

2011 ◽

Vol 164 (1) ◽

pp. 75-82 ◽

Cited By ~ 11

Author(s):

Renate T de Jongh ◽

Paul Lips ◽

Kelly J Rijs ◽

Natasja M van Schoor ◽

Mark H H Kramer ◽

...

Keyword(s):

Vitamin D ◽

Vitamin D Receptor ◽

Mortality Risk ◽

Dna Analysis ◽

Osteoporotic Fractures ◽

Population Based ◽

Vdr Polymorphism ◽

Hydroxyvitamin D ◽

Increased Risk ◽

Haplotype 1

ContextVitamin D receptor (VDR) polymorphisms are associated with a variety of diseases, which may translate into an effect on mortality.ObjectiveTo investigate the associations betweenVDRgene variants and mortality among older people.DesignThe analyses were conducted in a population-based, prospective cohort of the Longitudinal Aging Study Amsterdam. Adequate DNA analysis was performed in 923 men and women (≥65 years). We aimed to assess the associations between mortality and the VDR polymorphismFokI, three haplotypes of theCdx2andGATApolymorphisms, and three haplotypes of theBsmI,ApaI, andTaqIpolymorphisms.ResultsDuring the median follow-up of 10.7 years, 480 participants deceased (51%). Homozygosity for theCdx2–GATAhaplotype 1 allele was associated with a 30% higher mortality risk compared to the absence of alleles (hazard ratios (HR) 1.30, 95% confidence intervals (CI) 1.01–1.68). Adjustment for cardiovascular risk factors and 25-hydroxyvitamin D levels did not affect this HR. The number of copies of theCdx2–GATAhaplotype 1 allele was associated, although not significantly, with an increased risk of osteoporotic fractures (0 copies=reference, HR, 95% CI: 1 copy 2.01, 0.99–4.07 and 2 copies 1.81, 0.87–4.18). After adjustment for osteoporotic fractures, homozygosity for theCdx2–GATAhaplotype 1 allele was no longer associated with higher mortality risk (HR 1.08, 95% CI 0.83–1.41).ConclusionsTheCdx2–GATAhaplotype 1 allele was related to increased mortality risk, which may be partly explained by osteoporotic fractures. As the biological mechanism is uncertain and this study size is limited, our results should be interpreted as hypothesis generating.

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Association betweenTLR4andTLR9Gene Polymorphisms with Development of Pulmonary Tuberculosis in Zahedan, Southeastern Iran

The Scientific World JOURNAL ◽

10.1155/2013/534053 ◽

2013 ◽

Vol 2013 ◽

pp. 1-7 ◽

Cited By ~ 16

Author(s):

Danial Jahantigh ◽

Saeedeh Salimi ◽

Roya Alavi-Naini ◽

Abolfazl Emamdadi ◽

Hamid Owaysee Osquee ◽

...

Keyword(s):

Genetic Factors ◽

Fragment Length Polymorphism ◽

Healthy Controls ◽

Newly Diagnosed ◽

Significant Relation ◽

Chain Reaction ◽

Endemic Region ◽

Increased Risk ◽

Increase Risk ◽

Polymerase Chain

Some evidence suggests that a variety of genetic factors contribute to development of the tuberculosis (TB).TLR4andTLR9have been proposed as susceptibility genes for TB. This study was performed in 124 newly diagnosed TB cases and 149 healthy controls in a TB-endemic region of Iran. TheTLR4genes Asp299Gly, Thr399Ile, andTLR9gene T-1486C polymorphisms were amplified by polymerase chain reaction (PCR) and then detected by PCR-restriction fragment length polymorphism (RFLP). The frequencies of the mutant alleles ofTLR4Arg299Gly, Thr399Ile, andTLR9T-1486C polymorphisms were 0.8versus0.1, 5.6versus3, and 28.6versus25.2 in patients and controls, respectively, that were not significant. The synergic effect of TI,II/CC genotypes forTLR4Thr399Ile andTLR9T-1486C polymorphisms showed increased risk of PTB susceptibility. In conclusion, no significant relation was found betweenTLR4andTLR9polymorphisms alone and PTB. However, synergic effects ofTLR4Thr399Ile andTLR9-1486T/C polymorphisms might increase risk of PTB.

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Novel and sensitive detection systems for the vitamin D receptor — in situ-reverse transcriptase-polymerase chain reaction and immunogold cytochemistry

Journal of Molecular Endocrinology ◽

10.1677/jme.0.0160183 ◽

1996 ◽

Vol 16 (2) ◽

pp. 183-195 ◽

Cited By ~ 17

Author(s):

A P Mee ◽

L K Davenport ◽

J A Hoyland ◽

M Davies ◽

E B Mawer

Keyword(s):

Vitamin D ◽

Polymerase Chain Reaction ◽

Cell Line ◽

Vitamin D Receptor ◽

Human Kidney ◽

Rt Pcr ◽

Chain Reaction ◽

Polymerase Chain ◽

Low Levels

ABSTRACT The receptor for the active metabolite of vitamin D, 1,25(OH)2D3, known as the vitamin D receptor (VDR), belongs to the steroid hormone nuclear receptor superfamily. We have developed novel methods for detection of VDR mRNA and protein within a human promyelomonocytic cell line, HL-60. Using the newly developed technique of in situ-reverse transcriptase-polymerase chain reaction (IS-RT-PCR), low levels of VDR mRNA could be amplified and demonstrated unequivocally within these cells, and also within a human kidney proximal tubule cell line, CL-8. Use of a novel immunogold cytochemical technique has allowed clear and sensitive detection of VDR protein expression within the HL-60 cells. Further development of IS-RT-PCR has allowed us to apply this technique to tissue sections. We have shown clear amplification of VDR transcripts within sections of formalin-fixed paraffin-embedded human kidney and liver. These techniques will be useful to localise specifically the VDR within cell types that contain low levels of mRNA and protein, and will permit further investigation of the role played by 1,25(OH)2D3 in cellular regulatory mechanisms.

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