• 제목/요약/키워드: Fok1 polymorphism

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The Fok1 Vitamin D Receptor Gene Polymorphism and 25(OH) D Serum Levels and Prostate Cancer among Jordanian Men

  • Atoum, Manar Fayiz;AlKateeb, Dena;Mahmoud, Sameer Ahmed AlHaj
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권6호
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    • pp.2227-2230
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    • 2015
  • Background: Prostate cancer (PCa) is one of the most commonly diagnosed neoplasms and the second leading cause of cancer death in men in the Western world. Vitamin D (1,25dihydroxy vitamin D) is linked to many biological processes that influence oncogenesis but data on relations between its genetic variants and cancer risk have been inconsistent. The aim of this study was to determine associations between a vitamin D genetic polymorphism and 25-hydroxyvitamin D [25(OH)D] levels and prostate cancer. Materials and Methods: Genomic DNA was extracted from 124 Jordanian prostate cancer patients and 100 healthy volunteers. Ethical approval was granted from the ethical committee at Hashemite University and written consent was given by all patients. PCR was used to amplify the vitamin D receptor Fok1 polymorphism fragment. 25(OH)D serum levels were measured by competitive immunoassay. Results: All genotypes were in Hardy-Weinberg equilibrium. Genotype frequency for Fok1 genotypes FF, Ff and ff was 30.7%, 61.3% and 8.06%, for prostate cancer patients, while frequencies for the control group was 28.0%, 66.0% and 6.0%, respectively, with no significant differences. Vitamin D serum level was significantly lower in prostate cancer patients (mean 7.7 ng/ml) compared to the control group (21.8 ng/ml). No significant association was noted between 25(OH)D and VDR Fok1 gene polymorphism among Jordanians overall, but significant associations were evident among prostate cancer patients (FF, Ff and ff : 25(OH)D levels of 6.2, 8.2 and 9.9) and controls (19.0, 22.5 and 26.3, respectively). An inverse association was noted between 25(OH)D serum level less than 10ng/ml and prostate cancer risk (OR 35.5 and 95% CI 14.3- 88.0). Conclusions: There is strong inverse association between 25(OH)D serum level less than 10ng/ml level and prostate cancer risk.

Vitamin D Receptor Gene TaqI, BsmI and FokI Polymorphisms in Korean Patients with Tuberculosis

  • Kang, Tae-Jin;Jin, Song-Hou;Yeum, Chung-Eun;Lee, Seong-Beom;Kim, Chi-Hong;Lee, Sang-Haak;Kim, Kwan-Hyoung;Shin, Eun-Soon;Chae, Gue-Tae
    • IMMUNE NETWORK
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    • 제11권5호
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    • pp.253-257
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    • 2011
  • Background: The active metabolite (1, 25- dihydroxycholecalciferol) of vitamin D (25-hydroxycholecalciferol) leads to activation of macrophages and deficiency of vitamin D seems to be involved in the risk of tuberculosis. The effects of vitamin D are exerted by interaction with the vitamin D receptor (VDR) and may be influenced by polymorphism in the VDR gene. In this study, variation in the VDR gene was investigated in Korean population with tuberculosis. Methods: We typed three VDR polymorphisms of restriction endonuclease sites for TaqI, BsmI and FokI in 155 patients with tuberculosis and 105 healthy volunteers. Results: The frequencies of FokI genotypes determined from TB patients were 29.13% for FF, 56.31% for Ff, and 14.56% for ff. We observed 1.4-fold increased prevalence of the Ff genotype in TB patients compared with normal healthy groups (p=0.0857). However, there was no significant association between the genotype groups, TB patient and normal control, for FokI polymorphism. There was also no significant association between VDR gene and tuberculosis in another polymorphism (BsmI and TaqI). Conclusion: Three polymorphisms (TaqI, BsmI and FokI) in the VDR gene do not appear to be responsible for host susceptibility to human tuberculosis in Korean population.

Association of a VDR Gene Polymorphism with Risk of Colorectal Cancer in Kashmir

  • Rasool, Sabha;Kadla, Showkat Ahmad;Khan, Tanzeela;Qazi, Falak;Shah, Nisar Ahmad;Basu, Javed;Khan, Bilal Ahmad;Ahktar, Qulsum;Sameer, Aga Syed;Ganai, Bashir Ahmad
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권10호
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    • pp.5833-5837
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    • 2013
  • Roles of the vitamin D receptor in etiology of cancers, including colorectal cancer, have been repeatedly stressed in different parts of the world. A case control study aimed to evaluate the relationship between the two was therefore initiated in Kashmir, known both for its increasing incidence of gastrointestinal cancers and deficiency of micro-nutrients especially vitamin D. The study included a total of 617 subjects (312 colorectal cancer cases and 305 controls), with sampling carried out over a period of 5 years. DNA samples from the blood of the subjects were analyzed for start codon Fok I VDR polymorphism. We obtained a 1.3 fold increased risk among individuals homozygous for f variants as compared to subjects homozygous for F allele (odds ratio OR 1.3, 95%CI, 0.861-1.65). Our study also showed statistically significant results when dwelling and tumor location characteristics were stratified with Fok I polymorphism, all of which suggests a possible role of Fok I polymorphism in the etiology of CRC in Kashmir.

Association Between VDR Polymorphisms and Breast Cancer: An Updated and Comparative Meta-analysis of Crude and Adjusted Odd Ratios

  • Huang, Qian-Qian;Liao, Yu-Yi;Ye, Xiao-Hua;Fu, Jin-Jian;Chen, Si-Dong
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권2호
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    • pp.847-853
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    • 2014
  • There is a lot of debate on the relationship between vitamin D receptor polymorphisms and risk of breast cancer. Herein, we quantitatively analyzed the published case-control studies on this relationship by meta-analysis, performing a bibliographic search from Pubmed and CNKI up to July 31, 2013. The included case-control studies for Fok1, Bsm1, Taq1, Apa1, Cdx2 and Poly-A were 16, 19, 20, 10, 4, 6, respectively. Crude and adjusted odd ratios and 95% confidence intervals were calculated to present and compare the strength of any associations. The results of combined analyses indicated that Fok1, Bsm1, Apa1, Cdx2 and Poly-A were not significantly associated with the risk of breast cancer. In contrast, the tt genotype of Taq1 was a modest risk factor for breast cancer development (tt vs. TT: OR = 1.21, 95% CI: 1.01-1.44). To further confirm the above results, adjusted effects for the six polymorphisms were pooled based on adjusted ORs reported in the original studies. Adjusted ORs of Fok1, Apa1, Cdx2 and Poly-A were similar to the crude ORs. However, Bsm1 and Taq1 showed inconsistent results. For Bsm1, OR for BB vs. bb was 0.85, 95% CI: 0.74-0.98; for Taq1, OR for tt vs. TT was 1.03, 95% CI: 0.92-1.15, and not associated with risk. Subgroup analyses for crude ORs showed some association between Bsm1, Taq1 and breast cancer in Caucasians only, but for adjusted ORs, no associations were found. This meta-analysis suggests that the roles that Fok1, Apa1, Cdx2 and Poly-A polymorphisms play in breast cancer risk are negligible, with Bsm1 and Taq1 as possible exceptions. To be conservative, we still assumed that they may play a modest role in determining breast cancer risk. Further studies are needed to validate our findings.

Association of Benign Prostate Hyperplasia with Polymorphisms in VDR, CYP17, and SRD5A2 Genes among Lebanese Men

  • El Ezzi, Asmahan Ali;Zaidan, Wissam Rateeb;El-Saidi, Mohammed Ahmed;Al-Ahmadieh, Nabil;Mortenson, Jeffrey Benjamin;Kuddus, Ruhul Haque
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권3호
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    • pp.1255-1262
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    • 2014
  • Background: The aim of the study was to investigate any associations between benign prostate hyperplasia (BPH) and single nucleotide polymorphisms (SNPs) in the VDR gene (FokI, BsmI, ApaI and Taq${\alpha}$I loci) and the CYP17 gene (MspA1I locus), as well as TA repeat polymorphism in SRD5A2 gene among Lebanese men. Materials and Methods: DNA extracted from blood of 68 subjects with confirmed BPH and 79 age-matched controls was subjected to PCR/PCR-restriction fragment length polymorphism analysis. The odds ra=tio (OR) of having a genotype and the relative risk (RR) of developing BPH for having the genotype were calculated and the alleles were designated risk-bearing or protective. Results: Our data indicated that the A and B alleles of the VDR ApaI and BsmI SNPs were highly associated with increased risk of BPH (p=0.0168 and 0.0002, respectively). Moreover, 63% of the controls compared to 43% of the subjects with BPH were homozygous for none of the risk-bearing alleles (p=0.0123) whereas 60% of the controls and 28% of the subjects with BPH were homozygous for two or more protective alleles (p<0.0001). Conclusions: For the first time, our study demonstrated that ApaI and BsmI of the VDR gene are associated with risk of BPH among Lebanese men. Our study also indicated that overall polymorphism profile of all the genes involved in prostate physiology could be a better predictor of BPH risk.

Associations between Vitamin D Receptor (VDR) Gene Polymorphisms and Colorectal Cancer Risk and Effect Modifications of Dietary Calcium and Vitamin D in a Japanese Population

  • Takeshige, Nobuyuki;Yin, Guang;Ohnaka, Keizo;Kono, Suminori;Ueki, Takashi;Tanaka, Masao;Maehara, Yoshihiko;Okamura, Takeshi;Ikejiri, Koji;Maekawa, Takafumi;Yasunami, Yohichi;Takenaka, Kenji;Ichimiya, Hitoshi;Terasaka, Reiji
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권5호
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    • pp.2019-2026
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    • 2015
  • Much interest has been drawn to possible associations between vitamin D receptor (VDR) gene polymorphisms and colorectal cancer risk in conjunction with potentially protective effects of calcium and vitamin D. In a study of 685 cases of colorectal cancer and 778 community controls in Japan, we examined the associations of the FokI, BsmI, ApaI, and TaqI polymorphisms with colorectal cancer risk and effect modification by dietary calcium and vitamin D. Genotypes were determined by the PCR-RFLP method. The ApaI polymorphism seemed to be associated with a decreased risk of colorectal cancer, particularly of rectal cancer. The adjusted odds ratio of colorectal cancer for the ApaI AA and Aa genotypes combined versus the aa genotype was 0.83 (95% confidence interval [CI] 0.67-1.02), and the corresponding value for rectal cancer was 0.75 (95%CI 0.56-0.99). A decreased risk of colorectal cancer for the ApaI AA and Aa genotypes combined was more evident in individuals with high calcium intake (interaction p=0.055). The FokI polymorphism seemed to be associated with a decreased risk of colon cancer among those with high vitamin D intake (interaction p=0.09). The BsmI and TaqI polymorphisms were unrelated to colorectal cancer risk, and the null associations were not modified by calcium or vitamin D intake. In conclusion, the ApaI polymorphism may be associated with a decreased risk of colorectal cancer in Japanese, dependent on dietary calcium intake.

Apo CIII 유전자 다형성에 따라 영양치료 및 약물 병용치료가 고지혈증 환자의 혈중 지질 농도에 미치는 영향 (Effects of Nutrition Therapy and Drug Treatment on the Blood Lipid Levels in Patients with Hyperlipidemia according to Genetic Polymorphism of Apo CII)

  • 조여원;임정은;김수정;김영설
    • Journal of Nutrition and Health
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    • 제33권8호
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    • pp.813-823
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    • 2000
  • The purpose of this study was to investigate the effects of the nutrition therapy and drug(simvastatin) treatment on the levels of blood lipids for the hyperlipidemic patients according to genetic polymorphism of apo CIII. Subjects of the study consisted of 43(male: 9, female: 34 )hyperlipidemic patients registered to Kyung Hee Medical Center, Intakes of nutrients for the subjects were determined by 24-hr recall method through a personal interviews. The subjects were instructed to take the hypolipidemic and hypocholesterolemic diets. Compliance was monitored through food records, personal interview, and body-weight measurements. The patients changed their basal diet containing 40. 1g fat(182.7mg cholesterol./day) to a diet containing 30.7g fat(139.2mg cholesterol/day) after 12 weeks of nutrition therapy. The distribution of genotypes for apo CIII by Msp I was 32.5% of TT, 50.0% of TC, and 17.5% of CC. aT the beginning of the study, the level of blood triglyceride was the highest for patients with TT and TC. Following the nutrition therapy, patients with CC exhibited the largest drop of blood triglyceride. Following simvastatin treatment with nutrition therapy, blood LDL-cholesterol decreased in most of the patiens with TT. Meanwhile the distribution of genotypes for apo CII by the Fok I was 10.0% of TT, 47.5% of TC, and 42.5% of CC. The level of blood triglyceride was the highest for patients with CC. Following the nutrition therapy, patients with TC exhibited a significant drop for the blood triglyceride. Following simvastatin treatment with nutrition therapy the level of blood LDL-cholesterol decreased in most of the patients with CC. We concluded that dietary habits and food have been changed by nutrition therapy. And blood lipid levels have been decreased by the restriction of intakes of energy, fat and cholesterol. There was variation in the levels of blood lipids according to apo CII polymorphisms. The level of blood lipids responded to nutrition therapy and drug treatment in different was according to genetic polymorphisms. Accordingly, the choice of individualized therapy based on the patient\\`s genetic polymorphism is very important for effective therapy(Korean J Nutrition 33(8) : 813-823, 2000)

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No Association between Polymorphisms of Vitamin D and Oxytocin Receptor Genes and Autistic Spectrum Disorder in a Sample of Turkish Children

  • Bozdogan, Sevcan Tug;Kutuk, Meryem Ozlem;Tufan, Evren;Altintas, Zuhal;Temel, Gulhan Orekici;Toros, Fevziye
    • Clinical Psychopharmacology and Neuroscience
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    • 제16권4호
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    • pp.415-421
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    • 2018
  • Objective: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social skills and communication with repetitive behaviors. Etiology is still unclear although it is thought to develop with interaction of genes and environmental factors. Oxytocin has extensive effects on intrauterine brain development. Vitamin D, affects neural development and differentiation and contributes to the regulation of around 900 genes including oxytocin receptor gene. In the present study, the contribution of D vitamin receptor and oxytocin receptor gene polymorphisms in the development of ASD in Turkish community was investigated. To our knowledge, this is the first study examining these two associated genes together in the literature. Methods: Eighty-five patients diagnosed with ASD according to DSM-5 who were referred to outpatient clinics of Child and Adolescent Psychiatry of Başkent University and Mersin University and 52 healthy, age and gender-matched controls were included in the present study. Vitamin D receptor gene rs731236 (Taq1), rs2228570 (Fok1), rs1544410 (Bsm1), rs7975232 (Apa1) polymorphisms and oxytocin receptor gene rs1042778 and rs2268493 polymorphisms were investigated using real time polymerase chain reaction method. Results: No significant difference between groups in terms of distribution of genotype and alleles in each of polymorphisms for these genes could be found. Conclusion: Knowledge of genes and polymorphisms associated with the development of ASD may be beneficial for early diagnosis and future treatment. Further studies with larger populations are required to demonstrate molecular pathways which may play part in the development of ASD in Turkey.

Genetic Diversity of Sweet potato feathery mottle virus from Sweet Potatoes in Korea

  • Kwak, Hae-Ryun;Kim, Mi-Kyeong;Jung, Mi-Nam;Lee, Su-Heon;Park, Jin-Woo;Kim, Kook-Hyung;Ko, Sug-Ju;Choi, Hong-Soo
    • The Plant Pathology Journal
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    • 제23권1호
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    • pp.13-21
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    • 2007
  • Sweet potato feathery mottle virus(SPFMV) is one of the most prevalent viruses infecting sweet potatoes and occurs widely in sweet potato cultivating areas in Korea. To assess their genetic variation, a total of 28 samples infected with SPFMV were subjected to restriction fragment length polymorphism(RFLP) analysis using DNAs amplified by RT-PCR with specific primer sets corresponding to the coat protein(CP) region of the virus. The similarity matrix by UPGMA procedure indicated that 28 samples infected with SPFMV were classified into three groups based on the number and size of DNA fragments by digestion of CP-encoding regions with 7 enzymes including SalI, AluI, EcoRI, HindIII, FokI, Sau3AI, and DraI bands. Four primer combinations out of 5 designed sets were able to differentiate SPFMV and sweet potato virus G infection, suggesting that these specific primers could be used to differentiate inter-groups of SPFMV. Sequence analysis of the CP genes of 17 SPFMV samples were 97-99% and 91-93% identical at the intra-group and inter-groups of SPFMV, respectively. The N-terminal region of the CP is highly variable and examination of the multiple alignments of amino acid sequences revealed two residues(residues 31 and 32) that were consistently different between SPFMV-O and SPFMV-RC.