131,261 research outputs found

    Peran Polimorfisme Gen Reseptor Vitamin D ApaI dan TaqI Terhadap Risiko Kejadian Psoriasis

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    Backgroud: Psoriasis is chronic inflammation disease of the skin caused by abnormalities of epidermal proliferation and differentiation with biochemical, immunological and vascular disorders. There are several factors contribute to this condition, such as genetics, obesity, alcohol consumption, psychological stress, smoking, and vitamin D. Studies show different results regarding the role of vitamin D receptor gene polymorphisms in psoriasis. Therefore, a study was conducted to determine the role of vitamin D receptor gene polymorphisms, especially ApaI and TaqI on the risk of psoriasis. Objectives: To determine the role of vitamin D receptor gene polymorphisms of ApaI and TaqI on the risk of psoriasis. Subjects and methods: This research is an analytic study with a case control design involving 128 research subjects consisting of 64 psoriasis patients and 64 healthy controls. All research subjects underwent a process of history taking, physical examination, and blood collection followed by PCR-RFLP. The collected data was analyzed descriptively and presented in a frequency distribution table. Furthermore, data was statistically analyzed using Chi Square to see the association of vitamin D receptor gene polymorphisms on psoriasis. Result: After statistical analysis, it was found that there was no association between the vitamin D receptor gene polymorphisms of the ApaI and TaqI and the risk of psoriasis, with p values of 0.844 and 0.783, respectively. Conclusion: Vitamin D receptor gene polymorphism ApaI and TaqI has no role in the risk of psoriasis.Latar belakang: Psoriasis merupakan penyakit inflamasi kronik pada kulit yang disebabkan karena abnormalitas pertumbuhan dan diferensiasi epidermis serta berbagai gangguan biokimia, imunologis dan vaskular. Faktor yang dapat mempengaruhi keadaan ini, yaitu genetik, obesitas, konsumsi alkohol, tekanan psikologis, kebiasaan merokok, dan vitamin D. Beberapa penelitian masih menunjukkan hasil yang berbeda mengenai peran polimorfisme gen reseptor vitamin D terhadap psoriasis. Oleh karena itu, dilakukan penelitian untuk mengetahui peran polimorfisme gen reseptor vitamin D terutama ApaI dan TaqI terhadap risiko psoriasis. Tujuan: Untuk mengetahui peran polimorfisme gen reseptor vitamin D ApaI dan TaqI terhadap risiko kejadian psoriasis. Subjek penelitian dan metode: Penelitian ini merupakan penelitian analitik dengan rancangan kasus kontrol dengan melibatkan 128 subjek penelitian yang terdiri atas 64 orang pasien psoriasis dan 64 orang kontrol sehat. Seluruh subjek penelitian menjalani proses anamnesis, pemeriksaan fisik, dan pengambilan darah yang dilanjutkan dengan PCR-RFLP. Data yang terkumpul dianalisis secara deskriptif dan disajikan dalam tabel distribusi frekuensi. Selanjutnya, dilakukan pengolahan data dengan uji statistik Chi Square untuk melihat pengaruh polimorfisme gen reseptor vitamin D terhadap kejadian psoriasis. Hasil: Setelah dilakukan analisis statistik, didapatkan bahwa tidak terdapat hubungan antara polimorfisme gen reseptor vitamin ApaI dan TaqI dengan risiko kejadian psoriasis, dengan nilai p masing-masing 0.844 dan 0.783. Kesimpulan: Polimorfisme gen reseptor vitamin D ApaI dan TaqI tidak berperan dalam risiko psoriasis.99 HalamanTesis Magiste

    Peran Polimorfisme Gen Reseptor Vitamin D ApaI dan TaqI Terhadap Risiko Kejadian Psoriasis

    No full text
    Backgroud: Psoriasis is chronic inflammation disease of the skin caused by abnormalities of epidermal proliferation and differentiation with biochemical, immunological and vascular disorders. There are several factors contribute to this condition, such as genetics, obesity, alcohol consumption, psychological stress, smoking, and vitamin D. Studies show different results regarding the role of vitamin D receptor gene polymorphisms in psoriasis. Therefore, a study was conducted to determine the role of vitamin D receptor gene polymorphisms, especially ApaI and TaqI on the risk of psoriasis. Objectives: To determine the role of vitamin D receptor gene polymorphisms of ApaI and TaqI on the risk of psoriasis. Subjects and methods: This research is an analytic study with a case control design involving 128 research subjects consisting of 64 psoriasis patients and 64 healthy controls. All research subjects underwent a process of history taking, physical examination, and blood collection followed by PCR-RFLP. The collected data was analyzed descriptively and presented in a frequency distribution table. Furthermore, data was statistically analyzed using Chi Square to see the association of vitamin D receptor gene polymorphisms on psoriasis. Result: After statistical analysis, it was found that there was no association between the vitamin D receptor gene polymorphisms of the ApaI and TaqI and the risk of psoriasis, with p values of 0.844 and 0.783, respectively. Conclusion: Vitamin D receptor gene polymorphism ApaI and TaqI has no role in the risk of psoriasis.Latar belakang: Psoriasis merupakan penyakit inflamasi kronik pada kulit yang disebabkan karena abnormalitas pertumbuhan dan diferensiasi epidermis serta berbagai gangguan biokimia, imunologis dan vaskular. Faktor yang dapat mempengaruhi keadaan ini, yaitu genetik, obesitas, konsumsi alkohol, tekanan psikologis, kebiasaan merokok, dan vitamin D. Beberapa penelitian masih menunjukkan hasil yang berbeda mengenai peran polimorfisme gen reseptor vitamin D terhadap psoriasis. Oleh karena itu, dilakukan penelitian untuk mengetahui peran polimorfisme gen reseptor vitamin D terutama ApaI dan TaqI terhadap risiko psoriasis. Tujuan: Untuk mengetahui peran polimorfisme gen reseptor vitamin D ApaI dan TaqI terhadap risiko kejadian psoriasis. Subjek penelitian dan metode: Penelitian ini merupakan penelitian analitik dengan rancangan kasus kontrol dengan melibatkan 128 subjek penelitian yang terdiri atas 64 orang pasien psoriasis dan 64 orang kontrol sehat. Seluruh subjek penelitian menjalani proses anamnesis, pemeriksaan fisik, dan pengambilan darah yang dilanjutkan dengan PCR-RFLP. Data yang terkumpul dianalisis secara deskriptif dan disajikan dalam tabel distribusi frekuensi. Selanjutnya, dilakukan pengolahan data dengan uji statistik Chi Square untuk melihat pengaruh polimorfisme gen reseptor vitamin D terhadap kejadian psoriasis. Hasil: Setelah dilakukan analisis statistik, didapatkan bahwa tidak terdapat hubungan antara polimorfisme gen reseptor vitamin ApaI dan TaqI dengan risiko kejadian psoriasis, dengan nilai p masing-masing 0.844 dan 0.783. Kesimpulan: Polimorfisme gen reseptor vitamin D ApaI dan TaqI tidak berperan dalam risiko psoriasis.99 HalamanTesis Magiste

    Osteoartrit Gelişimi ve Vitamin D Reseptör Geni TaqI ve ApaI Polimorfizmleri Arasındaki İlişki Üzerine Bir Araştırma

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    Amaç: Bu çalışmada vitamin D reseptör (VDR) geni TaqI ve ApaI polimorfizmlerinin Türk toplumunda osteoartrit gelişiminde rol oynayıp oynamadığının belirlenmesi amaçlandı.Hastalar ve yöntemler: Çalışmada 140 kişiden (95 osteoartritli hasta ve 45 sağlıklı kontrol) genomik DNA izole edildi. DNA spesifik primerler ile polimeraz zincir reaksiyonu yöntemi ile amplifiye edildi, VDR geni TaqI ve ApaI polimorfizmi genotiplerinin analizi için ise restriksiyon parça uzunluk polimorfizm (RFLP) tekniği kullanıldı. Polimeraz zincir reaksiyonu-RFLP ürünleri agaroz jel elektroforezine tabi tutularak ultraviyole translüminatör ile değerlendirildi.Bulgular: Vitamin D reseptor geni TaqI and ApaI polimorfizmleri genotip dağılımları ve alel frekansları açısından osteoartrit hastaları ile kontrol grubu arasında istatistiksel olarak anlamlı bir fark yoktu (p0.05). Buna ek olarak, hem hasta hem de kontrol grubuna ait genotipler ve klinik özellikler arasında istatistiksel olarak anlamlı bir fark yoktu.Sonuç: Sonuç olarak, bu çalışmanın sonuçları üzerinde çalışılan Türk toplumunda VDR geni TaqI and ApaI polimorfizmlerinin osteoartrit gelişiminde rol oynamadığına işaret etmektedir.Objectives: This study aims to determine whether Vitamin D receptor (VDR) gene TaqI and ApaI polymorphisms are involved in the development of osteoarthritis in the Turkish population. Patients and methods: In this study, genomic DNA was isolated from 140 subjects (95 patients with osteoarthritis and 45 healthy controls). The DNA was amplified with specific primers by polymerase chain reaction and the restriction fragment length polymorphism (RFLP) technique was used to analyze the VDR gene TaqI and ApaI polymorphism genotypes. Polymerase chain reaction-RFLP products were assessed with and ultraviolet transilluminator by being exposed to agarose gel electrophoresis. Results: In terms of the genotype distributions and the allele frequencies of VDR gene TaqI and ApaI polymorphisms, there was no statistically significant difference (p>0.05) between the osteoarthritis patients and the controls. In addition, there was also no statistically significant difference between the genotypes and clinical characteristics of the patients or controls. Conclusion: In conclusion, the results of the present study suggest that VDR gene TaqI and ApaI polymorphisms are not involved in the development of osteoarthritis in the studied Turkish population

    Vitamin D receptor gene polymorphisms (TaqI and ApaI) in relation to 25-hydroxyvitamin D levels and coronary artery disease incidence

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    © 2014 Informa Healthcare USA, Inc. Context/objective: Previous studies have illustrated the association of the ApaI and TaqI polymorphisms of the vitamin D receptor gene, located in non-coding and coding regions, respectively, with diseases such as cancer and cardiovascular disease; however, investigating such association in Egyptian patients with coronary artery disease (CAD) has never been formerly attempted. Materials and methods: Male patients (n = 137), 35-50 years of age, with verified CAD, were recruited alongside age-and sex-matched controls (n = 58). Genotyping and 25-hydroxyvitamin D [25(OH)D] measurement were performed by polymerase chain reaction RFLP and HPLC, respectively. Results: Comparison of the genotypic distribution of both the TaqI and ApaI polymorphisms between patients and controls yielded insignificant results (p = 0.55 and 0.7, respectively). Comparison of the allelic distribution of both polymorphisms also yielded insignificant results. The TaqI polymorphism was not found to predict 25(OH)D levels, whereas the wild-type genotype of the ApaI polymorphism was associated with greater levels of 25(OH)D (p = 0.02), taking all subjects into consideration. Discussion/conclusion: This study presents the ApaI and TaqI polymorphisms as non-influencing players in the pathogenesis of CAD in Egyptian males and the ability of only the ApaI polymorphism to predict 25(OH)D levels, thus warranting further investigations of the triangular relationship between the polymorphisms, 25(OH)D and CAD incidence

    Correlation of vitamin D receptor gene (ApaI) polymorphism with periodontitis: A meta‐analysis of Chinese population

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    Many studies have tried to elucidate the connection between vitamin D receptor (VDR) gene (ApaI) polymorphism and periodontitis; however, so far there is no consensus. To further assess the impact of ApaI polymorphism on periodontitis risk, we have conducted a meta‐analysis of Chinese population. Relevant literatures were searched according to PubMed and Chinese database in January 2019. The strength of correlation was evaluated by combining odds ratio (ORs) and 95% confidence interval (CIs). Six case–control studies were identified with inclusion criteria, including 734 cases of periodontitis and 687 controls. Based on the overall analysis, the VDR ApaI polymorphism was not due to the risk of periodontitis in all models. Subgroup analysis showed that the risk of periodontitis in North China was significantly reduced. To sum up, the study shows that VDR‐ApaI polymorphism may be connected with a lower risk of periodontitis in northern China. It is suggested that inferential studies should be conducted in other ethnic groups

    Analisa Polimorfisme Gen Reseptor Vitamin D (VDR) Sisi Restriksi ApaI pada Sampel Pasien Berpenyakit Asma

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    Asupan Vitamin D yang memadai dapat melindungi seseorang dari serangan penyakit asma. Kalsitrolyang merupakan bentuk aktif vitamin D,membutuhkan reseptor vitamin D untuk dapat bereaksi. Reseptor ini dikode oleh gen vitamin D receptor (VDR) yang diketahuimempunyai beberapa sisi polimorfisme, salah satunya adalah sisi restriksi ApaI. Pada penelitian sebelumnya, ditemukan adanya hubungan antara polimorfisme gen VDR sisi restriksi ApaI dengan penyakit asma yang diderita anak-anak. Penelitian ini bertujuan untuk mengetahui hubungan antara polimorfisme genetik VDRsisi restriksi ApaIdengan respon vitamin D pada pasien berpenyakit asmadi Indonesia, khususnya populasi orangdi pulauJawa. Sampel penelitian sebanyak 25 orang dengan penyakitasma. Seluruh pasien diberikan vitamin D dengan dosis 400 IU selama 8 minggu. Pemeriksaan asthma control test(ACT)dilakukan pada pasien sebelum pemberian vitamin D dan sesudah pemberian vitamin D. Penentuan tipe alel polimorfisme gen VDRpada pasien dilakukan dengan metode RFLP.Hasil penelitian menunjukkanbahwapasien dengan tipe alel homozigot mutantsebesar 32 % (8/25), pasien dengan tipe alel homozigot wild typesebesar 24 % (6/25), dan pasien dengan tipe alel heterozigot sebesar 44 %(11/25). Pada semua tipe alel, pasien dengan peningkatan nilai ACT setelah pemberian vitamin D paling banyak ditemukan.Oleh karena itu, disimpulkanbahwarespon vitamin D pada pasien berpenyakit asma tidak memiliki hubungan dengan polimorfisme gen VDRsisi restriksi ApaI

    The Most Common Vitamin D Receptor Polymorphisms (ApaI,FokI, TaqI, BsmI, and BglI) in Children with Dental Caries: A Systematic Review and Meta-Analysis

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    Vitamin D participates in the calcification of enamel and dentin and the appropriate immune responses to oral microbial infections. We aimed to assess the association between the most common vitamin D receptor (VDR) polymorphisms (ApaI,FokI, TaqI, BsmI, and BglI) and the risk of dental caries in children. Methods: PubMed/MEDLINE, Cochrane Library, Web of Science, and Scopus databases were comprehensively searched until 19 January 2021. Meta-analysis with odds ratios as the effect estimate along with 95% confidence intervals and subgroup analysis were conducted using Review Manager 5.3 software. Publication bias and sensitivity analyses were conducted by Comprehensive Meta-Analysis, version 2.0 software. Results: Seventy-eight studies were retrieved from the databases, with nine studies included in the final analysis. Based on five genetic models, there was no association between ApaI (rs7975232), TaqI (rs731236), BsmI (rs1544410), FokI (rs2228570), and BglI (rs739837) polymorphisms and susceptibility to dental caries, except for the FokI (rs10735810) polymorphism. Conclusion: Among the VDR polymorphisms considered, an association was found between the FokI (rs10735810) polymorphism and the risk of dental caries, with a protective role of the f allele and ff genotype

    Vitamin D Receptor ApaI a Allele Is Associated with Better Childhood Asthma Control and Improvement in Ability for Daily Activities.

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    Abstract Vitamin D levels have been suggested as a marker of disease severity in asthmatic children. Our aim was to investigate possible associations between the vitamin D receptor (VDR) FokI, BsmI, ApaI, and TaqI polymorphisms and asthma susceptibility and control in children. 127 Greek children with asthma and 91 healthy controls were genotyped for VDR FokI, BsmI ApaI, and TaqI polymorphisms using Sequenom MassARRAY iPLEX platform. Asthma control was assessed according to the Global Initiative for Asthma guidelines (GINA) and Childhood Asthma Control Test (C-ACT) and, for the first time, tested for its possible association with VDR SNPs. Asthmatic children were grouped as "controlled (n=49)", "partially controlled (n=38)," and "uncontrolled (n=40)," according to GINA classification. No association was found between VDR polymorphisms and asthma prevalence. Asthmatic children with the VDR ApaI aa genotype had significantly higher C-ACT score compared with asthmatic children carrying the AA/AC VDR ApaI genotypes (p=0.011). The frequency of VDR ApaI aa genotype was significantly higher in controlled asthma group (n=92) than uncontrolled asthma group (n=35), according to C-ACT (24.5% vs 0.0%, p<0.001) and GINA (32.7% vs 7.5%, p=0.001). Also, VDR ApaI aa genotype was negatively associated with limitation in daily activities because of asthma (p=0.004). VDR ApaI aa genotype was positively associated with well-controlled asthma according to GINA and C-ACT questionnaire and negatively associated with decreased limitation in daily activities in asthmatic children, further supporting the importance of Vitamin D pathway in asthma.Abstract Vitamin D levels have been suggested as a marker of disease severity in asthmatic children. Our aim was to investigate possible associations between the vitamin D receptor (VDR) FokI, BsmI, ApaI, and TaqI polymorphisms and asthma susceptibility and control in children. 127 Greek children with asthma and 91 healthy controls were genotyped for VDR FokI, BsmI ApaI, and TaqI polymorphisms using Sequenom MassARRAY iPLEX platform. Asthma control was assessed according to the Global Initiative for Asthma guidelines (GINA) and Childhood Asthma Control Test (C-ACT) and, for the first time, tested for its possible association with VDR SNPs. Asthmatic children were grouped as "controlled (n=49)", "partially controlled (n=38)," and "uncontrolled (n=40)," according to GINA classification. No association was found between VDR polymorphisms and asthma prevalence. Asthmatic children with the VDR ApaI aa genotype had significantly higher C-ACT score compared with asthmatic children carrying the AA/AC VDR ApaI genotypes (p=0.011). The frequency of VDR ApaI aa genotype was significantly higher in controlled asthma group (n=92) than uncontrolled asthma group (n=35), according to C-ACT (24.5% vs 0.0%, p<0.001) and GINA (32.7% vs 7.5%, p=0.001). Also, VDR ApaI aa genotype was negatively associated with limitation in daily activities because of asthma (p=0.004). VDR ApaI aa genotype was positively associated with well-controlled asthma according to GINA and C-ACT questionnaire and negatively associated with decreased limitation in daily activities in asthmatic children, further supporting the importance of Vitamin D pathway in asthma

    Association of vitamin D receptor gene TaqI, FokI and ApaI variants with arteriovenous fistula failure in hemodialysis patients

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    Purpose:We investigated the influence of the vitamin D receptor gene TaqI (rs731236), ApaI (rs7975232), and FokI (rs2228570) polymorphisms in arteriovenous fistula failure in hemodialysis patients.Methods:This study was carried out with 54 patients who experienced two or more fistula failures in the late period after arteriovenous fistula operation and 58 control patients with no history of arteriovenous fistula failure in 3 years or longer. The polymerase chain reaction–restriction fragment length polymorphism method was used to determine the vitamin D receptor TaqI, FokI, and ApaI polymorphisms.Results:For vitamin D receptor gene TaqI and Fok1 polymorphisms, no significant association was found between the two groups ( p &gt; 0.05). However, a statistically significant association was determined for ApaI polymorphism between the two groups ( p = 0.02). In patients, ApaI AA, AC, and CC genotype frequencies were found as 21 (38.9%), 32 (59.3%), and 1 (1.8%), respectively. However, genotype frequencies of AA, AC, and CC in the control group were 29 (50%), 22 (37.9%), and 7 (12.1%), respectively. In all three polymorphisms, no significant difference was found between the two groups in terms of allele frequencies ( p &gt; 0.05).Conclusion:Vitamin D receptor ApaI AC genotype may be a possible cardiovascular risk factor for the development of arteriovenous fistula failure.</jats:sec

    The Association of Vitamin D Receptor Gene (VDR) ApaI Polymorphism with the Risk of Breast Cancer in Markazi Province Women

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    Abstract Background: Biological and epidemiological data indicate that the levels of vitamin D maybe affect the breast cancer risk. Vitamin D plays an important role in cell proliferation, apoptosis and tumor growth suppression. Vitamin D receptor is a critical mediator for the cellular reactions of vitamin D. Some of the epidemiological studies, reviewed the relationship between VDR gene polymorphism ApaI and breast cancer, but the controversial findings have been achieved. Materials and Methods: In this study, a population-based case-control study including 140 patients and 160 healthy individuals of women in Markazi Province were evaluated using PCR-RFLP approach. Genomic DNA was extracted from blood samples using the salting-out procedure. Polymorphism of interest was determined by PCR-RFLP method using ApaI enzyme and statistical analysis was performed by SPSS software. Results: Based on the results of this study, distribution of AA genotype in cancer and control groups was, 38.6 and 26.87, for AC genotype 55.00 and 66.87, and finally for CC genotype 6.43 and 6.26 respectively. The results of this study showed no association between ApaI polymorphism of the VDR gene and breast cancer(OR=0.903,CI=95%, 0.29-2.95.) Conclusion: In this study, we found no association between ApaI polymorphism and breast cancer, which are consistent with the findings of some other researchs. It is necessary to examine a larger population to achieve more definitive results
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