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FokI Polymorphism (foki + polymorphism)

Distribution by Scientific Domains

Medical Sciences	100%

Selected Abstracts

Haplotype and genotypes of the VDR gene and cutaneous melanoma risk in non-Hispanic whites in Texas: A case,control study

INTERNATIONAL JOURNAL OF CANCER, Issue 9 2008
Chunying Li
Abstract In a hospital-based case,control study of 805 non-Hispanic whites with cutaneous melanoma and 841 cancer-free age-, sex- and ethnicity-matched control subjects, 3 VDR polymorphisms (i.e., TaqI, BsmI and FokI) were genotyped using blood samples collected between 1994 and 2006. We tested the hypothesis that the haplotypes and combined genotypes of these polymorphisms were associated with melanoma risk by interacting with known risk factors. Haplotypes t-B-F (adjusted odds ratio [OR], 0.52; 95% confidence interval [CI], 0.34,0.80) and t-B-f (adjusted OR, 0.51; CI, 0.27,0.94) were associated with a reduced risk when compared to T-b-f. The combined genotypes Tt+tt/Bb+BB/Ff+ff (adjusted OR, 0.69; CI, 0.52, 0.90) and Tt+tt/Bb+BB/FF (adjusted OR, 0.58; CI, 0.43, 0.78) were also associated with reduced risk, whereas the combined genotype TT/Bb+BB/Ff+ff genotype (adjusted OR, 2.35; CI, 1.13, 4.98) was associated with increased risk when compared to TT/bb/Ff+ff genotypes. On multivariate analysis, only the TaqI polymorphism was an independent risk factor, while the FokI polymorphism interacted with skin color (p = 0.029), moles (p = 0.017) and first-degree relatives with any cancer (p = 0.013) in modifying risk. Together, these findings suggest that VDR polymorphisms may directly affect or modify the risk associated with known melanoma risk factors. Larger, population-based studies are needed to replicate our findings. © 2008 Wiley-Liss, Inc. [source]

Association of vitamin D receptor gene polymorphisms in Chinese patients with generalized aggressive periodontitis

JOURNAL OF PERIODONTAL RESEARCH, Issue 3 2008
S. Li
Background and Objective:, The clinical features suggest that genetic factors may have a strong influence on susceptibility to aggressive periodontitis. The aim of this study was to investigate the association of vitamin D receptor gene polymorphisms with generalized aggressive periodontitis in Chinese patients. Material and Methods:, A restriction fragment length polymorphism (RFLP) for 10,438,141 C to T (rs1544410, BsmI), 10,382,063 A to G (rs731236, TaqI), 10,382,143 C to A (rs7975232, ApaI) and 10,416,201 A to G (rs2228570, FokI) of vitamin D receptor gene was analysed by polymerase chain reaction, followed by digestion with restriction enzymes and gel electrophoresis. The genotypes of 51 generalized aggressive periodontitis patients and 53 periodontally healthy control subjects were analysed. The genotypic and allelic frequencies of each polymorphism site for the patients and control subjects were compared. Results:, The distribution of vitamin D receptor FokI genotypes and alleles between the two groups was significantly different (p = 0.043 and p = 0.012, respectively). The F allele seemed to increase the susceptibility of aggressive periodontitis (odds ratio = 2.02, 95% confidence interval = 1.16,3.50) in Chinese patients. There was no significant difference in the genotype distribution or the allele frequencies of vitamin D receptor BsmI, ApaI and TaqI between two groups. Conclusion:, The study indicates that FokI polymorphism of vitamin D receptor gene might be associated with generalized aggressive periodontitis in Chinese patients. In addition, the carriage of F allele increases the risk of developing generalized aggressive periodontitis. [source]

Association of vitamin D receptor (Fok-I) polymorphism with the clinical presentation of calcium urolithiasis

BJU INTERNATIONAL, Issue 6 2007
Chia-Chu Liu
OBJECTIVE To investigate the effect of the vitamin D receptor (VDR) FokI polymorphism on the clinical presentation of calcium urolithiasis, as a FokI polymorphism in the VDR gene was recently reported to be associated with calcium metabolism disorders. PATIENTS, SUBJECTS AND METHODS In all, 235 patients with calcium urolithiasis and 231 age- and sex-matched healthy controls were recruited from Kaohsiung Medical University Hospital between June 2003 and February 2005. Clinical information on the age at first onset, stone episodes, stone severity and presence of family history were collected from patients with stones. Any VDR FokI polymorphism was detected using polymerase chain reaction-based restriction analysis. RESULTS The frequency of VDR FokI genotypes between the patients and the healthy controls was not significantly different. However, among patients, those with the FF genotype had a significantly higher risk of having more stone episodes (adjusted odds ratio 2.15, 95% confidence interval 1.02,4.54, P = 0.044) and were younger at the first onset (3.23, 1.08,9.63, P = 0.036) than those with the ff genotype. CONCLUSION The VDR FokI polymorphism might be important in the clinical presentation of patients with calcium urolithiasis, especially for the frequency of stone episodes and age at first onset, although it is not associated with the formation of stones. [source]