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Gluthatione-S-transferase P1 polymorphism I105V in familial and sporadic prostate cancer 总被引:1,自引:0,他引:1
Debes JD Yokomizo A McDonnell SK Hebbring SJ Christensen GB Cunningham JM Jacobsen SJ Tindall DJ Liu W Schaid DJ Thibodeau SN 《Cancer Genetics and Cytogenetics》2004,155(1):82-86
Several reports suggest that the glutathione-S-transferase (GST) family of enzymes is involved in a variety of cancers, due to their carcinogen-detoxification properties. A polymorphism in codon 105 of the pi variant (GSTP1 I105V), which affects the enzymatic activity of the enzyme, has been linked to the incidence of cancers from different organs. However, the published data in prostate cancer (PCa) is controversial. Some studies report an association with the GSTP1 I105V polymorphism and sporadic PCa, whereas other studies report no association. Recently, one study showed a positive correlation between the GSTP1 I105V polymorphism and familial PCa in a Japanese population. In the present study, we assessed the correlation of the GSTP1 I105V polymorphism with familial and sporadic PCa in an American population. We analyzed DNA samples from 438 patients with familial PCa, 499 patients with sporadic PCa, and 510 controls. We found no significant association between the GSTP1 I105V polymorphism and familial or sporadic PCa when compared to the control group [odds ratio (OR) =1.0 (0.74-1.37); P=0.58]. Moreover, no association was found after stratification for age of diagnosis, Gleason grade, or lymph node involvement [OR =0.84 (0.65-1.09), P=0.37]. These data indicate that there is no associated risk for sporadic or familial PCa in American families containing the GSTP1 I105V polymorphism. 相似文献
3.
A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture 总被引:8,自引:7,他引:8
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S N Thibodeau 《Clinical chemistry》1987,33(10):1726-1730
Recombinant DNA technology promises to play an increasingly important role in the future of medicine. Application of this technology to the study of human disease will help us to define and clarify the molecular pathology of many clinical disorders, provide new diagnostic tools and approaches, and, finally, will provide new therapeutic agents including gene-replacement therapy. We have begun to exploit these powerful new techniques to aid in the laboratory diagnosis of several genetic disorders for which reliable assays are currently not available, such as "Fragile X" syndrome. 相似文献
6.
Daniel J. Schaid Shannon K. McDonnell Liesel M. FitzGerald Lissa DeRycke Zachary Fogarty Graham G. Giles Robert J. MacInnis Melissa C. Southey Tu Nguyen-Dumont Geraldine Cancel-Tassin Oliver Cussenot Alice S. Whittemore Weiva Sieh Nilah Monnier Ioannidis Chih-Lin Hsieh Janet L. Stanford Johanna Schleutker Cheryl D. Cropp Stephen N. Thibodeau 《European urology》2021,79(3):353-361
BackgroundFamily history of prostate cancer (PCa) is a well-known risk factor, and both common and rare genetic variants are associated with the disease.ObjectiveTo detect new genetic variants associated with PCa, capitalizing on the role of family history and more aggressive PCa.Design, setting, and participantsA two-stage design was used. In stage one, whole-exome sequencing was used to identify potential risk alleles among affected men with a strong family history of disease or with more aggressive disease (491 cases and 429 controls). Aggressive disease was based on a sum of scores for Gleason score, node status, metastasis, tumor stage, prostate-specific antigen at diagnosis, systemic recurrence, and time to PCa death. Genes identified in stage one were screened in stage two using a custom-capture design in an independent set of 2917 cases and 1899 controls.Outcome measurements and statistical analysisFrequencies of genetic variants (singly or jointly in a gene) were compared between cases and controls.Results and limitationsEleven genes previously reported to be associated with PCa were detected (ATM, BRCA2, HOXB13, FAM111A, EMSY, HNF1B, KLK3, MSMB, PCAT1, PRSS3, and TERT), as well as an additional 10 novel genes (PABPC1, QK1, FAM114A1, MUC6, MYCBP2, RAPGEF4, RNASEH2B, ULK4, XPO7, and THAP3). Of these 10 novel genes, all but PABPC1 and ULK4 were primarily associated with the risk of aggressive PCa.ConclusionsOur approach demonstrates the advantage of gene sequencing in the search for genetic variants associated with PCa and the benefits of sampling patients with a strong family history of disease or an aggressive form of disease.Patient summaryMultiple genes are associated with prostate cancer (PCa) among men with a strong family history of this disease or among men with an aggressive form of PCa. 相似文献
7.
Abstract: We report the first case of fatal anthrax meningoencephalitis in Hong Kong over the past 60 years. A 13 year-old boy presented with right lower quadrant pain, diarrhoea and progressive headache. Lumbar puncture yielded gram positive bacilli initially thought to be Bacillus cereus, a contaminant. He was treated with ampicillin and cefotaxime, but died 3 days after hospitalization. The organism isolated from blood and cerebrospinal fluid was later identified as Bacillus anthracis. 相似文献
8.
Brittany C. Thomas Stephen N. Thibodeau Noralane M. Lindor 《Current colorectal cancer reports》2005,1(2):103-109
Referrals to genetics services are becoming increasingly common for patients who are diagnosed with early-onset colorectal
cancer (CRC) or patients who have a family history of CRC. Microsatellite instability (MSI) testing and immunohistochemical
analysis (IHC) of the patient’s tumor tissue, which assess indirectly the cellular status of DNA mismatch repair, have proven
important tools for geneticists and genetic counselors to determine whether or not these individuals may be at risk for an
inherited cancer syndrome, Lynch syndrome (a subset of hereditary nonpolyposis colorectal cancer). The application of tumor
MSI/ IHC also extends to the group of providers involved in the diagnosis and management of CRC, demonstrating the growing
clinical applicability of MSI/IHC testing. This review discusses the clinical utility of MSI/IHC analysis, including its benefits
and limitations, and addresses some of the current debates surrounding testing. 相似文献
9.
正常人口服磷酸川芎嗪的药代动力学研究 总被引:26,自引:0,他引:26
本文建立了用高效液相色谱法测定人体内川芎嗪血药浓度的方法,以C18化学键合硅胶(10μgm)为固定相,以甲醇—水(58:42)为流动相,280 nm俭测,安眠酮为内标,进行定量测定,得出俭测限为3.5 ng(S/N=4),最低检测血清浓度为17.4 ng/ml,川芎嗪血药浓度在0.029~5.82μg/ml范围内,线性关系良好,方法回收率为99.84%。方法重现性好,专一性强,内源性物质、代谢产物及同时服用的药物均不干扰。用本法测定了健康人口服川芎嗪的药代动力学参数。 相似文献
10.
报道了β-阻滞剂塞利洛尔的简便制备方法,即以对乙氧基苯胺为原料,经酰胺化,傅克反应,以环氧氯丙烷取代,最后用叔丁胺直接与环氧基反应开环等4步反应制得。比文献五步反应缩短了一步,产物经元素分析、红外光谱、核磁共振谱、质谱等分析确定结构。 相似文献