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BackgroundThe classical protein tyrosine phosphatases (PTPs) have been widely reported to be associated with various human malignancies including colorectal cancer (CRC). However, there are few comprehensive analyses of the association between the classical PTP genes and CRC risk.MethodsFirst, a bioinformatics analysis was performed to identify missense variants within the classical PTP gene family. Second, exome-wide association data and an independent population study were conducted to evaluate effects of candidate variants on CRC risk. Finally, functional assays based on signaling pathways were applied to uncover the potential pathogenic mechanism.ResultsWe identified that PTPN12 rs3750050 G allele presented a 19% increase the risk of CRC, with an OR of 1.19 (95% CI = 1.09–1.30, P = 1.015×10−4) under an additive model in the combined analysis. Furthermore, biochemical assays illustrated that rs3750050 could impair the inhibitory effect of PTPN12 on Ras/MEK/ERK signaling by impeding SHC dephosphorylation, increase the expression of cyclin D1 and ultimately lead to aberrant cell proliferation, thus contributing to CRC pathogenesis.ConclusionOur study highlights that PTPN12 rs3750050 could increase CRC risk by modifying Ras/MEK/ERK signaling. This work provides a novel insight into the roles of genetic variants within PTP genes in the pathogenesis of CRC. 相似文献
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Intervertebral disk degeneration(IDD) is strongly associated with genetic predisposition and environmental susceptibility. Several studies been conducted to investigate the potential association between IDD and Fok I polymorphism located in the gene encoding the vitamin D receptor(VDR), and inconsistent conclusions had been reached among different ethnic populations. In order to assess the association between the Fok I polymorphism and the risk of IDD, we performed a comprehensive and systematic meta-analysis. Candidate articles were retrieved from Pub Med,EMBASE, China National Knowledge Infrastructure(CNKI), and China Biology Medical(CBM) with strict inclusion criteria in January 2015. Among the 54 articles that were retrieved, only eight studies met the inclusion criteria. The pooled data analysis based on allele contrast, homozygote, heterozygote, dominant, and recessive models revealed no significant correlation between the Fok I polymorphism and the risk of IDD. However, when stratified by ethnicity, significant associations were detected for Hispanics based on allele contrast(OR = 1.395, 95% CI = 1.059–1.836,P = 0.018), homozygote(OR = 1.849, 95% CI = 1.001–3.416, P = 0.049), heterozygote(OR = 1.254, 95% CI = 1.049–1.498, P = 0.013), and dominant(OR = 1.742, 95%CI = 1.174–2.583, P = 0.006) models, and for Asians using the dominant model(OR = 1.293,95% CI = 1.025–1.632, P = 0.030), whereas there is no significant association detected for Caucasians. In conclusion, Fok I polymorphism is not generally associated with IDD, but there is increased risk for IDD in Hispanics and Asians carrying Fok I allele T. 相似文献
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Ignacio F. San Francisco Pablo A. Rojas Verónica Torres‐Estay Susan Smalley Javier Cerda‐Infante Viviana P. Montecinos Claudia Hurtado Alejandro S. Godoy 《Journal of cellular and molecular medicine》2014,18(1):125-133
To study the association between the polymorphisms Arg462Gln and Asp541Glu from the RNASEL gene (1q25), and the polymorphisms rs620861, rs1447295, rs6983267, rs7837328 from the chromosome 8q24 with the risk of presenting prostate cancer (PCa) and its clinical characteristics in a Hispanic (Chilean) population. The study was performed on 21 control patients and 83 patients diagnosed with PCa. Polymorphisms were analysed from blood samples through real‐time PCR by using TaqMan probes, and the genetic analysis was performed with the SNPStats program. Also, a comparison was performed between clinical characteristics of PCa and the presence of the different polymorphism genotypes by using the Minitab software. There was a significant association between the genotype G/G from the polymorphism rs6983267 with an overall increased risk of PCa, in patients both with or without family history of PCa (OR = 4.47, 95% CI = 1.05–18.94, P = 0.034 and OR = 3.57, 95% CI = 0.96–13.35, P = 0.037, respectively). Regarding clinical parameters, patients carrying the genotype C/C from the polymorphism Asp541Glu had significantly higher prostate‐specific antigen (PSA) levels than patients carrying the other genotypes (P = 0.034). Moreover, patients with the genotype G/G of rs6983267 had higher PSA levels (P = 0.024). The polymorphism rs6983267 from region 3 of the chromosome 8q24 appears to be a prominent risk factor for PCa and a biomarker for cancer aggressiveness in the group of patients who presented higher levels of PSA at the time of diagnosis. 相似文献
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Katarina Lindahl Carl-Johan Rubin Magnus K. Karlsson Claes Ohlsson Eric Orwoll Andreas Kindmark 《Biochemical and biophysical research communications》2009,384(4):501-70
Genetic variation plays an important role in osteoporosis and a prime candidate gene is Collagen alpha2(I) (COL1A2). A coding polymorphism (rs42524) in COL1A2 has previously been associated with intracranial aneurysms. Here the effects of this polymorphism have been studied in relation to bone mineral density (BMD) and prevalences of stroke and myocardial infarction (MI). rs42524 was genotyped in elderly men (n = 2004) from the Swedish MrOS cohort. Genotypes were analysed for association to BMD and certain health parameters. Significant associations (overall P < 0.05), were observed between rs42524 genotype and BMD at several skeletal sites. Surprisingly, the heterozygote genotype class exhibited lower BMD than either homozygote group. When subjects were classified as heterozygotes or homozygotes, the heterozygous genotype was found to confer a lower BMD at total hip, femoral neck and trochanter Furthermore, the heterozygote genotype had an increased risk of stroke and MI, with population Attributable Risks being 0.12 and 0.08, respectively. 相似文献
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Sayyed Saeid Khayyatzadeh Mehrane Mehramiz Habibollah Esmaeily Seyed Jamal Mirmousavi Leila Khajavi Fatemeh Nejati Salehkhani Parichehr Hanachi Hamidreza Bahrami-Taghanaki Saeed Eslami Hasan Vatanparast Gordon A. Ferns Amir Avan Majid Ghayour-Mobarhan 《Journal of cellular physiology》2019,234(8):13977-13983
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Raed M. Kanan 《Indian journal of human genetics》2013,19(2):233-238
CONTEXT:
Osteoporosis is a polygenic, multifactorial disease that is characterized by demineralization of bone, and thus presented with decreasing bone mineral mass. Vitamin D receptor (VDR) gene polymorphisms in the 3’-end region (as determined by the enzymes BsmI and ApaI) have been inconsistently associated with bone mineral mass. Another important VDR start codon polymorphism (as determined by the enzyme FokI) has been found to be related to adult bone mineral density (BMD) in pre-and post-menopausal American women.AIMS:
This study aims to investigate the prevalence of the FokI VDR gene polymorphism in Jordanian perimenopausal women and study its relationship with bone mineral density.MATERIALS AND METHODS:
DNA was isolated from 90 controls (Mean age = 50.41 ± 1.29 y), and 120 patients with symptomatic vertebral fractures (Mean age = 49.14 ± 3.19 y). Restriction Fragment Length Polymorphism (RFLP) analysis of FokI was performed on DNA samples.STATISTICAL ANALYSIS:
Data was analyzed using SPSS v19 and Microsoft Excel 2007.RESULTS:
The results showed that in controls, the FF (−0.70 ± 0.51) genotype is associated with high lumbar spine BMD Z-score as compared to Ff (−1.25 ± 0.26) and ff (−1.66 ± 0.47) genotypes (P = 0.0095). In patients, the ff genotype was associated with lower lumbar spine BMD in T-score (−2.31 ± 0.17) and Z-score (−1.56 ± 0.09) genotypes (P = 0.031). No significant association was seen in the femoral neck BMD.CONCLUSION:
FokI polymorphism may be associated with low BMD in our studied population; however, further studies including other polymorphisms and large sample number are needed. 相似文献80.
Subashini C. Thambiah Meor Fairuz Rizal Meor Anuar Shuhaili Boon How Chew Intan Nureslyna Samsudin Hejar Abdul Rahman Johnson Stanslas 《Biomarkers》2013,18(7):659-665
AbstractIntroduction: Statin, the first-line treatment for dyslipidaemia, may have suboptimal adherence due to its associated muscle adverse events. These data, however, remain limited.Aim: To determine the association of serum creatine kinase (CK) and SLCO1B1 rs4363657 polymorphism with statin-associated muscle adverse events (SAMAE) among dyslipidaemia participants.Methods: This was a prospective cohort study at government health clinics involving newly diagnosed adults with dyslipidaemia. SAMAE were recorded based on the patient’s complaint after a month on statin. CK was taken at baseline and follow-up. Genetic profiling was performed for SLCO1B1 rs4363657 polymorphism.Results: Among 118 participants, majority were Malay (72%) males (61%) with a mean age of 49?±?12.2 years old and prescribed lovastatin (61.9). There was a significant association between statin types (lovastatin and simvastatin) and SAMAE (p?=?0.0327); no significant association noted between CK and SAMAE (p?=?0.5637). The SLCO1B1 rs4363657 polymorphism was significantly associated SAMAE (p?<?0.0001).Conclusions: In this first pilot study of a multiethnic Malaysian population, the incidence of SAMAE was 18.6%. SAMAE were significantly higher in subjects on lovastatin compared to simvastatin. SLCO1B1 rs4363657 polymorphism was a significant risk factor for SAMAE. 相似文献