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排序方式: 共有250条查询结果,搜索用时 15 毫秒
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Objectives: The aims of this study are to (1) study the influence of polymorphisms in adiponectin gene on adiponectin levels and potential associations with breast, prostate and colon cancer; (2) investigate the associations of adiponectin levels with other adipokines and breast, prostate and colon cancers.
Subjects: We measured fasting adiponectin, leptin, insulin, Sex steroids in 132 (66 females, 66 males) cancer patients and 68 age and sex matched apparently healthy subjects. Body Mass Index (BMI) and waist circumference were used as indices of obesity. Insulin Resistance was assessed using Homeostasis Model Assessment (HOMA). Three single nucleotide polymorphisms (SNP rs182052 (G-10066-A), SNP rs1501299 (276G > T), SNP rs224176 (45T > G) in adiponectin gene were studied using Real Time Polymerase Chain Reaction.
Results: GG genotype of SNP rs1501299 was significantly associated with higher levels of adiponectin (OR=1.2, 95%CI(1.03–1.3), p = 0.02); breast (OR=8.6, 95%CI(1.03–71), p = 0.04), colon cancers (OR= 12, 95%CI(1.2–115), p = 0.03). GT genotype was also associated significantly with colon cancer (OR=2.6, 95%CI (1.1–6), p = 0.03). However SNP rs224176 was associated with only breast cancer.
Conclusion: Our results demonstrate that adiponectin gene SNP rs1501299 and SNP rs224176 may be the predisposing factors in some cancers but our results differ from what has been reported in other populations suggesting a complex relationship between genetic variations and phenotypic adiponectin levels. 相似文献
245.
Patrinos GP Al Aama J Al Aqeel A Al-Mulla F Borg J Devereux A Felice AE Macrae F Marafie MJ Petersen MB Qi M Ramesar RS Zlotogora J Cotton RG 《Human mutation》2011,32(1):2-9
Developing countries have significantly contributed to the elucidation of the genetic basis of both common and rare disorders, providing an invaluable resource of cases due to large family sizes, consanguinity, and potential founder effects. Moreover, the recognized depth of genomic variation in indigenous African populations, reflecting the ancient origins of humanity on the African continent, and the effect of selection pressures on the genome, will be valuable in understanding the range of both pathological and nonpathological variations. The involvement of these populations in accurately documenting the extant genetic heterogeneity is more than essential. Developing nations are regarded as key contributors to the Human Variome Project (HVP; http://www.humanvariomeproject.org), a major effort to systematically collect mutations that contribute to or cause human disease and create a cyber infrastructure to tie databases together. However, biomedical research has not been the primary focus in these countries even though such activities are likely to produce economic and health benefits for all. Here, we propose several recommendations and guidelines to facilitate participation of developing countries in genetic variation data documentation, ensuring an accurate and comprehensive worldwide data collection. We also summarize a few well-coordinated genetic data collection initiatives that would serve as paradigms for similar projects. 相似文献
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Luigia De Falco Francesca Totaro Antonella Nai Alessia Pagani Domenico Girelli Laura Silvestri Carmelo Piscopo Natascia Campostrini Carlo Dufour Fahd AL Manjomi Milen Minkov Dennis G. Van Vuurden Aurora Feliu Antonis Kattamis Clara Camaschella Achille Iolascon 《Human mutation》2010,31(5):E1390-E1405
Mutations leading to abrogation of matriptase‐2 proteolytic activity in humans are associated with an iron‐refractory iron deficiency anemia (IRIDA) due to elevated hepcidin levels. In this paper we describe 12 IRIDA patients belonging to 7 unrelated families and identify 10 (9 novel) TMPRSS6 mutations spread along the gene sequence: 5 missense, 1 non sense and 4 frameshift. The frameshift and non sense mutations are predict to result in truncated protein lacking the catalytic domain. The causal role of missense mutations (Y141C, I212T, R271Q, S304L and C510S) is demonstrated by in silico analysis, their absence in 100 control chromosomes and the high conservation of the involved residues. The C510S mutation in the LDLRA domain in silico model causes an intra‐molecular structural imbalance that impairs matriptase‐2 activation. We also assessed the in vitro effect on hepcidin promoter and the proteolytic activity of I212T and R271Q variants demonstrating a reduced inhibitory effect for the former mutation, but surprisingly a normal function for R271Q which appears a silent mutation in vitro. Based on mRNA expression studies I212T could also decrease the total amount of protein produced, likely interfering with mRNA stability. Collectively, our results extend the pattern of TMPRSS6 mutations associated with IRIDA and propose a model of causality for some of the novel missense mutation. © 2010 Wiley‐Liss, Inc. 相似文献
248.
Muthukrishnan Eaaswarkhanth Ajai K. Pathak Linda Ongaro Francesco Montinaro Prashantha Hebbar Osama Alsmadi Mait Metspalu Fahd Al-Mulla Thangavel Alphonse Thanaraj 《European journal of human genetics : EJHG》2022,30(3):307
Recent studies have showed the diverse genetic architecture of the highly consanguineous populations inhabiting the Arabian Peninsula. Consanguinity coupled with heterogeneity is complex and makes it difficult to understand the bases of population-specific genetic diseases in the region. Therefore, comprehensive genetic characterization of the populations at the finest scale is warranted. Here, we revisit the genetic structure of the Kuwait population by analyzing genome-wide single nucleotide polymorphisms data from 583 Kuwaiti individuals sorted into three subgroups. We envisage a diverse demographic genetic history among the three subgroups based on drift and allelic sharing with modern and ancient individuals. Furthermore, our comprehensive haplotype-based analyses disclose a high genetic heterogeneity among the Kuwaiti populations. We infer the major sources of ancestry within the newly defined groups; one with an obvious predominance of sub-Saharan/Western Africa mostly comprising Kuwait-B individuals, and other with West Eurasia including Kuwait-P and Kuwait-S individuals. Overall, our results recapitulate the historical population movements and reaffirm the genetic imprints of the legacy of continental trading in the region. Such deciphering of fine-scale population structure and their regional genetic heterogeneity would provide clues to the uncharted areas of disease-gene discovery and related associations in populations inhabiting the Arabian Peninsula.Subject terms: Rare variants, High-throughput screening 相似文献
249.
Ali Alkhaibary Ahoud Alharbi Noura Alsubaie Noor Alghanim Sami Khairy Nabil Ozair Laila Baydhi Fahd Musawnaq Makki Almuntashri Abdulaziz Alarifi Mohammed Alwohaibi Ahmed Aloraidi Riyadh Alokaili Ahmed Alkhani 《Radiology Case Reports》2022,17(2):416
Superficial temporal artery pseudoaneurysms are uncommon but can be potentially life-threatening. Considering their rarity, the present article outlines the clinical presentation, radiological findings, intervention, and outcome of traumatic pseudoaneurysm of the superficial temporal artery. An 83-year-old female sustained a traumatic injury to the temple, resulting in right-sided swelling of the forehead. Brain computed tomography and cerebral angiogram revealed a right-sided homogenously-enhancing pseudoaneurysm in the frontal region. Successful occlusion of the lesion was achieved utilizing endovascular embolization. Three months after discharge, the patient reported no complaints or recurrence. Subsequent management included reassurance and observation with periodic clinical assessments. The unusual presentation of superficial temporal artery pseudoaneurysms requires clinicians to have thorough knowledge on the clinical presentation, proper steps in diagnosis, and the approach of choice in management. Endovascular embolization of superficial temporal artery pseudoaneurysms remains a valid approach to achieve successful occlusion of the lesion. 相似文献
250.
Christoph Wiest MD Francesca Morgante MD PhD Flavie Torrecillos PhD Alek Pogosyan PhD Shenghong He PhD Fahd Baig MD PhD Ilaria Bertaina MD Michael G. Hart MD PhD Mark J. Edwards MD PhD Erlick A. Pereira MD Huiling Tan PhD 《Movement disorders》2023,38(3):423-434