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https://www.readbyqxmd.com/read/27925170/associations-of-microrna-single-nucleotide-polymorphisms-and-disease-risk-and-pathophysiology
#1
REVIEW
Xiaoxiao Liu, Zhijun Han, Chengjian Yang
Single nucleotide polymorphisms (SNPs) are genetic variations that contribute to human phenotypes associated with various diseases. SNPs are involved in the regulation of a broad range of physiological and pathological processes, such as cellular senescence, apoptosis, inflammation, and immune response, by up-regulating the expression of classical inflammation markers. Recent studies have suggested that SNPs located in gene-encoding microRNAs (miRNAs) affect various aspects of diseases by regulating the expression or activity of miRNAs...
December 7, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27925035/insulin-like-growth-factor-1-gene-polymorphism-and-breast-cancer-risk
#2
Danylo R Costa-Silva, Maria DA Conceição Barros-Oliveira, Rafael S Borges, Cléciton B Tavares, Umbelina S Borges, Francisco A Alves-Ribeiro, Vladimir C Silva, Benedito B DA Silva
Insulin-like Growth Factor-1 (IGF-1) gene polymorphism has been associated with an increased risk for breast cancer. IGF-1 is a key regulator of proliferation, cell differentiation and apoptosis. It has important mitogenic and anti-apoptotic activities in normal cells and in breast cancer cells, acting synergistically with estrogen to increase neoplastic cell proliferation. This review aims to present the recent finds of IGF-1 gene polymorphism and its relationship with the risk of breast cancer through following the polymorphic dinucleotide repeat cytosine-adenine (CA) and single nucleotide polymorphisms (SNPs) by searching in the PubMed database publications focused studies published from 2010 to 2015 related to IGF-1 gene polymorphism and breast cancer risk...
December 1, 2016: Anais da Academia Brasileira de Ciências
https://www.readbyqxmd.com/read/27920557/effect-of-smoking-on-the-genetic-makeup-of-toll-like-receptors-2-and-6
#3
Muhammad Kohailan, Mohammad Alanazi, Mahmoud Rouabhia, Abdullah Alamri, Narasimha Reddy Parine, Abdullah Alhadheq, Santhosh Basavarajappa, Abdul Aziz Abdullah Al-Kheraif, Abdelhabib Semlali
BACKGROUND: Cigarette smoking is a major risk factor for lung cancer, asthma, and oral cancer, and is central to the altered innate immune responsiveness to infection. Many hypotheses have provided evidence that cigarette smoking induces more genetic changes in genes involved in the development of many cigarette-related diseases. This alteration may be from single-nucleotide polymorphisms (SNPs) in innate immunity genes, especially the toll-like receptors (TLRs). OBJECTIVE: In this study, the genotype frequencies of TLR2 and TLR6 in smoking and nonsmoking population were examined...
2016: OncoTargets and Therapy
https://www.readbyqxmd.com/read/27918429/correction-budiarto-bugi-ratno-and-desriani-detection-of-her2-gene-polymorphism-in-breast-cancer-pcr-optimization-study-sci-pharm-2016-84-103-111
#4
Bugi Ratno Budiarto, Desriani
The authors wish to make the following corrections to their paper [1]:[...].
December 2, 2016: Scientia Pharmaceutica
https://www.readbyqxmd.com/read/27917368/sex-steroid-hormone-single-nucleotide-polymorphisms-pesticide-use-and-the-risk-of-prostate-cancer-a-nested-case-control-study-within-the-agricultural-health-study
#5
Carol H Christensen, Kathryn Hughes Barry, Gabriella Andreotti, Michael C R Alavanja, Michael B Cook, Scott P Kelly, Laurie A Burdett, Meredith Yeager, Laura E Beane Freeman, Sonja I Berndt, Stella Koutros
Experimental and epidemiologic investigations suggest that certain pesticides may alter sex steroid hormone synthesis, metabolism or regulation, and the risk of hormone-related cancers. Here, we evaluated whether single-nucleotide polymorphisms (SNPs) involved in hormone homeostasis alter the effect of pesticide exposure on prostate cancer risk. We evaluated pesticide-SNP interactions between 39 pesticides and SNPs with respect to prostate cancer among 776 cases and 1,444 controls nested in the Agricultural Health Study cohort...
2016: Frontiers in Oncology
https://www.readbyqxmd.com/read/27916838/prognostic-relevance-of-methylenetetrahydrofolate-reductase-polymorphisms-for-prostate-cancer
#6
Victor C Lin, Te-Ling Lu, Hsin-Ling Yin, Sheau-Fang Yang, Yung-Chin Lee, Chia-Chu Liu, Chao-Yuan Huang, Chia-Cheng Yu, Ta-Yuan Chang, Shu-Pin Huang, Bo-Ying Bao
Folate metabolism has been associated with cancers via alterations in nucleotide synthesis, DNA methylation, and DNA repair. We hypothesized that genetic variants in methylenetetrahydrofolate reductase (MTHFR), a key enzyme of folate metabolism, would affect the prognosis of prostate cancer. Three haplotype-tagging single-nucleotide polymorphisms (SNPs) across the MTHFR gene region were genotyped in a cohort of 458 patients with clinically localized prostate cancer treated with radical prostatectomy. One SNP, rs9651118, was associated with disease recurrence, and the association persisted after multivariate analyses adjusting for known risk factors...
November 29, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27916099/-association-between-il-6-572-c-g-polymorphism-and-breast-cancer-susceptibility
#7
Zhishan Zhang, Zixuan Chen, Debo Chen, Yisheng Lin, Yancheng Jiang, Qinglan Wang
Objective To explore the associations between breast cancer and three single nucleotide polymorphisms (-597 G/A, -572 C/G and -174 G/C) of interleukin-6 (IL-6) gene promoter. Methods The study enrolled 136 breast cancer cases and 150 healthy female controls. The single nucleotide polymorphisms (SNPs) of IL-6 were identified by Sanger method of DNA sequencing, and serum IL-6 levels were measured with electrochemiluminescence immunoassay. Chi-squared test was utilized to compare frequency of a given SNP between the two groups, and t-test was employed to compare serum IL-6 levels in different groups...
December 2016: Xi Bao Yu Fen Zi Mian Yi Xue za Zhi, Chinese Journal of Cellular and Molecular Immunology
https://www.readbyqxmd.com/read/27916075/-effect-of-single-nucleotide-polymorphisms-of-rs1799937-located-in-wt1-gene-on-the-pathlogical-complete-response-to-neoadjuvant-chemotherapy-in-breast-cancer-patients
#8
M M Li, Y B Shao, H Liu, B Xu, B X He
Objective: To evaluate the association between single nucleotide polymorphisms (SNPs) of RS1799937 located in WT1 gene with complete response to neoadjuvant chemotherapy in breast cancer patients. Methods: 171 breast cancer patients with neoadjuvant chemotherapy were investigated to detect the RS1799937 polymorphism by sequenom method. The relationship between RS1799937 polymorphism and pathologic complete response (pCR) were analyzed by χ(2) test and Fisher's exact test analysis. Predictors of pCR were analyzed using multivariate logistic regression analysis...
November 29, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/27914105/genetic-variants-in-the-integrin-signaling-pathway-genes-predict-cutaneous-melanoma-survival
#9
Hongyu Li, Yanru Wang, Hongliang Liu, Qiong Shi, Yinghui Xu, Wenting Wu, Dakai Zhu, Christopher I Amos, Shenying Fang, Jeffrey E Lee, Jiali Han, Qingyi Wei
To identify genetic variants involved in prognosis of cutaneous melanoma (CM), we investigated associations of single nucleotide polymorphisms (SNPs) of genes in the integrin signaling pathway with CM survival by re-analyzing a published genome-wide association study (GWAS) from The University of Texas M.D. Anderson Cancer Center (MDACC), and then validated significant SNPs in another GWAS from Harvard University. In the MDACC study, 1,148 SNPs were significantly associated with CM-specific survival (CMSS) (P ≤ 0...
December 3, 2016: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27913881/phase-ii-trial-of-s-1-plus-leucovorin-in-patients-with-advanced-gastric-cancer-and-clinical-prediction-by-s-1-pharmacogenetic-pathway
#10
Ming-Ming He, Dong-Sheng Zhang, Feng Wang, Zi-Xian Wang, Shu-Qiang Yuan, Zhi-Qiang Wang, Hui-Yan Luo, Chao Ren, Miao-Zhen Qiu, Ying Jin, De-Shen Wang, Dong-Liang Chen, Zhao-Lei Zeng, Yu-Hong Li, Yang-Yang He, Yuan-Tao Hao, Pi Guo, Feng-Hua Wang, Yi-Xin Zeng, Rui-Hua Xu
BACKGROUND: The first one-arm phase II trial aimed to evaluate and predict efficacy and safety of S-1 plus oral leucovorin (S-1/LV) as first-line chemotherapy for patients with advanced gastric cancer (AGC), using S-1 pharmacogenetic pathway approach. PATIENTS AND METHODS: A total of 39 patients orally took S-1 at conventional dose and LV simultaneously at a dose of 25 mg twice daily for a week, within a 2-week cycle. The primary endpoint was overall response rate (ORR), while the secondary endpoints were progression-free survival (PFS), time to failure (TTF), overall survival (OS), disease control rate (DCR), and adverse events (AEs)...
December 2, 2016: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/27913469/can-we-make-a-better-match-or-mismatch-with-kir-genotyping
#11
Rohtesh S Mehta, Katayoun Rezvani
Natural killer (NK) cell function is regulated by a fine balance between numerous activating and inhibitory receptors, of which killer-cell immunoglobulin-like receptors (KIRs) are among the most polymorphic and comprehensively studied. KIRs allow NK cells to recognize downregulation or the absence of HLA class I molecules on target cells (known as missing-self), a phenomenon that is commonly observed in virally infected cells or cancer cells. Because KIR and HLA genes are located on different chromosomes, in an allogeneic environment such as after hematopoietic stem cell transplantation, donor NK cells that express an inhibitory KIR for an HLA class I molecule that is absent on recipient targets (KIR/KIR-ligand mismatch), can recognize and react to this missing self and mediate cytotoxicity...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27911851/inherited-variants-affecting-rna-editing-may-contribute-to-ovarian-cancer-susceptibility-results-from-a-large-scale-collaboration
#12
Jennifer B Permuth, Brett Reid, Madalene Earp, Y Ann Chen, Alvaro N A Monteiro, Zhihua Chen, Aocs Study Group, Georgia Chenevix-Trench, Peter A Fasching, Matthias W Beckmann, Diether Lambrechts, Adriaan Vanderstichele, Els Van Niewenhuyse, Ignace Vergote, Mary Anne Rossing, Jennifer Anne Doherty, Jenny Chang-Claude, Kirsten Moysich, Kunle Odunsi, Marc T Goodman, Yurii B Shvetsov, Lynne R Wilkens, Pamela J Thompson, Thilo Dörk, Natalia Bogdanova, Ralf Butzow, Heli Nevanlinna, Liisa Pelttari, Arto Leminen, Francesmary Modugno, Robert P Edwards, Roberta B Ness, Joseph Kelley, Florian Heitz, Beth Karlan, Jenny Lester, Susanne K Kjaer, Allan Jensen, Graham Giles, Michelle Hildebrandt, Dong Liang, Karen H Lu, Xifeng Wu, Douglas A Levine, Maria Bisogna, Andrew Berchuck, Daniel W Cramer, Kathryn L Terry, Shelley S Tworoger, Elizabeth M Poole, Elisa V Bandera, Brooke Fridley, Julie Cunningham, Stacey J Winham, Sara H Olson, Irene Orlow, Line Bjorge, Lambertus A Kiemeney, Leon Massuger, Tanja Pejovic, Melissa Moffitt, Nhu Le, Linda S Cook, Angela Brooks-Wilson, Linda E Kelemen, Jacek Gronwald, Jan Lubinski, Nicolas Wentzensen, Louise A Brinton, Jolanta Lissowska, Hanna Yang, Estrid Hogdall, Claus Hogdall, Lene Lundvall, Paul D P Pharoah, Honglin Song, Ian Campbell, Diana Eccles, Iain McNeish, Alice Whittemore, Valerie McGuire, Weiva Sieh, Joseph Rothstein, Catherine M Phelan, Harvey Risch, Steven Narod, John McLaughlin, Hoda Anton-Culver, Argyrios Ziogas, Usha Menon, Simon Gayther, Susan J Ramus, Aleksandra Gentry-Maharaj, Celeste Leigh Pearce, Anna H Wu, Jolanta Kupryjanczyk, Agnieszka Dansonka-Mieszkowska, Joellen M Schildkraut, Jin Q Cheng, Ellen L Goode, Thomas A Sellers
RNA editing in mammals is a form of post-transcriptional modification in which adenosine is converted to inosine by the adenosine deaminases acting on RNA (ADAR) family of enzymes. Based on evidence of altered ADAR expression in epithelial ovarian cancers (EOC), we hypothesized that single nucleotide polymorphisms (SNPs) in ADAR genes modify EOC susceptibility, potentially by altering ovarian tissue gene expression. Using directly genotyped and imputed data from 10,891 invasive EOC cases and 21,693 controls, we evaluated the associations of 5,303 SNPs in ADAD1, ADAR, ADAR2, ADAR3, and SND1...
July 12, 2016: Oncotarget
https://www.readbyqxmd.com/read/27911277/gstm1-and-gstt1-polymorphisms-are-associated-with-increased-bladder-cancer-risk-evidence-from-updated-meta-analysis
#13
Cui Yu, Chen Hequn, Liu Longfei, Wang Long, Chen Zhi, Zeng Feng, Chen Jinbo, Li Chao, Zu Xiongbing
BACKGROUND: Previous studies have indicated association between GSTM1 and GSTT1 gene polymorphisms and bladder cancer susceptibility, but the results have been inconclusive. Here, we performed a meta-analysis to investigate the association between GSTM1/GSTT1 deletion polymorphisms and bladder cancer susceptibility. METHODS: We searched for all studies investigating the association between GSTM1 or GSTT1 polymorphism and bladder cancer susceptibility in Pubmed, Web of Knowledge, and the Cochrane Central Search Library...
November 29, 2016: Oncotarget
https://www.readbyqxmd.com/read/27908619/correlation-of-dna-repair-gene-polymorphisms-with-clinical-outcome-in-patients-with-locally-advanced-non-small-cell-lung-cancer-receiving-induction-chemotherapy-followed-by-surgery
#14
Mariacarmela Santarpia, Jose Luis Ramirez, Itziar de Aguirre, Pilar Garrido, Maria Pérez Cano, Cristina Queralt, Jose Luis Gonzalez-Larriba, Amelia Insa, Mariano Provencio, Dolores Isla, Carlos Camps, Remei Blanco, Teresa Moran, Rafael Rosell
OBJECTIVE: The aim of this study was to evaluate whether xeroderma pigmentosum group D (XPD) and ribonucleotide reductase subunit M1 (RRM1) polymorphisms influenced clinical outcome in patients with stage IIIA-B non-small-cell lung cancer (NSCLC) treated with neoadjuvant gemcitabine/cisplatin/docetaxel followed by surgery. MATERIALS AND METHODS: A total of 109 patients with stage IIIA and IIIB NSCLC were prospectively genotyped to examine a potential association between XPD 312 (aspartic acid [Asp]/asparagine [Asn]), XPD 751 (lysine [Lys]/glutamine [Gln]), and RRM1 (-37 C/A) polymorphisms with response and survival...
November 9, 2016: Clinical Lung Cancer
https://www.readbyqxmd.com/read/27908419/selenium-levels-in-human-breast-carcinoma-tissue-are-associated-with-a-common-polymorphism-in-the-gene-for-selenop-selenoprotein-p
#15
Dede N Ekoue, Sofia Zaichick, Klara Valyi-Nagy, Matthew Picklo, Craig Lacher, Kent Hoskins, Michael A Warso, Marcelo G Bonini, Alan M Diamond
Selenium supplementation of the diets of rodents has consistently been shown to suppress mammary carcinogenesis and some, albeit not all, human epidemiological studies have indicated an inverse association between selenium and breast cancer risk. In order to better understand the role selenium plays in breast cancer, 30 samples of tumor tissue were obtained from women with breast cancer and analyzed for selenium concentration, the levels of several selenium-containing proteins and the levels of the MnSOD anti-oxidant protein...
January 2017: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/27907911/genetic-variants-in-the-znf208-gene-are-associated-with-esophageal-cancer-in-a-chinese-han-population
#16
Huijie Wang, Jianzhong Yu, Yanling Guo, Zhengxing Zhang, Guoqi Liu, Jingjie Li, Xiyang Zhang, Tianbo Jin, Zhaoxia Wang
Previous studies showed an association between the ZNF208 gene and gastric cancer. In this study, we investigated the association between single nucleotide polymorphisms (SNPs) in ZNF208 and the risk of esophageal cancer in a Chinese Han population. We conducted a case-control study that included 386 cases and 495 controls. Five SNPs were selected from previous genome-wide association studies and genotyped using the Sequenom MassARRAY platform. Unconditional logistic regression was used to calculate odds ratios and 95% confidence intervals after adjustment for age and gender...
November 19, 2016: Oncotarget
https://www.readbyqxmd.com/read/27907203/tp53-polymorphisms-and-colorectal-cancer-risk-in-patients-with-lynch-syndrome-in-taiwan-a-retrospective-cohort-study
#17
Abram Bunya Kamiza, Ling-Ling Hsieh, Reiping Tang, Huei-Tzu Chien, Chih-Hsiung Lai, Li-Ling Chiu, Tsai-Ping Lo, Kuan-Yi Hung, Jeng-Fu You, Wen-Chang Wang, Chao A Hsiung, Chih-Ching Yeh
BACKGROUND AND AIM: TP53 encodes p53, which has a crucial role in modulating genes that regulate defense against cancer development. This study investigated whether TP53 polymorphisms are associated with colorectal cancer (CRC) in patients with Lynch syndrome and whether TP53 interacts with lifestyle factors to modify CRC risk. METHODS: We identified 260 MLH1 and MSH2 germline mutation carriers from the Taiwan Hereditary Nonpolyposis Colorectal Cancer Consortium...
2016: PloS One
https://www.readbyqxmd.com/read/27906459/integrative-genomic-analysis-identifies-ancestry-related-expression-quantitative-trait-loci-on-dna-polymerase-%C3%AE-and-supports-the-association-of-genetic-ancestry-with-survival-disparities-in-head-and-neck-squamous-cell-carcinoma
#18
Meganathan P Ramakodi, Karthik Devarajan, Elizabeth Blackman, Denise Gibbs, Danièle Luce, Jacqueline Deloumeaux, Suzy Duflo, Jeffrey C Liu, Ranee Mehra, Rob J Kulathinal, Camille C Ragin
BACKGROUND: African Americans with head and neck squamous cell carcinoma (HNSCC) have a lower survival rate than whites. This study investigated the functional importance of ancestry-informative single-nucleotide polymorphisms (SNPs) in HNSCC and also examined the effect of functionally important genetic elements on racial disparities in HNSCC survival. METHODS: Ancestry-informative SNPs, RNA sequencing, methylation, and copy number variation data for 316 oral cavity and laryngeal cancer patients were analyzed across 178 DNA repair genes...
December 1, 2016: Cancer
https://www.readbyqxmd.com/read/27905519/the-impact-of-dna-damage-response-gene-polymorphisms-on-therapeutic-outcomes-in-late-stage-ovarian-cancer
#19
F Guffanti, R Fruscio, E Rulli, G Damia
Late stage epithelial ovarian cancer has a dismal prognosis. Identification of pharmacogenomic markers (i.e. polymorphisms) to stratify patients to optimize individual therapy is of paramount importance. We here report the retrospective analysis of polymorphisms in 5 genes (ATM, ATR, Chk1, Chk2 and CDK12) involved in the cellular response to platinum in a cohort of 240 cancer patients with late stage ovarian cancer. The aim of the present study was to evaluate associations between the above mentioned SNPs and patients' clinical outcomes: overall survival (OS) and progression free survival (PFS)...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27904710/the-comt-rs165599-gene-polymorphism-contributes-to-chemotherapy-induced-cognitive-impairment-in-breast-cancer-patients
#20
Huaidong Cheng, Wen Li, Chen Gan, Bo Zhang, Qianqian Jia, Kai Wang
The present study aimed to investigate the effect of genetic polymorphisms of catechol-O-methyl transferase (COMT), apolipoprotein E (APOE), and brain derived neurotrophic factor (BDNF) on the modulation of the chemotherapy-induced cognitive impairment (CICI) in breast cancer patients. Eighty triple negative breast cancer (TNBC) and 165 non-triple negative breast cancer (NTNBC) patients were selected, and subjected to a number of neuropsychological tests, including memory questionnaires, before and after chemotherapy...
2016: American Journal of Translational Research
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