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International Journal of Molecular Epidemiology and Genetics

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https://www.readbyqxmd.com/read/27766139/methodology-for-single-nucleotide-polymorphism-selection-in-promoter-regions-for-clinical-use-an-example-of-its-applicability
#1
Herlander Marques, José Freitas, Rui Medeiros, Adhemar Longatto-Filho
Genetic variability in humans can explain many differences in disease risk factors. Polymorphism-related studies focus mainly on the single nucleotide polymorphisms (SNPs) of coding regions of the genes. SNPs on DNA binding motifs of the promoter region have been less explored. On a recent study of SNPs in patients with non-Hodgkin lymphomas we faced the problem of SNP selection from promoter regions and developed a practical methodology for clinical studies. The process consists in identifying SNPs in the coding and promoter regions of the antigen-processing system using the 'dbSNP' database...
2016: International Journal of Molecular Epidemiology and Genetics
https://www.readbyqxmd.com/read/27766138/association-between-vascular-endothelial-growth-factor-936c-t-polymorphism-and-breast-cancer-risk-a-meta-analysis-of-18-case-control-studies
#2
Danhui Huang, Jianhua Wu, Zhenya Sun, Senlin Huang, Yuzhao Zhang, Lingling Wang, Tao Zeng
Important in angiogenesis, vascular endothelial growth factor (VEGF) acts as a biomarker in the growth of and prognosis for breast cancer. Evidence suggests that single nucleotide polymorphisms of VEGF such as +936C/T (rs3025039) effects VEGF levels; however, current studies on the association between +936C/T and breast cancer risk are inconsistent. This meta-analysis was conducted to reach a more precise conclusion about this association. PubMed was searched for case-control studies on the association between +936C/T levels and breast cancer risk...
2016: International Journal of Molecular Epidemiology and Genetics
https://www.readbyqxmd.com/read/27766137/epidemiology-of-colorectal-cancer
#3
Andrew R Marley, Hongmei Nan
Colorectal cancer is currently the third deadliest cancer in the United States and will claim an estimated 49,190 U.S. lives in 2016. The purpose of this review is to summarize our current understanding of this disease, based on nationally published statistics and information presented in peer-reviewed journal articles. Specifically, this review will cover the following topics: descriptive epidemiology (including time and disease trends both in the United States and abroad), risk factors (environmental, genetic, and gene-environment interactions), screening, prevention and control, and treatment...
2016: International Journal of Molecular Epidemiology and Genetics
https://www.readbyqxmd.com/read/27335628/a-prospective-and-retrospective-analysis-of-smoking-behavior-changes-in-ever-smokers-with-high-risk-for-lung-cancer-from-new-mexico-and-pennsylvania
#4
Shuguang Leng, Joel L Weissfeld, Maria A Picchi, Mindi A Styn, Eric D Claus, Vincent P Clark, Guodong Wu, Cynthia L Thomas, Frank D Gilliland, Jianmin Yuan, Jill M Siegfried, Steven A Belinsky
Cigarette smoking is the leading preventable cause of death worldwide. The aim of this study is to conduct a prospective and retrospective analysis of smoking behavior changes in the Lovelace Smokers Cohort (LSC) and the Pittsburgh Lung Screening Study cohort (PLuSS). Area under the curve (AUC) for risk models predicting relapse based on demographic, smoking, and relevant clinical variables was 0.93 and 0.79 in LSC and PLuSS, respectively. The models for making a quit attempt had limited prediction ability in both cohorts (AUC≤0...
2016: International Journal of Molecular Epidemiology and Genetics
https://www.readbyqxmd.com/read/27335627/association-of-pecam1-cd31-polymorphisms-with-cerebral-malaria
#5
Jun Ohashi, Izumi Naka, Hathairad Hananantachai, Jintana Patarapotikul
Platelet/endothelial cell adhesion molecule-1 (PECAM1/CD31), a receptor recognized by P. falciparum-infected red blood cells (iRBCs), on the vascular endothelium has been implicated in mediating cytoadherence in patients with P. falciparum malaria. To examine associations of PECAM1 polymorphisms with cerebral malaria, 11 tag single nucleotide polymorphisms (SNPs) of PECAM1 were analysed for 312 Thai patients with P. falciparum malaria (109 with cerebral malaria and 203 with mild malaria). The rs1122800-C allele was significantly associated with protection from cerebral malaria (P = 0...
2016: International Journal of Molecular Epidemiology and Genetics
https://www.readbyqxmd.com/read/27186332/soluble-vascular-endothelial-growth-factor-receptors-2-svegfr-2-and-3-svegfr-3-and-breast-cancer-risk-in-the-swedish-mammography-cohort
#6
Holly Harris, Alicja Wolk, Anders Larsson, Marie-Paule Vasson, Samar Basu
Vascular endothelial growth factor (VEGF) is a signalling protein that has been established as a contributor to tumor angiogenesis, and expression of VEGF and its soluble receptors (sVEGFR2 and sVEGFR3) have been demonstrated in breast cancer cells. However, no prospective studies have examined the association between prediagnostic sVEGFR levels and breast cancer risk. We conducted a prospective case-control study nested within the Swedish Mammography Cohort examining the association between sVEGFR2 and 3 levels and breast cancer risk...
2016: International Journal of Molecular Epidemiology and Genetics
https://www.readbyqxmd.com/read/27186331/prevalence-of-common-vitamin-d-receptor-gene-polymorphisms-in-hiv-infected-and-uninfected-south-africans
#7
Lynne McNamara, Simbarashe Takuva, Tobias Chirwa, Patrick MacPhail
BACKGROUND: Host genetic factors may a play role in susceptibility to infection. Vitamin-D is an immunomodulator that may play a role in HIV infection. Vitamin-D action is mediated by the vitamin-D receptor. We establish prevalence of ApaI, BsmI, FokI and TaqI polymorphisms (VDRPs) amongst a black southern African HIV+ve population and investigate polymorphic differences between HIV+ve and -ve people. METHODS: Seventy-nine sex and age-group matched HIV+ve patients of African origin initiating antiretroviral therapy (ART) and 79 HIV-ve participants, also of African origin, were recruited from a public sector HIV testing and treatment clinic and investigated for the 4 polymorphisms...
2016: International Journal of Molecular Epidemiology and Genetics
https://www.readbyqxmd.com/read/27186330/dyslipidemia-insulin-resistance-and-dietary-fat-intake-in-obese-and-normal-weight-adolescents-the-role-of-uncoupling-protein-2-866g-a-gene-polymorphism
#8
Emy Huriyati, Harry F Luglio, Prima D Ratrikaningtyas, Ahmad Fa Tsani, Ahmad H Sadewa, Mohammad Juffrie
Obesity in adolescents has been associated with increased cardiovascular risk factors such as dyslipidemia and insulin resistance. Several factors have been proposed to be associated with cardiovascular risk factors in adolescents including dietary habit, physical activity and genetic. This study was aimed to evaluate the interaction between genetic variation and dietary intake on cardiovascular metabolic risk factors in obese and normal weight adolescents. The UCP2 gene was chosen because it was previously correlated with dietary intake and cardiovascular risk factors...
2016: International Journal of Molecular Epidemiology and Genetics
https://www.readbyqxmd.com/read/27186329/genetic-polymorphism-at-codon-546-of-the-human-rad17-contributes-to-the-risk-for-esophageal-squamous-cell-carcinoma
#9
Yukiko Yasuda, Akiko Sakai, Sachio Ito, Yuichiro Mita, Takayuki Sonoyama, Shunsuke Tanabe, Yasuhiro Shirakawa, Yoshio Naomoto, Hiroshi Katayama, Kenji Shimizu
Human RAD17, a human homolog of the Schizosaccharomyces pombe cell cycle checkpoint gene RAD17, plays a significant role in activating checkpoint signals in response to DNA damage. We evaluated the association of hRAD17 Leu546Arg (rs1045051), a missense single nucleotide polymorphism, with the risk of esophageal squamous cell carcinoma in relation to smoking and alcohol consumption history in 154 esophageal squamous cell carcinoma male patients and 695 cancer-free male controls by a case-control study conducted in Japan...
2016: International Journal of Molecular Epidemiology and Genetics
https://www.readbyqxmd.com/read/27186328/genes-environment-and-gene-expression-in-colon-tissue-a-pathway-approach-to-determining-functionality
#10
Martha L Slattery, Daniel F Pellatt, Roger K Wolff, Abbie Lundgreen
Genetic and environmental factors have been shown to work together to alter cancer risk. In this study we evaluate previously identified gene and lifestyle interactions in a candidate pathway that were associated with colon cancer risk to see if these interactions altered gene expression. We analyzed non-tumor RNA-seq data from 144 colon cancer patients who had genotype, recent cigarette smoking, diet, body mass index (BMI), and recent aspirin/non-steroidal anti-inflammatory use data. Using a false discovery rate of 0...
2016: International Journal of Molecular Epidemiology and Genetics
https://www.readbyqxmd.com/read/27186327/association-analysis-of-a-chemo-response-signature-identified-within-the-cancer-genome-atlas-aimed-at-predicting-genetic-risk-for-chemo-response-in-ovarian-cancer
#11
Erin A Salinas, Andreea M Newtson, Kimberly K Leslie, Jesus Gonzalez-Bosquet
BACKGROUND: A gene signature associated with chemo-response in ovarian cancer was created through integration of biological data in The Cancer Genome Atlas (TCGA) and validated in five independent microarray experiments. Our study aimed to determine if single nucleotide polymorphisms (SNPs) within the 422-gene signature were associated with a genetic predisposition to platinum-based chemotherapy response in serous ovarian cancer. METHODS: An association analysis between SNPs within the 422-gene signature and chemo-response in serous ovarian cancer was performed under the log-additive genetic model using the 'SNPassoc' package within the R environment (p<0...
2016: International Journal of Molecular Epidemiology and Genetics
https://www.readbyqxmd.com/read/27186326/placental-genetic-variations-in-circadian-clock-related-genes-increase-the-risk-of-placental-abruption
#12
Chunfang Qiu, Bizu Gelaye, Marie Denis, Mahlet G Tadesse, Daniel A Enquobahrie, Cande V Ananth, Percy N Pacora, Manuel Salazar, Sixto E Sanchez, Michelle A Williams
The genetic architecture of placental abruption (PA) remains poorly understood. We examined variations in SNPs of circadian clock-related genes in placenta with PA risk. We also explored placental and maternal genomic contributions to PA risk. Placental genomic DNA samples were isolated from 280 PA cases and 244 controls. Genotyping was performed using the Illumina Cardio-MetaboChip. We examined 116 SNPs in 13 genes known to moderate circadian rhythms. Logistic regression models were fit to estimate odds ratios (ORs)...
2016: International Journal of Molecular Epidemiology and Genetics
https://www.readbyqxmd.com/read/27186325/gnas-gene-mutation-may-be-present-only-transiently-during-colorectal-tumorigenesis
#13
Peter Zauber, Stephen P Marotta, Marlene Sabbath-Solitare
Mutations of the gene GNAS have been shown to activate the adenylate cyclase gene and lead to constitutive cAMP signaling. Several preliminary reports have suggested a role for GNAS gene mutations during colorectal carcinogenesis, particularly mucinous carcinomas. The aim of this study was to clarify the incidence of GNAS mutations in adenomas (tubular, tubulovillous, and villous), carcinomas with residual adenoma, and carcinomas, and to relate these findings to mutations of the KRAS gene and to the mucinous status of the tumors...
2016: International Journal of Molecular Epidemiology and Genetics
https://www.readbyqxmd.com/read/27186324/telomere-length-measurement-by-a-novel-luminex-based-assay-a-blinded-comparison-to-southern-blot
#14
Brandon L Pierce, Farzana Jasmine, Shantanu Roy, Chenan Zhang, Abraham Aviv, Steven C Hunt, Habibul Ahsan, Muhammad G Kibriya
Telomere length (TL) is a potential biomarker of aging and age-related disease risk. We recently published a novel Luminex-based method for high-throughput, low-cost TL measurement. Here we describe a blinded comparison of the Luminex method to Southern blot, the most precise TL measurement method. Luminex and Southern blot measurements for the same 50 DNA samples were taken in two independent laboratories; each sample was measured twice, several months apart. The inter-assay CV for Luminex ranged from 5.5 to 9...
2016: International Journal of Molecular Epidemiology and Genetics
https://www.readbyqxmd.com/read/27186323/dna-methylation-and-genetic-polymorphisms-of-the-leptin-gene-interact-to-influence-lung-function-outcomes-and-asthma-at-18-years-of-age
#15
Nandini Mukherjee, Gabrielle A Lockett, Simon K Merid, Erik Melén, Göran Pershagen, John W Holloway, Syed Hasan Arshad, Susan Ewart, Hongmei Zhang, Wilfried Karmaus
The leptin gene (LEP) plays a regulatory role in satiety, inflammation, and allergy. Prior findings linking leptin to asthma motivated us to investigate whether DNA methylation (DNA-M) of CpG (cytosine-phosphate-guanine) sites in concert with single nucleotide polymorphisms (SNPs) of LEP can explain the risk of asthma and lung function. Methylation of CpG sites was assessed using the Illumina Infinium Human Methylation 450 beadchip in blood samples collected from 10- and 18-year-old boys and girls from the Isle of Wight (IOW) birth cohort (UK)...
2016: International Journal of Molecular Epidemiology and Genetics
https://www.readbyqxmd.com/read/26417404/brief-communication-genotyping-of-burkholderia-pseudomallei-revealed-high-genetic-variability-among-isolates-from-a-single-population-group
#16
Abdelrahman Mohammad Zueter, Zaidah Abdul Rahman, Chan Yean Yean, Azian Harun
Burkholderia pseudomallei is a soil dwelling Gram-negative bacteria predominates in Southeast Asia zone and the tropical part of Australia. Genetic diversity has been explored among various populations and environments worldwide. To date, little data is available on MLST profiling of clinical B. pseudomallei isolates in peninsular Malaysia. In this brief report, thirteen culture positive B. pseudomallei cases collected from a single population of Terengganu state in the Western Peninsular Malaysia and were confirmed by In-house TTS1-PCR...
2015: International Journal of Molecular Epidemiology and Genetics
https://www.readbyqxmd.com/read/26417403/genetic-variants-in-hypothalamic-pituitary-adrenal-axis-genes-and-breast-cancer-risk-in-caucasians-and-african-americans
#17
Hongmei Nan, Joanne F Dorgan, Timothy R Rebbeck
Elevated circulating levels of the adrenal androgen dehydroepiandrosterone (DHEA) and its sulfate (DHEAS) are associated with increased breast cancer risk in prospective studies. Genetic variants in hypothalamic-pituitary-adrenal (HPA) axis genes may contribute to these circulating hormone levels, and consequently to breast cancer risk. No previous studies have examined the effects of genetic variants in HPA axis genes on breast cancer risk. We evaluated the associations of 49 single nucleotide polymorphisms (SNPs) in five HPA axis genes (NR3C1, NR3C2, CRH, CRHR1, and CRHBP) with the risk of breast cancer in the Women's Insights and Shared Experiences (WISE) Study of Caucasians (346 cases and 442 controls), as well as African Americans (149 cases and 246 controls)...
2015: International Journal of Molecular Epidemiology and Genetics
https://www.readbyqxmd.com/read/26417402/evaluations-of-life-style-factors-and-the-severity-of-gastroesophageal-reflux-disease-a-case-control-study
#18
Saba Fakhrieh Asl, Fariborz Mansour-Ghanaei, Hooman Samadi, Farahnaz Joukar
The incidence of Gastroesophageal reflux disease (GERD) has increased remarkably worldwide. This study focuses on the background features of these patients and evaluates the two GERD sub types; none erosive (NERD) and erosive (ERD). In a case-control study, patients with reflux symptoms who had obtained a total score of 8-18 of the GERD questionnaire were included. Control group consisted of their families with lower scores and no reflux presentations. All demographic features were recorded. Then upper GI endoscopy performed and the cases divided into two sub groups: NERD and ERD...
2015: International Journal of Molecular Epidemiology and Genetics
https://www.readbyqxmd.com/read/26417401/the-sirt1-promoter-polymorphic-site-rs12778366-increases-il-6-related-human-mortality-in-the-prospective-study-treviso-longeva-trelong
#19
Diego Albani, Stefano Mazzuco, Armando Chierchia, Federica Fusco, Lucia Boeri, Rosalba Martines, Enrico Di Giorgi, Andrea Frigato, Elisabetta Durante, Livio Caberlotto, Andrea Zanardo, Marinella Siculi, Maurizio Gallucci, Gianluigi Forloni
Studies on sirtuins (SIRT), a family of proteins with deacetylase activity, have provided convergent evidence of the key role of these enzymes in aging-linked physiological functions. The link between SIRT1 and longevity has emerged in model organism but few data are available in humans, in particular relying on longitudinal studies. Here, we assessed whether a genetic variant within SIRT1 gene promoter (rs12778366) was associated to human longevity. We analyzed 586 genomic DNA (gDNA) collected in the study "Treviso Longeva" (TRELONG), including elderly over 70 years of age from the municipality of Treviso, a town in the Northeast of Italy, with a 11-year follow-up...
2015: International Journal of Molecular Epidemiology and Genetics
https://www.readbyqxmd.com/read/26417400/genetic-determinants-of-uterine-fibroid-size-in-the-multiethnic-niehs-uterine-fibroid-study
#20
Brahim Aissani, Kui Zhang, Howard Wiener
We conducted a follow-up association study across extended candidate chromosomal regions for uterine leiomyoma (UL), or fibroids, to search for loci influencing the size of UL in 916 premenopausal North American women participants to the NIEHS uterine fibroid study. Proportional odds models with adjustments for confounders were fitted to evaluate the association of a final set of 2,484 single nucleotide polymorphisms (SNPs) with the size of uterine fibroids measured by transabdominal and transvaginal ultrasounds...
2015: International Journal of Molecular Epidemiology and Genetics
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