keyword
MENU ▼
Read by QxMD icon Read
search

Alleles

keyword
https://www.readbyqxmd.com/read/28651212/ar-c-106t-gene-polymorphism-and-diabetic-nephropathy-in-the-eastern-asians-with-t2dm-a-meta-analysis-including-2120-subjects
#1
Yan-Yan Li, Hui Wang, Xin-Xing Yang, Hong-Yu Geng, Ge Gong, Xin-Zheng Lu
BACKGROUND: Aldose reductase (AR) gene C-106T polymorphism may be associated with diabetic nephropathy (DN) susceptibility, but the results of individual studies remain controversial. OBJECTIVE AND METHODS: To explore the relationship between AR gene C-106T gene polymorphism and DN in the Eastern Asians with type 2 diabetes mellitus (T2DM) population, we conducted a meta-analysis of 2120 participants from 5 studies. Pooled odds ratio (ORs) and the corresponding 95% confidence interval (95% CI) were evaluated by either a fixed or random-effects models...
June 15, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28651128/local-up-regulation-of-interferon-%C3%AE-ifn-%C3%AE-following-disc-herniation-is-involved-in-the-inflammatory-response-underlying-acute-lumbar-radicular-pain
#2
Gunn-Helen Moen, Aurora Moen, Elina I Schistad, Johannes Gjerstad
Lumbar radicular pain after disc herniation may be associated with release of pro-inflammatory cytokines from nucleus pulposus (NP) tissue. In the present study we examined the role of interferon-γ (IFN-γ) and cluster of differentiation 68 (CD68) in the acute phase of this process. First, in an animal model mimicking the clinical situation after disc herniation, the role of IFN-γ close to the dorsal nerve roots was studied. Next, in patients with lumbar radicular pain due to disc herniation, we examined how two single nucleotide polymorphisms (SNPs; rs2069705 and rs2069718) are important for the IFN-γ expression influenced the pain behavior...
June 23, 2017: Cytokine
https://www.readbyqxmd.com/read/28651127/vascular-endothelial-growth-factor-single-nucleotide-polymorphisms-and-haplotypes-in-pre-eclampsia-a-case-control-study
#3
REVIEW
Marwa Ben Ali Gannoun, Safa A Al-Madhi, Hedia Zitouni, Nozha Raguema, Sawsen Meddeb, Feten Hachena Ben Ali, Touhami Mahjoub, Wassim Y Almawi
An association between vascular endothelial growth factor (VEGFA) gene variants and altered VEGF secretion and preeclampsia (PE) were described, often with inconclusive findings. An ethnic contribution to the association of VEGFA polymorphisms with PE and its associated features was also suggested. To investigate whether common VEGFA single nucleotide polymorphisms (SNP) are linked with PE and associated features in Tunisian women. A case-control study involving 300 women with PE, and 300 age-matched control women...
June 23, 2017: Cytokine
https://www.readbyqxmd.com/read/28651097/population-and-performance-analyses-of-four-major-populations-with-illumina-s-fgx-forensic-genomics-system
#4
Jennifer D Churchill, Nicole M M Novroski, Jonathan L King, Lay Hong Seah, Bruce Budowle
The MiSeq FGx Forensic Genomics System (Illumina) enables amplification and massively parallel sequencing of 59 STRs, 94 identity informative SNPs, 54 ancestry informative SNPs, and 24 phenotypic informative SNPs. Allele frequency and population statistics data were generated for the 172 SNP loci included in this panel on four major population groups (Chinese, African Americans, US Caucasians, and Southwest Hispanics). Single-locus and combined random match probability values were generated for the identity informative SNPs...
June 17, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28650999/an-ancestral-haplotype-of-the-human-period2-gene-associates-with-reduced-sensitivity-to-light-induced-melatonin-suppression
#5
Tokiho Akiyama, Takafumi Katsumura, Shigeki Nakagome, Sang-Il Lee, Keiichiro Joh, Hidenobu Soejima, Kazuma Fujimoto, Ryosuke Kimura, Hajime Ishida, Tsunehiko Hanihara, Akira Yasukouchi, Yoko Satta, Shigekazu Higuchi, Hiroki Oota
Humans show various responses to the environmental stimulus in individual levels as "physiological variations." However, it has been unclear if these are caused by genetic variations. In this study, we examined the association between the physiological variation of response to light-stimulus and genetic polymorphisms. We collected physiological data from 43 subjects, including light-induced melatonin suppression, and performed haplotype analyses on the clock genes, PER2 and PER3, exhibiting geographical differentiation of allele frequencies...
2017: PloS One
https://www.readbyqxmd.com/read/28650991/distinguishing-functional-polymorphism-from-random-variation-in-the-sequences-of-10-000-hla-a-b-and-c-alleles
#6
James Robinson, Lisbeth A Guethlein, Nezih Cereb, Soo Young Yang, Paul J Norman, Steven G E Marsh, Peter Parham
HLA class I glycoproteins contain the functional sites that bind peptide antigens and engage lymphocyte receptors. Recently, clinical application of sequence-based HLA typing has uncovered an unprecedented number of novel HLA class I alleles. Here we define the nature and extent of the variation in 3,489 HLA-A, 4,356 HLA-B and 3,111 HLA-C alleles. This analysis required development of suites of methods, having general applicability, for comparing and analyzing large numbers of homologous sequences. At least three amino-acid substitutions are present at every position in the polymorphic α1 and α2 domains of HLA-A, -B and -C...
June 26, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28650958/dynamics-and-impact-of-homologous-recombination-on-the-evolution-of-legionella-pneumophila
#7
Sophia David, Leonor Sánchez-Busó, Simon R Harris, Pekka Marttinen, Christophe Rusniok, Carmen Buchrieser, Timothy G Harrison, Julian Parkhill
Legionella pneumophila is an environmental bacterium and the causative agent of Legionnaires' disease. Previous genomic studies have shown that recombination accounts for a high proportion (>96%) of diversity within several major disease-associated sequence types (STs) of L. pneumophila. This suggests that recombination represents a potentially important force shaping adaptation and virulence. Despite this, little is known about the biological effects of recombination in L. pneumophila, particularly with regards to homologous recombination (whereby genes are replaced with alternative allelic variants)...
June 26, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28650933/cyp2e1-gene-polymorphisms-related-to-the-formation-of-coronary-artery-lesions-in-kawasaki-disease
#8
Ling-Sai Chang, Yu-Wen Hsu, Chien-Chang Lu, Mao-Hung Lo, Kai-Sheng Hsieh, Sung-Chou Li, Wei-Chiao Chang, Ho-Chang Kuo
BACKGROUND: Kawasaki disease (KD) is an acute febrile systemic vasculitis that disturbs coronary arteries. Patients' risks of adverse cardiovascular events and subclinical atherosclerosis have been found to significantly increase with polymorphisms of the human cytochrome P450. This current study aims to research the possible relationship between Cytochrome P450, Family 2, Subfamily E, and Polypeptide 1 (CYP2E1) polymorphisms with KD. METHODS: We selected six tag single-nucleotide polymorphisms (tSNPs) of the CYP2E1 gene for TaqMan allelic discrimination assay in 340 KD patients and performed analysis on the clinical phenotypes and coronary artery lesions (CAL)...
June 23, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28650708/genetic-polymorphisms-of-tumor-necrosis-factor-alpha-and-susceptibility-to-dengue-virus-infection-in-a-mexican-population
#9
Marina Sánchez-Leyva, Jorge Guillermo Sánchez-Zazueta, Juan Fidel Osuna-Ramos, Horacio Rendón-Aguilar, Rafael Félix-Espinoza, Denisse Stephania Becerra-Loaiza, Dulce Carolina Sánchez-García, José Geovanni Romero-Quintana, Hipolito Castillo Ureta, Ismael Velarde-Rodríguez, Jesús Salvador Velarde-Félix
To evaluate the association of the -308 and -238 tumor necrosis factor alpha (TNF-α) gene polymorphisms with clinical manifestations of dengue and TNF-α serum levels in a northwestern Mexican population. The study populations included dengue fever (DF) and dengue hemorrhagic fever (DHF) patients, and a group of healthy controls (HCs) without history of dengue. Polymerase chain reaction-restriction fragment length polymorphism and Enzyme-Linked Immunosorbent Assay were performed to determine genotypes and serum concentration of TNF-α, respectively...
June 26, 2017: Viral Immunology
https://www.readbyqxmd.com/read/28650671/association-of-ccr2-190-g-a-gene-variants-and-ovarian-cancer-severity
#10
Gazi Yildirim, Rukset Attar, Seda Gulec-Yilmaz, Selvi Duman, Turgay Isbir
AIM: Chemokines and their receptors play an important role in tumor progression. In the current study, we aimed to determine the association between the CCR2 gene (+190 G/A) polymorphism and ovarian cancer severity. METHODS: CCR2 (+190 G/A) genotyping was performed using real-time polymerase chain reaction for DNA isolated from blood samples from a cohort of patients with ovarian cancer (n = 44) and a control group (n = 45). RESULTS: The CCR2 (+190 G/A) GG genotype frequencies for patients were significantly higher in the stage III-IV cancer group (p = 0...
June 26, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28650670/the-sdf1-a-g-gene-variant-a-susceptibility-variant-for-myocardial-infarction
#11
Yaser Mansoori, Abdolreza Daraei, Zahra Zendebad, Farzan Madadizadeh, Behnam Mansoori, Mohammad Mehdi Naghizadeh, Farzaneh Darbeheshti
BACKGROUND: Although environmental factors play an important role in susceptibility to myocardial infarction (MI), genetic determinants also provide a significant contribution. This study aimed to determine whether or not MI susceptibility is influenced by SDF1-rs1801157A/G and HHEX-rs1111875 A/G polymorphisms in an Iranian population. METHODS: A total of 120 patients with MI and 120 healthy controls were enrolled. Blood samples were collected from all the participants for genomic DNA extraction and testing...
June 26, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28650667/gender-specific-association-between-fgfr4-gly388arg-gene-variants-and-hypertension
#12
Nasser M Al-Daghri, Abdul Khader Mohammed, Omar S Al-Attas, Hossam M Draz, Majed S Alokail
AIMS: Variations in fibroblast growth factor (FGF) levels have been associated with alterations in blood pressure. FGFs mediate their function through binding to their FGF receptor (FGFR). FGFR4 Gly388Arg polymorphism is associated with cancer and cardiovascular diseases, but its association with hypertension is unclear. Here, we aimed to investigate the association between FGFR4 Gly388Arg polymorphism and hypertension. MATERIALS AND METHODS: Three hundred Saudi individuals (150 normotensive controls and 150 hypertensive subjects) were genotyped for FGFR4 Gly388Arg (G/A) polymorphism using polymerase chain reaction-restriction fragment length polymorphism method...
June 26, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28650456/a-tripartite-complex-of-supar-apol1-risk-variants-and-%C3%AE-v%C3%AE-3-integrin-on-podocytes-mediates-chronic-kidney-disease
#13
Salim S Hayek, Kwi Hye Koh, Morgan E Grams, Changli Wei, Yi-An Ko, Jing Li, Beata Samelko, Hyun Lee, Ranadheer R Dande, Ha Won Lee, Eunsil Hahm, Vasil Peev, Melissa Tracy, Nicholas J Tardi, Vineet Gupta, Mehmet M Altintas, Garrett Garborcauskas, Nikolina Stojanovic, Cheryl A Winkler, Michael S Lipkowitz, Adrienne Tin, Lesley A Inker, Andrew S Levey, Martin Zeier, Barry I Freedman, Jeffrey B Kopp, Karl Skorecki, Josef Coresh, Arshed A Quyyumi, Sanja Sever, Jochen Reiser
Soluble urokinase plasminogen activator receptor (suPAR) independently predicts chronic kidney disease (CKD) incidence and progression. Apolipoprotein L1 (APOL1) gene variants G1 and G2, but not the reference allele (G0), are associated with an increased risk of CKD in individuals of recent African ancestry. Here we show in two large, unrelated cohorts that decline in kidney function associated with APOL1 risk variants was dependent on plasma suPAR levels: APOL1-related risk was attenuated in patients with lower suPAR, and strengthened in those with higher suPAR levels...
June 26, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28650341/two-rheumatoid-arthritis-specific-autoantigens-correlate-microbial-immunity-with-autoimmune-responses-in-joints
#14
Annalisa Pianta, Sheila L Arvikar, Klemen Strle, Elise E Drouin, Qi Wang, Catherine E Costello, Allen C Steere
In rheumatoid arthritis (RA), immunological triggers at mucosal sites, such as the gut microbiota, may promote autoimmunity that affects joints. Here, we used discovery-based proteomics to detect HLA-DR-presented peptides in synovia or peripheral blood mononuclear cells and identified 2 autoantigens, N-acetylglucosamine-6-sulfatase (GNS) and filamin A (FLNA), as targets of T and B cell responses in 52% and 56% of RA patients, respectively. Both GNS and FLNA were highly expressed in synovia. GNS appeared to be citrullinated, and GNS antibody values correlated with anti-citrullinated protein antibody (ACPA) levels...
June 26, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28650150/genome-wide-association-mapping-of-seed-coat-color-in-brassica-napus
#15
Jia Wang, Xiaohua Xian, Xinfu Xu, Cunmin Qu, Kun Lu, Jiana Li, Liezhao Liu
Seed coat color is an extremely important breeding characteristic of Brassica napus. To elucidate the factors affecting the genetic architecture of seed coat color, a genome-wide association study (GWAS) of seed coat color was conducted with a diversity panel comprising 520 B. napus cultivars and inbred lines. In total, 22 single-nucleotide polymorphisms (SNPs) distributed on 7 chromosomes were found to be associated with seed coat color. The most significant SNPs were found in 2014 near Bn-scaff_15763_1-p233999, only 43...
June 26, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/28649982/structural-and-regulatory-diversity-shape-hla-c-protein-expression-levels
#16
Gurman Kaur, Stephanie Gras, Jesse I Mobbs, Julian P Vivian, Adrian Cortes, Thomas Barber, Subita Balaram Kuttikkatte, Lise Torp Jensen, Kathrine E Attfield, Calliope A Dendrou, Mary Carrington, Gil McVean, Anthony W Purcell, Jamie Rossjohn, Lars Fugger
Expression of HLA-C varies widely across individuals in an allele-specific manner. This variation in expression can influence efficacy of the immune response, as shown for infectious and autoimmune diseases. MicroRNA binding partially influences differential HLA-C expression, but the additional contributing factors have remained undetermined. Here we use functional and structural analyses to demonstrate that HLA-C expression is modulated not just at the RNA level, but also at the protein level. Specifically, we show that variation in exons 2 and 3, which encode the α1/α2 domains, drives differential expression of HLA-C allomorphs at the cell surface by influencing the structure of the peptide-binding cleft and the diversity of peptides bound by the HLA-C molecules...
June 26, 2017: Nature Communications
https://www.readbyqxmd.com/read/28649645/a-functionally-significant-snp-in-tp53-and-breast-cancer-risk-in-african-american-women
#17
Maureen E Murphy, Song Liu, Song Yao, Dezheng Huo, Qin Liu, Sonia C Dolfi, Kim M Hirshfield, Chi-Chen Hong, Qiang Hu, Andrew F Olshan, Temidayo O Ogundiran, Clement Adebamowo, Susan M Domchek, Katherine L Nathanson, Barbara Nemesure, Stefan Ambs, William J Blot, Ye Feng, Esther M John, Leslie Bernstein, Wei Zheng, Jennifer J Hu, Regina G Ziegler, Sarah Nyante, Sue A Ingles, Michael F Press, Sandra L Deming, Jorge L Rodriguez-Gil, Christopher A Haiman, Olufunmilayo I Olopade, Kathryn L Lunetta, Julie R Palmer, Christine B Ambrosone
A coding region polymorphism exists in the TP53 gene (Pro47Ser; rs1800371) in individuals of African descent, which reduces p53 tumor suppressor function in a mouse model. It has been unclear whether this functionally significant polymorphism alters cancer risk in humans. This analysis included 6907 women with breast cancer and 7644 controls from the AMBER, ROOT, and AABC consortia. We used multivariable logistic regression to estimate associations between the TP53 Pro47Ser allele and overall breast cancer risk...
2017: NPJ Breast Cancer
https://www.readbyqxmd.com/read/28649487/rapid-decrease-of-circulating-tumor-dna-predicted-the-treatment-effect-of-nivolumab-in-a-lung-cancer-patient-within-only-5-days
#18
Yuki Iijima, Yosuke Hirotsu, Kenji Amemiya, Seishi Higashi, Yoshihiro Miyashita, Masao Omata
A 77-year-old Japanese man presented to our hospital with a 1-month history of low back pain and was diagnosed as having stage IV EGFR mutation-positive lung adenocarcinoma. After treatment with EGFR tyrosine kinase inhibitor and cytotoxic chemotherapy, nivolumab was started as fourth-line therapy. Remarkable regression of the primary tumor was observed, suggesting high anti-tumor activity of nivolumab. We retrospectively investigated the change in circulating tumor DNA (ctDNA) variant allele fractions in serial plasma samples before and after the nivolumab therapy...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28649356/asymmetric-paternal-effect-on-offspring-size-linked-to-parent-of-origin-expression-of-an-insulin-like-growth-factor
#19
Yolitzi Saldivar Lemus, Jean-Philippe Vielle-Calzada, Michael G Ritchie, Constantino Macías Garcia
Sexual reproduction brings together reproductive partners whose long-term interests often differ, raising the possibility of conflict over their reproductive investment. Males that enhance maternal investment in their offspring gain fitness benefits, even if this compromises future reproductive investment by iteroparous females. When the conflict occurs at a genomic level, it may be uncovered by crossing divergent populations, as a mismatch in the coevolved patterns of paternal manipulation and maternal resistance may generate asymmetric embryonic growth...
June 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28649334/population-structure-in-chicory-cichorium-intybus-a-successful-u-s-weed-since-the-american-revolutionary-war
#20
Tomáš Závada, Rondy J Malik, Rick V Kesseli
Plant invasions are recognized as major drivers of ecosystem change, yet the precise cause of these invasions remains unknown for many species. Frequency and modes of introductions during the first, transport and colonization, stages of the invasion process as well as phenotypic changes due to plasticity or changing genetic diversity and adaptation during later establishment and expansion stages can all influence the "success" of invasion. Here, we examine some of these factors in, and the origin of, a very successful weed, Cichorium intybus (chicory) which was introduced to North America in the 18th century and which now can be found in all 48 continental U...
June 2017: Ecology and Evolution
keyword
keyword
25649
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"