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https://www.readbyqxmd.com/read/28446001/a-post-genome-wide-association-study-validating-the-association-of-the-glycophorin-c-gene-with-serum-hemoglobin-level-in-pig
#1
Yang Liu, Zhengzheng Hu, Chen Yang, Shiwei Wang, Wenwen Wang, Qin Zhang
OBJECTIVE: This study aimed to validate the statistical evidence from the genome-wide association study (GWAS) as true-positive and to better understand the effects of the glycophorin C (GYPC) gene on serum hemoglobin traits. METHODS: Our initial GWAS revealed the presence of two single nucleotide polymorphisms (SNPs) (ASGA0069038 and ALGA0084612) for the hemoglobin concentration trait (HGB) in the 2.48 Mb region of SSC15. From this target region, GYPC was selected as a promising gene that associated with serum HGB traits in pigs...
May 2017: Asian-Australasian Journal of Animal Sciences
https://www.readbyqxmd.com/read/28445984/paraoxonase-1-gene-polymorphisms-are-associated-with-an-increased-risk-of-breast-cancer-in-a-population-of-chinese-women
#2
Junrong Wu, Min Fang, Xiaoping Zhou, Bo Zhu, Zhi Yang
In this study, we explored associations between paraoxonase 1 (PON1) L55M and Q192R gene polymorphisms and the risk of breast cancer in 365 female breast cancer patients and 378 healthy controls from the Guangxi region of southern China. The LM heterozygous and MM homozygous genotypes, as well as M carrier status and M alleles, were associated with an increased risk of breast cancer. In addition, the M allele was associated with postmenopausal status and increased nodal involvement. In contrast, none of the Q192R genotypes or alleles were associated with a change in breast cancer risk, or with any of the clinicopathological parameters...
April 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445979/the-impacts-of-single-nucleotide-polymorphisms-in-genes-of-cell-cycle-and-nf-kb-pathways-on-the-efficacy-and-acute-toxicities-of-radiotherapy-in-patients-with-nasopharyngeal-carcinoma
#3
Chengxian Guo, Yuling Huang, Jingjing Yu, Lijuan Liu, Xiaochang Gong, Min Huang, Chunling Jiang, Yulu Liao, Lihua Huang, Guoping Yang, Jingao Li
Radiotherapy is one of the primary choices for the treatment of nasopharyngeal carcinoma (NPC) and may result in severe radiotoxicities on normal tissues. Single nucleotide polymorphisms (SNPs) in genes of cell cycle and NF-κB pathways have been linked with the prognoses of various cancers. The aim of this study was to explore whether SNPs of genes involved in cell cycle and NF-κB pathways are associated with responses to radiotherapy in NPC patients. We selected 3 SNPs in cell cycle pathway and 5 SNPs in NF-κB pathway and genotyped them in 154 NPC patients treated with radiotherapy...
April 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445975/functional-fgfr4-gly388arg-polymorphism-contributes-to-cancer-susceptibility-evidence-from-meta-analysis
#4
Si-Wei Xiong, Jianqun Ma, Fen Feng, Wen Fu, Shan-Rong Shu, Tianjiao Ma, Caixia Wu, Guo-Chang Liu, Jinhong Zhu
Fibroblast growth factor receptor 4 (FGFR4) is a member of receptor tyrosine kinase family. A functional Gly388Arg (rs351855 G>A) polymorphism in FGFR4 gene causes a glycine-to-arginine change at codon 388 within the transmembrane domain of the receptor. Although the FGFR4 rs351855 G>A polymorphism has been implicated in cancer development, its association with cancer risk remains controversial. Here, we have systematically analyzed the association between the rs351855 G>A polymorphism and cancer risk by performing a meta-analysis of 27 studies consisting of 8,682 cases and 9,731 controls...
April 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445963/genetic-polymorphisms-of-bcl-2-promoter-in-cancer-susceptibility-and-prognosis-a-meta-analysis
#5
Zhongqiang Yao, Binhui Yang, Zhongqiu Liu, Wei Li, Qihua He, Xingchun Peng
Bcl-2 is critical for tumorigenesis. However, previous studies on the association of Bcl-2 promoter polymorphisms with predisposition to different cancer types are somewhat contradictory. Therefore, we performed this meta-analysis regarding the relationship between Bcl-2 promoter single nucleotide polymorphisms (SNPs) and cancer susceptibility and prognosis. Up to August 2016, 32 original publications were identified covering two Bcl-2 promoter SNPs (rs2279115 and rs1801018). Our results showed statistically significant association between rs2279115 and cancer susceptibility and prognosis in all four genetic models but not in rs1801018...
April 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445942/mmp-3-and-mmp-8-single-nucleotide-polymorphisms-are-related-to-alcohol-induced-osteonecrosis-of-the-femoral-head-in-chinese-males
#6
Junyu Chen, Wanlin Liu, Yuju Cao, Xiyang Zhang, Yongchang Guo, Yong Zhu, Jian Li, Jieli Du, Tianbo Jin, Guoqiang Wang, Jianzhong Wang
Our study investigated the association between MMP-3 and MMP-8 single-nucleotide polymorphisms (SNPs) and alcohol-induced osteonecrosis of the femoral head (ONFH) in 695 Chinese males (299 cases and 396 control subjects). The minor allele of MMP-3 rs650108 was associated with a 0.78-fold decrease in alcohol-induced ONFH risk in the allelic model (95% CI = 0.63-0.97, P = 0.026). In the genetic model adjusted for age, rs650108 was associated with decreased risk of alcohol-induced ONFH in the dominant model (OR = 0...
April 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445889/genetic-polymorphisms-in-aromatase-cyp19a1-are-not-associated-with-gonadal-phenotypes-in-red-eared-slider-turtle-hatchlings-developed-at-a-pivotal-temperature
#7
Yuiko Matsumoto, David Crews
Embryonic gonad sex in many reptilian species is determined by the incubation temperature of the egg, a differentiation process known as temperature-dependent sex determination (TSD). Incubation at the pivotal temperature (PvT) results in approximately an equal number of offspring of both sexes. We investigated the potential contribution of genetic variations that drives the gonadal differentiation into testes or ovaries under this temperature in the red-eared slider turtle (Trachemys scripta). Four male and 4 female hatchlings of eggs that had been incubated at the PvT were examined for polymorphisms at an approximately 23-kb region of the aromatase (cyp19a1) gene...
April 27, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28445878/differential-allelic-expression-of-htr1b-in-suicide-victims-genetic-and-epigenetic-effect-of-the-cis-acting-variants
#8
Ali Bani-Fatemi, Aaron Howe, Clement Zai, James L Kennedy, John Vincent, John Strauss, Albert Wong, Vincenzo De Luca
OBJECTIVES: In the present study, we tested the allelic imbalance of the C861G single nucleotide polymorphism (SNP) of HTR1B in the frontal cortex of suicide victims. METHODS: The study was conducted using 3 sets of samples. First, C861G allele-specific mRNA levels in the frontal cortex were compared between suicide (n = 13) and nonsuicide controls (n = 13) from the Stanley Medical Research postmortem brain collection. Second, we tested common variants in the HTR1B promoter for linkage disequilibrium (LD) with the C861G variant in an unrelated sample of suicide attempters (SA; n = 38) and non-SA (NSA; n = 42)...
April 27, 2017: Neuropsychobiology
https://www.readbyqxmd.com/read/28445870/klk4-gene-and-dental-decay-replication-in-a-south-brazilian-population
#9
Tayla Cavallari, Simone Tetu Moyses, Samuel Jorge Moyses, Renata Iani Werneck
OBJECTIVE: The objective of this research was to identify and replicate the participation of KLK4 gene polymorphisms in the susceptibility to dental decay. METHODS: A total of 200 patients were recruited using ICDAS criteria - 100 of them with dental caries and 100 with no history of the disease. Buccal cells were collected and the DNA was extracted and amplified using PCR. RESULTS: During the descriptive analysis, the variables ethnicity, biofilm, and gingivitis and the markers rs2242670 and rs2978642 were statistically significant...
April 27, 2017: Caries Research
https://www.readbyqxmd.com/read/28445866/association-of-genetic-polymorphisms-in-il-1r1-and-il-1r2-genes-with-iga-nephropathy-in-the-han-chinese-population
#10
Maowei Xie, Daofa Zhang, Yin Zhang, Xiaohong Yang, Yan Su, Yanni Wang, Haiyang Huang, Hui Han, Wenning Li, Keying Fu, Huiluan Su, Wentan Xu, Jiali Wei
AIM: IgA nephropathy (IgAN) is the major cause of end-stage renal disease(ESRD) in Asia and its pathogenesis is influenced by both genetic and environmental factors. Single nucleotide polymorphisms (SNPs) in IL1R1 and IL-1R2 may be associated with susceptibility to IgAN. In this study, we study the association between genetic variants of IL-1R1 and IL-1R2 and IgA nephropathy risk in the Chinese Han population. RESULT: In the allelic model analysis, the rs10490571 and rs3917225 were associated with a 1...
April 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445865/associations-between-lmo1-gene-polymorphisms-and-wilms-tumor-susceptibility
#11
Guo-Chang Liu, Zhen-Jian Zhuo, Shi-Bo Zhu, Jinhong Zhu, Wei Jia, Zhang Zhao, Jin-Hua Hu, Jing He, Feng-Hua Wang, Wen Fu
Wilms' tumor is the most common childhood renal malignancy. A genome-wide association study identified LIM domain only 1 (LMO1) as having oncogenic potential. We examined the associations between LMO1 gene polymorphisms and susceptibility to Wilms' tumor. In this hospital-based, case-control study, we recruited 145 children with Wilms' tumor and 531 cancer-free children. Four polymorphisms (rs110419 A>G, rs4758051 G>A, rs10840002 A>G and rs204938 A>G) were genotyped using Taqman methodology. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to measure the associations between selected polymorphisms and Wilms' tumor susceptibility...
April 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445651/herbicide-targets-and-detoxification-proteins-in-sugarcane-from-gene-assembly-to-structure-modelling
#12
Dyfed Lloyd Evans, Shailesh Vinay Joshi
In a genome context, sugarcane is a classic orphan crop, in that no genome and only very few genes have been assembled. We have devised a novel exome assembly methodology that has allowed us to assemble and characterize 49 genes that serve as herbicide targets, safener interacting proteins and members of herbicide detoxification pathways within the sugarcane genome. We have structurally modelled the products of each of these genes, as well as determining allelic, genomic and RNA-Seq based polymorphisms for each gene...
April 26, 2017: Genome Génome / Conseil National de Recherches Canada
https://www.readbyqxmd.com/read/28445614/two-common-human-cldn5-alleles-encode-different-open-reading-frames-but-produce-one-protein-isoform
#13
Ronald M Cornely, Barbara Schlingmann, Whitney S Shepherd, Joshua D Chandler, David C Neujahr, Michael Koval
Claudins provide tight junction barrier selectivity. The human CLDN5 gene contains a high-frequency single-nucleotide polymorphism (rs885985), where the G allele codes for glutamine (Q) and the A allele codes for an amber stop codon. Thus, these different CLDN5 alleles define nested open reading frames (ORFs) encoding claudin-5 proteins that are 303 or 218 amino acids in length. Interestingly, human claudin-16 and claudin-23 also have long ORFs. The long form of claudin-5 contrasts with the majority of claudin-5 proteins in the National Center for Biotechnology Information protein database, which are less than 220 amino acids in length...
April 26, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28445597/taller-height-as-a-risk-factor-for-venous-thromboembolism-a-mendelian-randomization-meta-analysis
#14
N S Roetker, S M Armasu, J S Pankow, P L Lutsey, W Tang, M A Rosenberg, T M Palmer, R F MacLehose, S R Heckbert, M Cushman, M de Andrade, A R Folsom
BACKGROUND: Taller height is associated with greater risk of venous thromboembolism (VTE). OBJECTIVES: We used instrumental variable (IV) techniques (Mendelian randomization) to further explore this relationship METHODS: Participants of European ancestry were included from two cohort studies [Atherosclerosis Risk in Communities (ARIC) study and Cardiovascular Health Study (CHS)] and one case-control study [Mayo Clinic VTE Study (Mayo)]. We created two weighted genetic risk scores (GRS) for height; the full GRS included 668 single nucleotide polymorphisms (SNPs) from a previously published meta-analysis and the restricted GRS included a subset of 362 SNPs not associated with weight independently of height...
April 26, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28445585/c-type-starches-and-their-derivatives-structure-and-function
#15
REVIEW
Zebin Guo, Xiangze Jia, Beibei Zhao, Shaoxiao Zeng, Jianbo Xiao, Baodong Zheng
The C-type starches are widely distributed in seeds or rhizomes of various legumes, medicinal plants, and crops. These carbohydrate polymers directly affect the application of starchy plant resources. The structural and crystal properties of starches are crucial parameters of starch granules, which significantly influence their physicochemical and mechanical properties. The unique crystal structure consisting of both A- and B-type polymorphs endows C-type starches with specific crystal adjustability. Furthermore, large proportions of resistant starches and slowly digestible starches are C-type starches, which contribute to benign glycemic response and proliferation of gut microflora...
April 26, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28445522/revealing-phenotype-associated-functional-differences-by-genome-wide-scan-of-ancient-haplotype-blocks
#16
Ritsuko Onuki, Rui Yamaguchi, Tetsuo Shibuya, Minoru Kanehisa, Susumu Goto
Genome-wide scans for positive selection have become important for genomic medicine, and many studies aim to find genomic regions affected by positive selection that are associated with risk allele variations among populations. Most such studies are designed to detect recent positive selection. However, we hypothesize that ancient positive selection is also important for adaptation to pathogens, and has affected current immune-mediated common diseases. Based on this hypothesis, we developed a novel linkage disequilibrium-based pipeline, which aims to detect regions associated with ancient positive selection across populations from single nucleotide polymorphism (SNP) data...
2017: PloS One
https://www.readbyqxmd.com/read/28445510/whole-genome-re-sequencing-to-identify-suppressor-mutations-of-mutant-and-foreign-escherichia-coli-ftsz
#17
Kiani A J Arkus Gardner, Masaki Osawa, Harold P Erickson
FtsZ is an essential protein for bacterial cell division, where it forms the cytoskeletal scaffold and may generate the constriction force. We have found previously that some mutant and foreign FtsZ that do not complement an ftsZ null can function for cell division in E. coli upon acquisition of a suppressor mutation somewhere in the genome. We have now identified, via whole genome re-sequencing, single nucleotide polymorphisms in 11 different suppressor strains. Most of the mutations are in genes of various metabolic pathways, which may modulate cell division indirectly...
2017: PloS One
https://www.readbyqxmd.com/read/28445304/toll-like-receptors-2-and-9-tlr2-and-tlr9-gene-polymorphism-in-patients-with-type-2-diabetes-and-diabetic-foot
#18
Mohamed-Naguib Abdalla Wifi, Maha Assem, Rasha Hamed Elsherif, Hameda Abdel-Fattah El-Azab, Aasem Saif
Toll-like receptors (TLRs) are innate immune receptors that mediate the inflammatory response in diabetes mellitus (DM). The aim of this study is to evaluate the association of TLR2 and TLR9 gene polymorphism in patients with type 2 DM (T2DM) and diabetic foot (DF).The study included 90 subjects divided into group I (30 patients with T2DM and DF), group II (30 patients with T2DM and no evidence of DF), and group III (normal control subjects). TLR2 (1350 T/C, rs3804100) and TLR9 (1237 T/C, rs5743836) genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique for all subjects...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28445285/association-between-vitamin-d-receptor-bsmi-polymorphism-and-bone-mineral-density-in-pediatric-patients-a-meta-analysis-and-systematic-review-of-observational-studies
#19
Li Bao, Mingzhi Chen, Yong Lei, Zemin Zhou, Huiping Shen, Feng Le
BACKGROUND: Vitamin D and the vitamin D receptor (VDR) are important in the metabolic processes that affect bone mineral density (BMD). However, the effect of VDR BsmI polymorphism on BMD in pediatric patients is still unclear. METHODS: Eligible studies were identified from the following electronic databases: PubMed, Embase, the Cochrane Library, and the Chinese CNKI and Wanfang databases before October 1, 2016. Data were extracted from the eligible studies, and associations between VDR BsmI polymorphism and BMD in pediatric patients were estimated with weighted mean differences (WMDs) and 95% confidence intervals (CIs)...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28445260/association-of-caga-epiya-d-or-epiya-c-phosphorylation-sites-with-peptic-ulcer-and-gastric-cancer-risks-a-meta-analysis
#20
Qiuping Li, Jingwei Liu, Yuehua Gong, Yuan Yuan
BACKGROUND: Increasingly, studies have focused on the relationship between Helicobacter pylori (H pylori) cytotoxin associated gene A protein (CagA) Glu-Pro-Ile-Tyr-Ala (EPIYA)-D motifs or multiple EPIYA-C phosphorylation sites and peptic ulcer disease (PUD) or gastric cancer (GC) risk. However, the conclusions have been inconsistent. The aim of this meta-analysis was to evaluate whether 1 CagA EPIYA-D motif or multiple EPIYA-C phosphorylation sites were associated with PUD or GC risk...
April 2017: Medicine (Baltimore)
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