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https://www.readbyqxmd.com/read/29777458/increased-vitamin-d-receptor-gene-expression-and-rs11568820-and-rs4516035-promoter-polymorphisms-in-autistic-disorder
#1
Burhan Balta, Hakan Gumus, Ruslan Bayramov, Keziban Korkmaz Bayramov, Murat Erdogan, Didem Behice Oztop, Muhammet Ensar Dogan, Serpil Taheri, Munis Dundar
Although there are a large number of sequence variants of different genes and copy number variations at various loci identified in autistic disorder (AD) patients, the pathogenesis of AD has not been elucidated completely. Recently, in AD patients, a large number of expression array and transcriptome studies have shown an increase in the expression of genes especially related to innate immune response. Antimicrobial effects of vitamin D and VDR are exerted through Toll-Like-Receptors (TLR) which have an important role in the innate immune response, are expressed by antigen presenting cells and recognize foreign microorganisms...
May 18, 2018: Molecular Biology Reports
https://www.readbyqxmd.com/read/29777237/dna-methylation-variant-b-vitamins-intake-and-longitudinal-change-in-body-mass-index
#2
Xiang Li, Tiange Wang, Min Zhao, Tao Huang, Dianjianyi Sun, Liyuan Han, Hoirun Nisa, Xiaoyun Shang, Yoriko Heianza, Lu Qi
BACKGROUND: Growing evidence has implicated DNA methylation (DNAm) in the regulation of body adiposity; a recent epigenome-wide association study (EWAS) identified a genetic variant determining DNAm at the SREBF1 gene that affected body mass index (BMI). OBJECTIVE: In the present study, we tested interactions between DNAm variant rs752579 and methylation metabolism-related B-vitamins (folate, vitamin B2 , vitamin B6 , and vitamin B12 ) on longitudinal change in BMI in the Women's Health Initiative Memory Study (WHIMS)...
May 17, 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29774586/genome-wide-association-study-reveals-novel-genes-for-the-ear-size-in-sheep-ovis-aries
#3
L Gao, S-S Xu, J-Q Yang, M Shen, M-H Li
Variations in ear size can be observed in livestock such as sheep; however, the genetic basis of variable ear size in sheep is still poorly understood. To investigate causative genes associated with ear size in sheep, a genome-wide association study was performed in 115 adult Duolang sheep with different-sized floppy ears using the Ovine Infinium HD BeadChip. We found 38 significant SNPs at the genome-wide or chromosome-wise 5% significance level after Bonferroni correction. The most significant association (P = 1...
May 18, 2018: Animal Genetics
https://www.readbyqxmd.com/read/29774577/genome-wide-association-analysis-reveals-novel-loci-for-hypoxia-adaptability-in-tibetan-chicken
#4
S Y Jiang, H Y Xu, Z N Shen, C J Zhao, C Wu
The Tibetan chicken (TBC), an indigenous chicken breed of the Tibetan Plateau, has adapted to its hypoxic, high-altitude environment over hundreds of years. The objective of this study was to identify the polymorphisms and genes associated with adaptation to hypoxia in this chicken breed. In the present study, samples were collected during days 18-21 of the incubation period from both surviving chicks and dead embryos, all of which were hatched under hypoxic conditions. A genome-wide association study was conducted using the Illumina iSelect 60K SNP array with a case-control design, in which the case group consisted of the dead chicken embryos (n = 54) and controls were the surviving chicks (n = 82)...
May 18, 2018: Animal Genetics
https://www.readbyqxmd.com/read/29774466/rs2227982-and-rs2227981-in-pdcd1-gene-are-functional-snps-associated-with-t1d-risk-in-east-asian
#5
Yong Gu, Lei Xiao, Wei Gu, Shu Chen, Yingjie Feng, Jian Wang, Zhixiao Wang, Yun Cai, Heng Chen, Xinyu Xu, Yun Shi, Mei Zhang, Kuanfeng Xu, Tao Yang
AIMS: To investigate whether PDCD1 gene polymorphisms are functional, and their associations with T1D risk and related clinical characteristics. METHODS: A total of 3060 Chinese Han individuals (1019 T1D patients and 2041 healthy controls) were genotyped for 4 tag single nucleotide polymorphisms (SNPs) within the PDCD1 region (rs2227982, rs7421861, rs10204525, and rs6710479) and another most studied synonymous SNP, rs2227981. In addition, 251 healthy individuals underwent an oral glucose tolerance test (OGTT); measures of insulin release and sensitivity were estimated from insulinogenic, BIGTT, Matsuda...
May 17, 2018: Acta Diabetologica
https://www.readbyqxmd.com/read/29774458/effects-of-rs591323-on-serotonin-transporter-availability-in-healthy-male-subjects
#6
Kyoungjune Pak, Hyun-Yeol Nam, Seunghyeon Shin, Keunyoung Kim, Myung Jun Lee, Eun-Joo Kim, Jae Meen Lee, Seong-Jang Kim, In Joo Kim
OBJECTIVES: We aimed to investigate the association between genetic factors of SNPs dopamine transporter (DAT) and serotonin transporter (SERT) availabilities in healthy controls. METHODS: The study population consisted of healthy controls with screening 123 I-FP-CIT single-photon emission computed tomography. Specific binding of 123 I-FP-CIT regarding DAT and SERT was calculated using a region of interest analysis. VOI template was applied to measure specific binding ratios (SBRs) of caudate nucleus, putamen, striatum, midbrain, and pons...
May 17, 2018: Annals of Nuclear Medicine
https://www.readbyqxmd.com/read/29773854/genome-wide-haplotype-association-analysis-of-primary-biliary-cholangitis-risk-in-japanese
#7
Cindy Im, Yadav Sapkota, Wonjong Moon, Minae Kawashima, Minoru Nakamura, Katsushi Tokunaga, Yutaka Yasui
Primary biliary cholangitis (PBC) susceptibility loci have largely been discovered through single SNP association testing. In this study, we report genic haplotype patterns associated with PBC risk genome-wide in two Japanese cohorts. Among the 74 genic PBC risk haplotype candidates we detected with a novel methodological approach in a discovery cohort of 1,937 Japanese, nearly two-thirds were replicated (49 haplotypes, Bonferroni-corrected P < 6.8 × 10-4 ) in an independent Japanese cohort (N = 949)...
May 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29773828/single-nucleotide-polymorphisms-in-the-g-protein-coupled-receptor-kinase-5-grk5-gene-are-associated-with-plasma-ldl-cholesterol-levels-in-humans
#8
Stefan Z Lutz, Mathias Falcenberg, Fausto Machicao, Andreas Peter, Martin Kächele, Elko Randrianarisoa, Angela Lehn-Stefan, Robert Wagner, Jürgen Machann, Fritz Schick, Martin Heni, Axel Ullrich, Andreas Fritsche, Norbert Stefan, Hans-Ulrich Häring, Harald Staiger, Konstantinos Kantartzis
Genetically modified mice models suggest an important role for G-protein-coupled receptor kinase 5 (GRK5) in the pathophysiology of obesity and related disorders. We investigated whether single nucleotide polymorphisms (SNPs) in the gene encoding GRK5 affect cardiometabolic traits in humans. We genotyped 3 common SNPs in intron 1 (rs1980030, rs10466210, rs9325562) and one SNP in intron 3 (rs10886471) of GRK5 in 2332 subjects at risk for type 2 diabetes. Total- and visceral fat mass were measured by magnetic resonance (MR) tomography and liver fat content by 1 H-MR spectroscopy...
May 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29771920/maternal-human-telomerase-reverse-transcriptase-variants-are-associated-with-preterm-labor-and-preterm-premature-rupture-of-membranes
#9
Caroline Marrs, Kevin Chesmore, Ramkumar Menon, Scott Williams
OBJECTIVE: Premature aging and short telomere lengths of fetal tissues are associated with spontaneous preterm labor (PTL) and preterm premature rupture of membranes (pPROM). Maintenance of telomere length is performed by the enzyme telomerase. Human telomerase reverse transcriptase (hTERT) is a subunit of telomerase, and its dysfunction affects telomere shortening. This study assessed whether maternal or fetal genetic variations in the hTERT gene are associated with PTL or pPROM. METHODS: A case (PTL or pPROM) control (term birth) genetic association study was conducted in 654 non-Hispanic white mothers (438 term, 162 PTL, 54 pPROM) and 502 non-Hispanic white newborns (346 term, 116 PTB, 40 pPROM)...
2018: PloS One
https://www.readbyqxmd.com/read/29771169/associations-between-skin-rash-treatment-outcome-and-single-nucleotide-polymorphisms-in-head-and-neck-cancer-patients-receiving-the-egfr-inhibitor-zalutumumab-results-from-the-dahanca-19-trial
#10
Line Brøndum, Jan Alsner, Brita Singers Sørensen, Christian Maare, Jørgen Johansen, Hanne Primdahl, Jan Folkvard Evensen, Claus Andrup Kristensen, Lisbeth Juhler Andersen, Jens Overgaard, Jesper Grau Eriksen
PURPOSE: To study the associations between development of moderate to severe skin rash, clinical outcome, and single nucleotide polymorphisms (SNPs) in candidate genes in head and neck cancer patients from the DAHANCA 19 trial receiving the EGFR-inhibitor zalutumumab concurrently with radiation treatment. MATERIAL AND METHODS: 310 patients were included from the zalutumumab-arm of the DAHANCA 19 study. Nine SNPs in the candidate genes EGFR, EGF, AREG, FCGR2A, FCGR3A, and CCND1 were successfully determined in 294 patients...
May 17, 2018: Acta Oncologica
https://www.readbyqxmd.com/read/29770990/pool-based-genome-wide-association-study-identified-novel-candidate-regions-on-bta9-and-14-for-oleic-acid-percentage-in-japanese-black-cattle
#11
Fuki Kawaguchi, Hiroto Kigoshi, Ayaka Nakajima, Yuta Matsumoto, Yoshinobu Uemoto, Moriyuki Fukushima, Emi Yoshida, Eiji Iwamoto, Takayuki Akiyama, Namiko Kohama, Eiji Kobayashi, Takeshi Honda, Kenji Oyama, Hideyuki Mannen, Shinji Sasazaki
Fatty acid composition is an important indicator of beef quality. The objective of this study was to search the potential candidate region for fatty acid composition. We performed pool-based genome-wide association studies (GWAS) for oleic acid percentage (C18:1) in a Japanese Black cattle population from the Hyogo prefecture. GWAS analysis revealed two novel candidate regions on BTA9 and BTA14. The most significant single nucleotide polymorphisms (SNPs) in each region were genotyped in a population (n = 899) to verify their effect on C18:1...
May 17, 2018: Animal Science Journal, Nihon Chikusan Gakkaihō
https://www.readbyqxmd.com/read/29769839/a-novel-association-of-polymorphism-in-the-itga4-gene-encoding-the-vla-4-%C3%AE-4-subunit-with-increased-risk-of-alzheimer-s-disease
#12
Vladimira Durmanova, Zuzana Parnicka, Juraj Javor, Gabriel Minarik, Lubomir Vrazda, Barbora Vaseckova, Karin Gmitterova, Maria Kralova, Jan Pecenak, Peter Filipcik, Ivana Shawkatova
Alzheimer's disease (AD) is the most prevalent cause of dementia in elderly people worldwide. Many studies support the hypothesis that the inflammation of the CNS contributes to the neurodegeneration and disease progression. The integrin molecule α 4 β 1, also known as very late antigen 4 (VLA-4), belongs to adhesion molecules that activate the inflammatory process through the migration of immune cells into the CNS. Therefore, the objective of our study was to analyze the association between two polymorphisms located in the ITGA4 gene encoding the α 4 subunit of VLA-4 and the risk of AD...
2018: Mediators of Inflammation
https://www.readbyqxmd.com/read/29769702/fine-mapping-of-98-obesity-loci-in-mexican-children
#13
Hsin Yen Liu, Akram Alyass, Arkan Abadi, Jesus Peralta-Romero, Fernando Suarez, Jaime Gomez-Zamudio, Astride Audirac, Esteban J Parra, Miguel Cruz, David Meyre
BACKGROUND/OBJECTIVES: Mexico has one of the highest prevalence of childhood obesity in the world. Genome-wide association studies (GWAS) for obesity have identified multiple single-nucleotide polymorphisms (SNPs) in populations of European, East Asian, and African descent. The contribution of these loci to obesity in Mexican children is unclear. We assessed the transferability of 98 obesity loci in Mexican children and fine-mapped the association signals. SUBJECTS/METHODS: The study included 405 and 390 Mexican children with normal weight and obesity...
March 12, 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29769613/genetic-variant-for-behavioral-regulation-factor-of-executive-function-and-its-possible-brain-mechanism-in-attention-deficit-hyperactivity-disorder
#14
Xiao Sun, Zhaomin Wu, Qingjiu Cao, Ying Qian, Yong Liu, Binrang Yang, Suhua Chang, Li Yang, Yufeng Wang
As a childhood-onset psychiatric disorder, attention deficit hyperactivity disorder (ADHD) is complicated by phenotypic and genetic heterogeneity. Lifelong executive function deficits in ADHD are described in many literatures and have been proposed as endophenotypes of ADHD. However, its genetic basis is still elusive. In this study, we performed a genome-wide association study of executive function, rated with Behavioral Rating Inventory of Executive Function (BRIEF), in ADHD children. We identified one significant variant (rs852004, P = 2...
May 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29769526/a-whole-genome-sequence-study-identifies-genetic-risk-factors-for-neuromyelitis-optica
#15
Karol Estrada, Christopher W Whelan, Fengmei Zhao, Paola Bronson, Robert E Handsaker, Chao Sun, John P Carulli, Tim Harris, Richard M Ransohoff, Steven A McCarroll, Aaron G Day-Williams, Benjamin M Greenberg, Daniel G MacArthur
Neuromyelitis optica (NMO) is a rare autoimmune disease that affects the optic nerve and spinal cord. Most NMO patients ( > 70%) are seropositive for circulating autoantibodies against aquaporin 4 (NMO-IgG+). Here, we meta-analyze whole-genome sequences from 86 NMO cases and 460 controls with genome-wide SNP array from 129 NMO cases and 784 controls to test for association with SNPs and copy number variation (total N = 215 NMO cases, 1244 controls). We identify two independent signals in the major histocompatibility complex (MHC) region associated with NMO-IgG+, one of which may be explained by structural variation in the complement component 4 genes...
May 16, 2018: Nature Communications
https://www.readbyqxmd.com/read/29768301/germline-genome-wide-association-studies-in-women-receiving-neoadjuvant-chemotherapy-with-or-without-bevacizumab
#16
James N Ingle, Krishna R Kalari, Donald Lawrence Wickerham, Gunter von Minckwitz, Peter A Fasching, Yoichi Furukawa, Taisei Mushiroda, Matthew P Goetz, Poulami Barman, Erin E Carlson, Priya Rastogi, Joseph P Costantino, Junmei Cairns, Soonmyung Paik, Harry D Bear, Michiaki Kubo, Liewei Wang, Norman Wolmark, Richard M Weinshilboum
Neoadjuvant chemotherapy (NAC) for breast cancer is widely utilized, and we performed genome-wide association studies (GWAS) to determine whether germ-line genetic variability was associated with benefit in terms of pathological complete response (pCR), disease-free survival, and overall survival in patients entered on the NSABP B-40 NAC trial, wherein patients were randomized to receive, or not, bevacizumab in addition to chemotherapy. Patient DNA samples were genotyped with the Illumina OmniExpress BeadChip...
June 2018: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/29766219/association-study-of-genetic-variants-in-estrogen-metabolic-pathway-genes-and-colorectal-cancer-risk-and-survival
#17
Shuwei Li, Lisheng Xie, Mulong Du, Kaili Xu, Lingjun Zhu, Haiyan Chu, Jinfei Chen, Meilin Wang, Zhengdong Zhang, Dongying Gu
Although studies have investigated the association of genetic variants and the abnormal expression of estrogen-related genes with colorectal cancer risk, the evidence remains inconsistent. We clarified the relationship of genetic variants in estrogen metabolic pathway genes with colorectal cancer risk and survival. A case-control study was performed to assess the association of single-nucleotide polymorphisms (SNPs) in ten candidate genes with colorectal cancer risk in a Chinese population. A logistic regression model and Cox regression model were used to calculate SNP effects on colorectal cancer susceptibility and survival, respectively...
May 16, 2018: Archives of Toxicology
https://www.readbyqxmd.com/read/29766002/influence-of-vitamin-d-receptor-gene-polymorphisms-on-response-to-pegylated-interferon-in-chronic-hepatitis-b-egyptian-patients
#18
Gomaa Mostafa-Hedeab, Dina Sabry, Ghada Mostafa Abdelaziz, Manal Ewaiss, Nagla Adli, Wael Fathy
Background: We explored the effect of vitamin D receptor gene ( VDR ) polymorphisms in response to PEG-IFN treatment in Egyptian chronic hepatitis B (CHB) patients. Methods: Two hundred hepatitis B virus (HBV) patients (42.3±10.7 years) on PEG-IFN α-2a (180 µg /kg for 48 weeks) and one hundred control subjects (37.3 ±12 years) were enrolled in the study. Vitamin D levels and hepatitis B surface antigen (HBsAg) expression were assessed by ELISA. VDR polymorphisms FokI T>C (rs 10735810), BsmI A>G (rs 1544410), ApaI (rs7975253), and TaqI C>T (rs 731236), were genotyped using real-time PCR...
April 2018: Reports of Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/29765975/relationship-of-snp-rs2645429-in-farnesyl-diphosphate-farnesyltransferase-1-gene-promoter-with-susceptibility-to-lung-cancer
#19
Mehdi Dehghani, Zahra Samani, Hassan Abidi, Leila Manzouri, Reza Mahmoudi, Saeed Hosseini Teshnizi, Mohsen Nikseresht
Background and Purpose: The mevalonate pathway is one of the major metabolic pathways that use acetyl-CoA to produce sterols and isoprenoids. These compounds can be effective in the growth and development of tumors. One of the enzymes involved in the mevalonate pathway is FDFT1. Different variants of this gene are involved in the risk of suffering various diseases. The present study examined the relationship between FDFT1 rs2645429 polymorphism and the risk of nonsmall cell lung cancer (NSCLC) in a population from southern Iran...
2018: International Journal of Genomics
https://www.readbyqxmd.com/read/29765957/genetic-insights-into-frailty-association-of-9p21-23-locus-with-frailty
#20
Sanish Sathyan, Nir Barzilai, Gil Atzmon, Sofiya Milman, Emmeline Ayers, Joe Verghese
Frailty is a complex aging phenotype associated with increased vulnerability to disability and death. Understanding the biological antecedents of frailty may provide clues to healthy aging. The genome-wide association study hotspot, 9p21-23 region, is a risk locus for a number of age-related complex disorders associated with frailty. Hence, we conducted an association study to examine whether variations in 9p21-23 locus plays a role in the pathogenesis of frailty in 637 community-dwelling Ashkenazi Jewish adults aged 65 and older enrolled in the LonGenity study...
2018: Frontiers in Medicine
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