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https://www.readbyqxmd.com/read/29346564/genome-wide-comparison-of-allele-specific-gene-expression-between-african-and-european-populations
#1
Lei Tian, Asifullah Khan, Zhilin Ning, Kai Yuan, Chao Zhang, Haiyi Lou, Yuan Yuan, Shuhua Xu
Transcriptomic diversity across human populations reflects differential regulatory mechanisms. Allelic-imbalanced gene expression is a genetic regulatory mechanism that contributes to human phenotypic variation. To systematically investigate genome-wide allele-specific expression (ASE), we analyzed RNA-Seq data from European and African populations provided by the Geuvadis project. We identified 17 sites in 13 genes showing ASE in both Europeans and Africans, and 19 sites in 18 genes showing population-specific ASE, including both novel and known ASE signals...
January 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29346494/novel-myopia-genes-and-pathways-identified-from-syndromic-forms-of-myopia
#2
D Ian Flitcroft, James Loughman, Christine F Wildsoet, Cathy Williams, Jeremy A Guggenheim
Purpose: To test the hypothesis that genes known to cause clinical syndromes featuring myopia also harbor polymorphisms contributing to nonsyndromic refractive errors. Methods: Clinical phenotypes and syndromes that have refractive errors as a recognized feature were identified using the Online Mendelian Inheritance in Man (OMIM) database. One hundred fifty-four unique causative genes were identified, of which 119 were specifically linked with myopia and 114 represented syndromic myopia (i...
January 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29346284/double-heterozygosity-for-brca1-pathogenic-variant-and-brca2-polymorphic-stop-codon-k3326x-a-case-report-in-a-southern-italian-family
#3
Raffaele Palmirotta, Domenica Lovero, Luigia Stefania Stucci, Erica Silvestris, Davide Quaresmini, Angela Cardascia, Franco Silvestris
Here, we describe a patient with bilateral breast cancer and melanoma, and with a concomitant double variant, namely p.Gln563Ter in BRCA1 and p.Lys3326Ter in BRCA2. The BRCA2 p.Lys3326Ter (K3326X) (rs11571833) mutation identified in our patient is a debated substitution of thymidine for adenine which is currently regarded as benign polymorphism in main gene databases. Recent studies, however, describe this variant as associated with breast and ovarian tumors. Based on the observation of the cancer's earliest age of onset in this subject, our purpose was to reevaluate this variant according to recent papers indicating a role of powerful modifier of the genetic penetrance...
January 18, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29346270/resistance-to-hiv-integrase-inhibitors-about-r263k-and-e157q-mutations
#4
REVIEW
Charlotte Charpentier, Diane Descamps
The use of integrase inhibitors (INI) is increasing in antiretroviral therapies (ART) and INI are not all equal regarding genetic barrier to resistance. The aim of this manuscript was to review main in vivo and in vitro knowledge about two particular integrase resistance-associated mutations: R263K and E157Q. The R263K mutation was the first mutation rarely found selected at time of virological failure in patients failing a first-line dolutegravir-based treatment. Further in vitro studies on R263K mutants showed a moderate increase in phenotypic resistance level and a drastic reduction in viral replicative capacity...
January 18, 2018: Viruses
https://www.readbyqxmd.com/read/29346177/no-association-between-foxp2-rs10447760-and-schizophrenia-in-a-replication-study-of-the-chinese-han-population
#5
Jiajun Yin, Ningren Jia, Yansong Liu, Chunhui Jin, Fuquan Zhang, Shui Yu, Jun Wang, Jianmin Yuan
BACKGROUND: Schizophrenia (SCZ) is a severe and heritable psychiatric disorder, and previous studies have shown that regulation of the forkhead-box P2 gene (FOXP2) may play a role in schizophrenia. Moreover, just a few studies have identified a single nucleotide polymorphism (SNP) rs10447760 within the gene that was a risk variant for SCZ in the Chinese Han population. METHODS: To examine whether the variant in the FOXP2 gene contributes toward SCZ susceptibility, we carried out an association analysis of the SNP rs10447760 of the FOXP2 gene in a case-control study (1405 cases, 1137 controls) from China...
January 17, 2018: Psychiatric Genetics
https://www.readbyqxmd.com/read/29346142/neonatal-abstinence-syndrome-an-update
#6
Lauren A Sanlorenzo, Ann R Stark, Stephen W Patrick
PURPOSE OF REVIEW: The current review provides an update focused on the evolving epidemiology of neonatal abstinence syndrome (NAS), factors influencing disease expression, advances in clinical assessment of withdrawal, novel approaches to NAS treatment, and the emerging role of quality improvement in assessment and management of NAS. RECENT FINDINGS: The rise in the incidence of NAS disproportionately occurred in rural and suburban areas. Polysubstance exposure and genetic polymorphisms have been shown to modify NAS expression and severity...
January 17, 2018: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29345962/role-of-selected-polymorphisms-in-determining-muscle-fiber-composition-in-japanese-men-and-women
#7
Hiroshi Kumagai, Takuro Tobina, Noriko Ichinoseki-Sekine, Ryo Kakigi, Takamasa Tsuzuki, Hirofumi Zempo, Keisuke Shiose, Eiichi Yoshimura, Hideaki Kumahara, Makoto Ayabe, Yasuki Higaki, Ryo Yamada, Hiroyuki Kobayashi, Akira Kiyonaga, Hisashi Naito, Hiroaki Tanaka, Noriyuki Fuku
Genetic polymorphisms and sex differences are suggested to affect muscle fiber composition; however, no study has investigated the effects of genetic polymorphisms on muscle fiber composition with respect to sex differences. Therefore, the present study examined the effects of genetic polymorphisms on muscle fiber composition with respect to sex differences in Japanese population. The present study included 211 healthy Japanese individuals (102 men and 109 women). Muscle biopsies were obtained from the vastus lateralis to determine the proportion of myosin heavy chain isoforms (MHC-I, MHC-IIa, and MHC-IIx)...
January 18, 2018: Journal of Applied Physiology
https://www.readbyqxmd.com/read/29345518/bacterial-pathogenesis-and-interleukin-17-interconnecting-mechanisms-of-immune-regulation-host-genetics-and-microbial-virulence-that-influence-severity-of-infection
#8
Michelle N Chamoun, Antje Blumenthal, Matthew J Sullivan, Mark A Schembri, Glen C Ulett
Interleukin-17 (IL-17) is a pro-inflammatory cytokine involved in the control of many different disorders, including autoimmune, oncogenic, and diverse infectious diseases. In the context of infectious diseases, IL-17 protects the host against various classes of microorganisms but, intriguingly, can also exacerbate the severity of some infections. The regulation of IL-17 expression stems, in part, from the activity of Interleukin-23 (IL-23), which drives the maturation of different classes of IL-17-producing cells that can alter the course of infection...
January 18, 2018: Critical Reviews in Microbiology
https://www.readbyqxmd.com/read/29345446/the-first-south-american-case-of-pre-implantation-genetic-diagnosis-to-select-compatible-embryo-for-cord-blood-transplantation-as-treatment-for-sickle-cell-anemia
#9
Ciro D Martinhago, Kalina Rn Endo, Mariana A Oliveira, Alex Mm Dias, Gislaine S Pereira, Augusto M Azzolini, Paula Rq Estrada, Caio G Bruzaca, Ana Carolina N Martinhago
Sickle cell anemia is an inherited systemic hemoglobinopathy that affects hemoglobin production in red blood cells, leading to early morbidity and mortality. It is caused by a homozygous nucleotide substitution (c.20A>T) in the β-globin gene (HBB) that changes a glutamic acid to a valine in the protein. We present a case report of a fertile couple, both carriers of the sickle cell anemia mutation, with one affected daughter. Six cycles of assisted reproductive techniques were performed, resulting in 53 embryos in cleavage stage...
January 18, 2018: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/29345222/development-and-implementation-of-multilocus-sequence-typing-to-study-the-diversity-of-the-yeast-kluyveromyces-marxianus-in-italian-cheeses
#10
Fabrizia Tittarelli, Javier A Varela, Loughlin Gethins, Catherine Stanton, R P Ross, Giovanna Suzzi, Luigi Grazia, Rosanna Tofalo, John P Morrissey
The yeast Kluyveromyces marxianus possesses advantageous traits like rapid growth, GRAS (generally regarded as safe) status and thermotolerance that make it very suitable for diverse biotechnological applications. Although physiological studies demonstrate wide phenotypic variation within the species, there is only limited information available on the genetic diversity of K. marxianus. The aim of this work was to develop a multilocus sequence typing (MLST) method for K. marxianus to improve strain classification and selection...
January 18, 2018: Microbial Genomics
https://www.readbyqxmd.com/read/29344947/genome-wide-population-structure-and-admixture-analysis-reveals-weak-differentiation-among-ugandan-goat-breeds
#11
R B Onzima, M R Upadhyay, R Mukiibi, E Kanis, M A M Groenen, R P M A Crooijmans
Uganda has a large population of goats, predominantly from indigenous breeds reared in diverse production systems, whose existence is threatened by crossbreeding with exotic Boer goats. Knowledge about the genetic characteristics and relationships among these Ugandan goat breeds and the potential admixture with Boer goats is still limited. Using a medium-density single nucleotide polymorphism (SNP) panel, we assessed the genetic diversity, population structure and admixture in six goat breeds in Uganda: Boer, Karamojong, Kigezi, Mubende, Small East African and Sebei...
January 17, 2018: Animal Genetics
https://www.readbyqxmd.com/read/29344848/current-status-and-future-possibilities-of-molecular-genetics-techniques-in-brassica-napus
#12
REVIEW
Muhammad Afzal, Salem Safer Alghamdi, Muhammad Habib Ur Rahman, Awais Ahmad, Tahir Farooq, Mukhtar Alam, Imtiaz Ali Khan, Hidayat Ullah, Wajid Nasim, Shah Fahad
As PCR methods have improved over the last 15 years, there has been an upsurge in the number of new DNA marker tools, which has allowed the generation of high-density molecular maps for all the key Brassica crop types. Biotechnology and molecular plant breeding have emerged as a significant tool for molecular understanding that led to a significant crop improvement in the Brassica napus species. Brassica napus possess a very complicated polyploidy-based genomics. The quantitative trait locus (QTL) is not sufficient to develop effective markers for trait introgression...
January 17, 2018: Biotechnology Letters
https://www.readbyqxmd.com/read/29344273/a-single-nucleotide-polymorphism-in-cyp1b1-leads-to-differential-prostate-cancer-risk-and-telomere-length
#13
Cheng-Yuan Gu, Gao-Xiang Li, Yu Zhu, Hua Xu, Yao Zhu, Xiao-Jian Qin, Dai Bo, Ding-Wei Ye
BACKGROUND: Cytochrome P450 1B1 (CYP1B1) is a key enzyme in its oestrogen metabolism pathway, giving rise to hydroxylation and conjugation. Functionally relevant genetic variants within CYP1B1 may affect the telomere length and subsequently lead to prostate carcinogenesis. METHODS: We evaluated 8 CYP1B1 tag single nucleotide polymorphisms (SNPs) in 1015 men with prostate cancer (PCa) and 1052 cancer-free controls, and calculated odds ratios (ORs) and 95% confidence intervals (CIs) to estimate their association with risk of PCa...
2018: Journal of Cancer
https://www.readbyqxmd.com/read/29343773/mitochondrial-mutations-in-cholestatic-liver-disease-with-biliary-atresia
#14
Hong Koh, Gun-Seok Park, Sun-Mi Shin, Chang Eon Park, Seung Kim, Seok Joo Han, Huy Quang Pham, Jae-Ho Shin, Dong-Woo Lee
Biliary atresia (BA) results in severe bile blockage and is caused by the absence of extrahepatic ducts. Even after successful hepatic portoenterostomy, a considerable number of patients are likely to show progressive deterioration in liver function. Recent studies show that mutations in protein-coding mitochondrial DNA (mtDNA) genes and/or mitochondrial genes in nuclear DNA (nDNA) are associated with hepatocellular dysfunction. This observation led us to investigate whether hepatic dysfunctions in BA is genetically associated with mtDNA mutations...
January 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29343654/intestinal-epithelial-cell-specific-deletion-of-%C3%AE-mannosidase-ii-ameliorates-experimental-colitis
#15
Koichiro Suzuki, Takahiro Yamada, Keiko Yamazaki, Masato Hirota, Narumi Ishihara, Mizuki Sakamoto, Daisuke Takahashi, Hideki Iijima, Koji Hase
Inflammatory bowel disease (IBD) is a refractory disease of the gastrointestinal tract that is believed to develop in genetically susceptible individuals. Glycosylation, a type of post-translational modification, is involved in the development of a wide range of diseases, including IBD, by modulating the function of various glycoproteins. To identify novel genes contributing to the development of IBD, we analyzed single nucleotide polymorphisms (SNPs) of glycosylation-related genes in IBD patients and identified MAN2A1, encoding alpha-mannosidase II (α-MII), as a candidate gene...
January 18, 2018: Cell Structure and Function
https://www.readbyqxmd.com/read/29343595/balanced-genetic-diversity-improves-population-fitness
#16
Yuma Takahashi, Ryoya Tanaka, Daisuke Yamamoto, Suzuki Noriyuki, Masakado Kawata
Although genetic diversity within a population is suggested to improve population-level fitness and productivity, the existence of these effects is controversial because empirical evidence for an ecological effect of genetic diversity and the underlying mechanisms is scarce and incomplete. Here, we show that the natural single-gene behavioural polymorphism (Rover and sitter) in Drosophila melanogaster has a positive effect on population fitness. Our simple numerical model predicted that the fitness of a polymorphic population would be higher than that expected with two monomorphic populations, but only under balancing selection...
January 31, 2018: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/29343559/a-genetic-locus-for-paranoia
#17
Bernard Crespi, Silven Read, Iiro Salminen, Peter Hurd
The psychological effects of brain-expressed imprinted genes in humans are virtually unknown. Prader-Willi syndrome (PWS) is a neurogenetic condition mediated by genomic imprinting, which involves high rates of psychosis characterized by hallucinations and paranoia, as well as autism. Altered expression of two brain-expressed imprinted genes, MAGEL2 and NDN, mediates a suite of PWS-related phenotypes, including behaviour, in mice. We phenotyped a large population of typical individuals for schizophrenia-spectrum and autism-spectrum traits, and genotyped them for the single-nucleotide polymorphism rs850807, which is putatively functional and linked with MAGEL2 and NDN Genetic variation in rs850807 was strongly and exclusively associated with the ideas of reference subscale of the schizophrenia spectrum, which is best typified as paranoia...
January 2018: Biology Letters
https://www.readbyqxmd.com/read/29343494/uncovering-genomic-regions-associated-with-trypanosoma-infections-in-wild-populations-of-the-tsetse-fly-glossina-fuscipes
#18
Andrea Gloria-Soria, W Augustine Dunn, Xiaoqing Yu, Aurélien Vigneron, Kuang-Yao Lee, Mo Li, Brian L Weiss, Hongyu Zhao, Serap Aksoy, Adalgisa Caccone
Vector-borne diseases are responsible for more than one million deaths every year but genomic resources for most species responsible for their transmission are limited. This is true for neglected diseases such as sleeping sickness (Human African Trypanosomiasis), a disease caused by Trypanosoma parasites vectored by several species of tseste flies within the genus Glossina We describe an integrative approach that identifies statistical associations between trypanosome infection status of Glossina fuscipes fuscipes (Gff) flies from Uganda, for which functional studies are complicated because the species cannot be easily maintained in laboratory colonies, and ~73,000 polymorphic sites distributed across the genome...
January 17, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29343308/invited-review-genomic-selection-for-small-ruminants-in-developed-countries-how-applicable-for-the-rest-of-the-world
#19
R Mrode, G M Tarekegn, J M Mwacharo, A Djikeng
Improved management and use of estimated breeding values in breeding programmes, have resulted in rapid genetic progress for small ruminants (SR) in Europe and other developed countries. The development of single nucleotide polymorphisms chips opened opportunities for genomic selection (GS) in SR in these countries. Initially focused on production traits (growth and milk), GS has been extended to functional traits (reproductive performance, disease resistance and meat quality). The GS systems have been characterized by smaller reference populations compared with those of dairy cattle and consisting mostly of cross- or multi-breed populations...
January 18, 2018: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/29343214/establishing-a-genetic-link-between-fto-and-vdr-gene-polymorphisms-and-obesity-in-the-emirati-population
#20
Saad Mahmud Khan, Sarah El Hajj Chehadeh, Mehera Abdulrahman, Wael Osman, Habiba Al Safar
BACKGROUND: Obesity is a metabolic disease that is widely prevalent with approximately 600 million people classified as obese worldwide. Its etiology is multifactorial and involves a complex interplay between genes and the environment. Over the past few decades, obesity rates among the Emirati population have been increasing. The aim of this study was to investigate the association of candidate gene single nucleotide polymorphisms (SNPs), namely FTO (rs9939609) and VDR (rs1544410), with obesity in the UAE population...
January 17, 2018: BMC Medical Genetics
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