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Helene Gellert-Kristensen, Nawar Dalila, Sune Fallgaard Nielsen, Børge Grønne Nordestgaard, Anne Tybjaerg-Hansen, Stefan Stender
Gallstone disease is a common complex disease that confers a substantial economic burden on society. The genetic underpinnings of gallstone disease remain incompletely understood. We aimed to identify new genetic associations with gallstone disease using publicly available data from the UK Biobank and two large Danish cohorts. We extracted genetic associations with gallstone disease from the Global Biobank Engine (GBE), an online browser of genomewide associations in UK Biobank participants (14,940 cases and 322,268 controls)...
October 16, 2018: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
Khadija El Jellas, Bente B Johansson, Karianne Fjeld, Aristotelis Antonopoulos, Heike Immervoll, Man H Choi, Dag Hoem, Mark E Lowe, Dominique Lombardo, Pål R Njølstad, Anne Dell, Eric Mas, Stuart M Haslam, Anders Molven
Carboxyl-ester lipase (CEL) is a pancreatic fat-digesting enzyme associated with human disease. Rare mutations in the CEL gene cause a syndrome of pancreatic exocrine and endocrine dysfunction denoted MODY8, whereas a recombined CEL allele increases the risk for chronic pancreatitis. Moreover, CEL has been linked to pancreatic ductal adenocarcinoma (PDAC) through a postulated oncofetal CEL variant termed feto-acinar pancreatic protein (FAPP). The monoclonal antibody mAb16D10 was previously reported to detect a glycotope in the highly O-glycosylated, mucin-like C-terminus of CEL/FAPP...
October 12, 2018: Journal of Biological Chemistry
Edward P K Parker, Helena Whitfield, Chudarkodi Baskar, Sidhartha Giri, Jacob John, Nicholas C Grassly, Gagandeep Kang, Ira Praharaj
The FUT2 gene determines whether histo-blood group antigens are secreted at mucosal surfaces. Secretor status influences susceptibility to enteric viruses, potentially including oral poliovirus vaccine (OPV). We performed a nested case-control study to determine the association between FUT2 genotype (SNPs G428A, C302T, and A385T) and seroconversion among Indian infants who received a single dose of monovalent type 3 OPV. Secretor prevalence was 89/118 (75%) in infants who seroconverted and 97/122 (80%) in infants who failed to seroconvert (odds ratio 0...
September 19, 2018: Journal of Infectious Diseases
Katri Korpela, Anne Salonen, Brandon Hickman, Clemens Kunz, Norbert Sprenger, Kaarina Kukkonen, Erkki Savilahti, Mikael Kuitunen, Willem M de Vos
One of the most abundant components in human milk is formed by oligosaccharides, which are poorly digested by the infant. The oligosaccharide composition of breast milk varies between mothers, and is dependent on maternal secretor (FUT2) genotype. Secretor mothers produce milk containing α1-2 fucosylated human milk oligosaccharides, which are absent in the milk of non-secretor mothers. Several strains of bacteria in the infant gut have the capacity to utilise human milk oligosaccharides (HMOs). Here we investigate the differences in infant gut microbiota composition between secretor (N = 76) and non-secretor (N = 15) mothers, taking into account birth mode...
September 13, 2018: Scientific Reports
Wei Liang, Feng Cai, Liang Yang, Zhe Zhang, Zhicheng Wang
Background: The para-Bombay phenotype is characterized by a lack of ABH antigens on red cells, but ABH substances are found in saliva. Molecular genetic analysis was performed for seven Chinese individuals serologically typed as para-Bombay in Blood Station Center of Ningbo, Zhejiang Province, Ningbo, China from 2011 to 2014. Methods: RBCs' phenotype was characterized by standard serologic technique. Genomic DNA was sequenced with primers that amplified the coding sequence of α (1, 2)-fucosyltransferase genes FUT1 (or H ) and FUT2 (or Se ), respectively...
August 2018: Iranian Journal of Public Health
Yasuhiro Omata, Reiji Aoki, Ayako Aoki-Yoshida, Keiko Hiemori, Atsushi Toyoda, Hiroaki Tateno, Chise Suzuki, Yoshiharu Takayama
Psychological stress can cause dysfunction of the gastrointestinal tract by regulating its interaction with central nervous system (brain-gut axis). Chronic social defeat stress (CSDS) is widely used to produce a rodent model of stress-induced human mood disorders and depression. We previously showed that CSDS significantly affects the intestinal ecosystem including cecal and fecal microbiota, intestinal gene expression profiles and cecal metabolite profiles. Here, we investigated whether the glycosylation pattern in the intestinal epithelium was affected in C57BL/6 mice exposed to CSDS (hereinafter referred to as CSDS mice)...
September 4, 2018: Scientific Reports
Peter Arend
The metabolic relationship between the formation of the ABO(H) blood group phenotype and human fertility is evident in the case of the (Oh) or Bombay blood type, which Charles Darwin would have interpreted as resulting from reduced male fertility in consanguinities, based on the history of his own family, the Darwin/Wedgwood Dynasty. The classic Bombay type occurs with the extremely rare, human-specific genotype (h/h; se/se), which (due to point mutations) does not encode fucosyltransferases 1(FUT1) and 2 (FUT2)...
November 2018: Immunobiology
Lynda Mottram, Jining Liu, Sonali Chavan, Joshua Tobias, Ann-Mari Svennerholm, Jan Holgersson
We have previously reported clinical data to suggest that colonization factor I (CFA/I) fimbriae of enterotoxigenic Escherichia coli (ETEC) can bind to Lewis a (Lea ), a glycan epitope ubiquitous in the small intestinal mucosa of young children (<2 years of age), and individuals with a genetic mutation of FUT2. To further elucidate the physiological binding properties of this interaction, we engineered Chinese Hamster Ovary (CHO-K1) cells to express Lea or Leb determinants on both N- and O-glycans. We used our glyco-engineered CHO-K1 cell lines to demonstrate that CfaB, the major subunit of ETEC CFA/I fimbriae, as well as four related ETEC fimbriae, bind more to our CHO-K1 cell-line expressing Lea , compared to cells carrying Leb or the CHO-K1 wild-type glycan phenotype...
July 26, 2018: Scientific Reports
Guoqing Deng, Lvao Chen, Yuqi Zhang, Sairong Fan, Wencan Li, Jianxin Lu, Xiaoming Chen
Fucosyltransferase 2 (FUT2), the enzyme catalyzing α-1,2-fucosylation in mammals, has been implicated in cancer. The up-regulation of FUT2 has been observed in lung adenocarcinoma (LUAD), and FUT2 can enhance the cell migration and invasion of LUAD cell lines. However, the underlying mechanism of FUT2 in LUAD remains largely unknown. Abundant studies have revealed that epithelial-mesenchymal transition (EMT) played a pivotal role during lung cancer metastasis and progression. In the present study, we showed that knocking down FUT2 in LUAD cell lines increased the expression of E-cadherin and reduced the expression of Vimentin, N-cadherin, TβRII, p-Smad2, p-Smad3 and Snail, which were the makers of EMT...
September 15, 2018: Experimental Cell Research
Gunn-Helen Moen, Elisabeth Qvigstad, Kåre I Birkeland, David M Evans, Christine Sommer
Background: Several observational studies have shown that low serum vitamin B-12 is associated with increased body mass index (BMI) and adverse cardiometabolic outcomes. However, it is unclear if these associations reflect a causal effect of vitamin B-12 on cardiometabolic risk factors and diseases, latent confounding, or reverse causality. Objectives: The aims of this study were to investigate 1) the possible causal relation between vitamin B-12 and indicators of body fat, lipid, and glucose variables; type 2 diabetes (T2D); and cardiovascular disease by using a 2-sample Mendelian randomization (MR) method and 2) the possible pleiotropic role of fucosyltransferase 2 (FUT2)...
August 1, 2018: American Journal of Clinical Nutrition
Martin Palus, Yahya Sohrabi, Karl W Broman, Hynek Strnad, Matyáš Šíma, Daniel Růžek, Valeriya Volkova, Martina Slapničková, Jarmila Vojtíšková, Lucie Mrázková, Jiří Salát, Marie Lipoldová
BACKGROUND: Tick-borne encephalitis (TBE) is the main tick-borne viral infection in Eurasia. Its manifestations range from inapparent infections and fevers with complete recovery to debilitating or fatal encephalitis. The basis of this heterogeneity is largely unknown, but part of this variation is likely due to host genetic. We have previously found that BALB/c mice exhibit intermediate susceptibility to the infection of TBE virus (TBEV), STS mice are highly resistant, whereas the recombinant congenic strain CcS-11, carrying 12...
July 6, 2018: BMC Neuroscience
Lucy Thorne, Angela Nalwoga, Alexander J Mentzer, Alexis de Rougemont, Myra Hosmillo, Emily Webb, Margaret Nampiija, Allan Muhwezi, Tommy Carstensen, Deepti Gurdasani, Adrian V Hill, Manj S Sandhu, Alison Elliott, Ian Goodfellow
Background: Human noroviruses (HuNoVs) are a prominent cause of gastroenteritis, yet fundamental questions remain regarding epidemiology, diversity, and immunity in sub-Saharan African children. We investigated HuNoV seroprevalence and genetic and sociodemographic risk factors in Ugandan children. Methods: We randomly screened 797 participants of a longitudinal birth cohort (Entebbe, EMaBS) and 378 from a cross-sectional survey (rural Lake Victoria, LaVIISWA), for antibodies against HuNoV genotypes by ELISA...
July 24, 2018: Journal of Infectious Diseases
Jialei Hu, Zi Wang, Yujia Shan, Yue Pan, Jia Ma, Li Jia
Osteoarthritis (OA) is a chronic joint disease and hard to cure at present. Accumulating evidence suggests long noncoding RNA-HOTAIR (lncRNA-HOTAIR) plays important role in OA progression. However, the underlying molecular mechanism of HOTAIR in OA progression has not been well elucidated. In the present study, we identified that HOTAIR level was upregulated in OA cartilage tissues. High expression of HOTAIR was correlated with modified Mankin scale, extracellular matrix (ECM) degradation and chondrocytes apoptosis...
June 15, 2018: Cell Death & Disease
Haifei Wang, Sen Wu, Jiayun Wu, Shouyong Sun, Shenglong Wu, Wenbin Bao
The FUT2 gene was considered as an important candidate for pathogenic infections, while the potential associations between this gene and the production and reproductive traits of pigs have not been explored. In this study, we detected the genetic variants of porcine FUT2 gene and analyzed the associations of the polymorphisms with FUT2 mRNA expression and production and reproductive traits (age at 100 kg, backfat thickness at 100 kg, eye muscle thickness, the number of newborn piglets, the number of weaned piglets, and birth weight) in 100 Large White sows...
February 2018: Genes & Genomics
Lynda Mottram, Gudrun Wiklund, Göran Larson, Firdausi Qadri, Ann-Mari Svennerholm
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.
April 11, 2018: Scientific Reports
Alvaro Ringressi, Veronica Cunsolo, Francesca Malentacchi, Simone Pozzessere
BACKGROUND: The Bombay phenotype is a rare genetic trait which is characterized by the absence of A, B and H antigens on red cells as well as in body secretions. The serum shows the presence of antibodies against antigen H. Patients with this rare blood type are not easily transfusable. We had observed a woman aged 18, at the 20th week of pregnancy, native of Sri Lanka, with an IgG and IgM class anti-H. We report the case and the clinical issues arisen. MATERIALS AND METHODS: The determination of ABO, Rh[D] group, the indirect antiglobulin test (IAT) were performed in tube techniques and in neutral gel microcolumn...
January 2018: Annali Dell'Istituto Superiore di Sanità
Williams Turpin, Larbi Bedrani, Osvaldo Espin-Garcia, Wei Xu, Mark S Silverberg, Michelle I Smith, David S Guttman, Anne Griffiths, Paul Moayyedi, Remo Panaccione, Hien Huynh, Hillary Steinhart, Guy Aumais, Konstantin Shestopaloff, Levinus A Dieleman, Dan Turner, Andrew D Paterson, Kenneth Croitoru
Heritability analysis of the microbiota has demonstrated the importance of host genotype in defining the human microbiota. The alpha (1,2)-fucosyltransferase 2 encoded by FUT2 is involved in the formation of the H antigen and the SNP, rs601338 is associated with ABO histo-blood group antigen secretion in the intestinal mucosa. Previous studies have provided non replicated results for the association of this polymorphism with the composition and inferred function of intestinal microbiota. We aimed to assess this relationship in a large cohort of 1,190 healthy individuals...
March 13, 2018: Gut Microbes
Thomas J Hoffmann, Elizabeth Theusch, Tanushree Haldar, Dilrini K Ranatunga, Eric Jorgenson, Marisa W Medina, Mark N Kvale, Pui-Yan Kwok, Catherine Schaefer, Ronald M Krauss, Carlos Iribarren, Neil Risch
A genome-wide association study (GWAS) of 94,674 ancestrally diverse Kaiser Permanente members using 478,866 longitudinal electronic health record (EHR)-derived measurements for untreated serum lipid levels empowered multiple new findings: 121 new SNP associations (46 primary, 15 conditional, and 60 in meta-analysis with Global Lipids Genetic Consortium data); an increase of 33-42% in variance explained with multiple measurements; sex differences in genetic impact (greater impact in females for LDL, HDL, and total cholesterol and the opposite for triglycerides); differences in variance explained among non-Hispanic whites, Latinos, African Americans, and East Asians; genetic dominance and epistatic interaction, with strong evidence for both at the ABO and FUT2 genes for LDL; and tissue-specific enrichment of GWAS-associated SNPs among liver, adipose, and pancreas eQTLs...
March 2018: Nature Genetics
Raivo Kolde, Eric A Franzosa, Gholamali Rahnavard, Andrew Brantley Hall, Hera Vlamakis, Christine Stevens, Mark J Daly, Ramnik J Xavier, Curtis Huttenhower
BACKGROUND: Despite the increasing recognition that microbial communities within the human body are linked to health, we have an incomplete understanding of the environmental and molecular interactions that shape the composition of these communities. Although host genetic factors play a role in these interactions, these factors have remained relatively unexplored given the requirement for large population-based cohorts in which both genotyping and microbiome characterization have been performed...
January 29, 2018: Genome Medicine
Huan Liu, Tingting Sui, Di Liu, Tingjun Liu, Mao Chen, Jichao Deng, Yuanyuan Xu, Zhanjun Li
The CRISPR/Cas9 system is a highly efficient and convenient genome editing tool, which has been widely used for single or multiple gene mutation in a variety of organisms. Disruption of multiple homologous genes, which have similar DNA sequences and gene function, is required for the study of the desired phenotype. In this study, to test whether the CRISPR/Cas9 system works on the mutation of multiple homologous genes, a single guide RNA (sgRNA) targeting three fucosyltransferases encoding genes (FUT1, FUT2 and SEC1) was designed...
March 20, 2018: Gene
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