{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["N/A"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00010001818"],"sample_count":["96"],"description":["EGA dataset EGAD00010001818"],"repository":["EGA"],"title":["MalariaGEN_Gambia-HLA_typing"],"pubmed_abstract":["The high prevalence of sickle haemoglobin in Africa shows that malaria has been a major force for human evolutionary selection, but surprisingly few other polymorphisms have been proven to confer resistance to malaria in large epidemiological studies. To address this problem, we conducted a multi-centre genome-wide association study (GWAS) of life-threatening Plasmodium falciparum infection (severe malaria) in over 11,000 African children, with replication data in a further 14,000 individuals. Here we report a novel malaria resistance locus close to a cluster of genes encoding glycophorins that are receptors for erythrocyte invasion by P. falciparum. We identify a haplotype at this locus that provides 33% protection against severe malaria (odds ratio = 0.67, 95% confidence interval = 0.60-0.76, P value = 9.5 × 10(-11)) and is linked to polymorphisms that have previously been shown to have features of ancient balancing selection, on the basis of haplotype sharing between humans and chimpanzees. Taken together with previous observations on the malaria-protective role of blood group O, these data reveal that two of the strongest GWAS signals for severe malaria lie in or close to genes encoding the glycosylated surface coat of the erythrocyte cell membrane, both within regions of the genome where it appears that evolution has maintained diversity for millions of years. These findings provide new insights into the host-parasite interactions that are critical in determining the outcome of malaria infection."],"pubmed_title":["A novel locus of resistance to severe malaria in a region of ancient balancing selection."],"pubmed_authors":["Band Gavin G, Rockett Kirk A KA, Spencer Chris C A CC, Kwiatkowski Dominic P DP"],"name_synonyms":["Republic of the Gambia."],"description_synonyms":["l(3)trio, study, TRIO, ARHGEF23, BEST:LD36950, wide/broad, Genomes, Plasmodium Infection, Infections, l(3)036810, M89, tgat, Plasmodium, CG9208, Remittent, 1386/06, l(3)S137203, whole genome, broad, CG18214, l(3)S095914, Plasmodium Infections, Trio, DmelCG18214, 1372/03, wide, l(3)S[1386/06], UNC-73/Trio., 0368/10, Fever, DTrio, l(3)S[1372/3], l(3)6D104, Remittent Fever, Infection, 0959/14, l(3)S138606, l(3)S036810, Marsh, plasmodiosis, Severe, Marsh Fever, Paludism"],"pubmed_title_synonyms":["Plasmodium Infections, geographical area, positional, positional polypeptide feature, Plasmodium Infection, Infections, region or site annotation, Fever, Remittent Fever, Infection, Plasmodium, sequence, Remittent, selection process., Marsh, plasmodiosis, Severe, Marsh Fever, Paludism, primary structure of sequence macromolecule"],"pubmed_abstract_synonyms":["Host Parasite Relations, Genome-Wide Association, Plasma Membranes, Materials, Period Prevalence, acetylglucosaminyltransferase-like protein, selection process, Whole Genome Association Study, Addresses, Mbp1, RBC, Infestations and Infections, Progress Reports, Parasite-Host Relations, Point Prevalence, Ss Erythrocyte Membrane Sialoglycoproteins, Roles, Summary Report, Point Prevalences, symptoms, Concepts, Erythrocyte Sialoglycoproteins, myd, Summary Reports, Epidemiologic Study, integumentum commune, GWA Study, Glycophorin A(M), Man (Taxonomy), like-acetylglucosaminyltransferase, Progress Report, Genomes, Prevalences, red blood corpuscle, entire life cycle, Mbp-1, Chimpanzee troglodytes, Genome-Wide Association Studies, inner endospore membrane, Progress, set, plasma membrane lipid bilayer, Field Reports, plasmalemma, Fever, falciparums, Role Concepts, Red, Plasma Membrane, Infections and Infestations, Parasite-Host Interactions, Glycophorin, Relationship, Marsh, Pan, Parasite Host Interactions, Glycophorin A, Ss, close to, Glycophorin C, screening, Prevalence, Glycophorin B, Glycophorin E, Glycophorin D, external covering of organism, gyltl1b-b, Glycoconnectin, Epidemiologic, frequency, Modern, Plasmodium, Sialoglycoprotein, Red Blood Cell, organism surface, Epidemiological Studies, Genome-Wide, Haplotype, cellular membrane, Interaction, Role Concept, juxtamembrane, Investigative Report, Genome Wide Association Study, MDDGA6, mKIAA0609, Role, Genetic Materials, Ss Sialoglycoprotein, Red Blood Corpuscle, bacterial inner membrane, Whole Genome Association Analysis, KIAA0609, clinical infection., Parasite-Host Interaction, acetylglucosaminyltransferase-like 1A, Genetic Material, fg, Parasite-Host, Blood Cell, gyltl1b, cell membrane, Plasmodium Infection, Plasmodium (Laverania) falciparum, life, red blood cell, mdc1d, Field, Relation, Relationships, signs, Infection and Infestation, whole genome, Pan troglodyte, surveillance, LARGE_HUMAN, Children, morbidity, human, Host Parasite Relationship, MDC1D, Red Blood Corpuscles, Report, enr, Material, Red Blood Cells, integumentary system, Erythrocyte, Cistron, Association Study, Blood Corpuscles, dermal system, humans, Gruppe, lifespan, human being, MN Sialoglycoprotein, Genome Wide Association Analysis, Cytoplasmic Membrane, Remittent, Gene, Parasite-Host Relation, Period Prevalences, LARGE1, froggy, Gyltl1a, Human, Plasmodium Infections, surface, GWA Studies, Investigative, Homo sapiens, Relations, resistance, Studies, Red Blood Cell Membrane Sialoglycoprotein, Host-Parasite, Blood Corpuscle, Man, Host-Parasite Relationships, Host Parasite Interactions, Genetic, Infections, occurrence, entire lifespan, MDDGB6, beta Sialoglycoprotein, GWA, prevalence, Host-Parasite Relation, LARGE, clinical infection, Host-Parasite Relations, Genome Wide Association Scan, Cytoplasmic, Study, BPFD#36, Infestation and Infection, beta-Sialoglycoprotein, grupos, Cytoplasmic Membranes, chimpanzees, African unspecified, Investigative Reports, Plasmodium falciparums, plasmodiosis, Marsh Fever, Paludism, Epidemiological, integral to plasma membrane, incidence, troglodyte, Chimpanzees, findings, grupo, whole blood, integral component of plasma membrane, Sialoglycoproteins, Glycophorin HA, Chimpanzee, Cistrons, Cell, group, Concept, near to, MN, Period, Chimpanzee troglodyte, Research Reports, Infection, Epidemiological Study, Cell Membranes, outbreaks, Glycoconnectins, Blood Cells, Plasma, Membranes, Host-Parasite Interaction, ensemble, body surface, Parasite Host Relations, Rest, Membrane, endemics, Genome Wide Association Studies, like-glycosyltransferase, Host-Parasite Relationship, Reports, Point, approaches, troglodytes, Modern Man, vicinity of, Remittent Fever, Association Studies, epidemics, cytoplasmic membrane, malaria parasite P. falciparum, Summary, groupe, Interactions, Severe, Field Report, glycosyltransferase-like protein LARGE1"],"additional_accession":[]},"is_claimable":false,"name":"MalariaGEN_Gambia-HLA_typing","description":"EGAS00001001311: Genome-wide study of resistance to severe malaria in eleven worldwide populations: Gambian trio HLA typing","dates":{"updated":"2020-01-29 13:52:00"},"accession":"EGAD00010001818","cross_references":{"TAXONOMY":["9606"],"pubmed":["26416757"],"EGA":["EGAC00001001201","EGAS00001001311"]}}