Keywords: MAF، فرکانس آلل جزئی; TCGA, The Cancer Genome Atlas; GWAS, genome-wide association studies; eQTL, expression quantitative trait loci; SNP, single nucleotide polymorphism; MAF, minor allele frequency; HWE, Hardy–Weinberg equilibrium; LD, linkage disequilibrium; CI, confidence i
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Keywords: MAF، فرکانس آلل جزئی; CSF, cerebrospinal fluid; FDR, False Discovery Rate; GATK, genome analysis tool kit; GOS, Glasgow Outcome Scale; HWE, Hardy–Weinberg equilibrium; IPD, invasive pneumococcal disease; LTA, lipoteichoic acid; MAF, minor allele frequency; MDS, multidimensiona
Keywords: MAF، فرکانس آلل جزئی; SNP, single nucleotide polymorphism; GWAS, genome-wide association study; EBRT, external bean radiotherapy; BED, biologic effective dose; MAF, minor allele frequency; STAT, standardized total average toxicity; PCA, principle components analysis; TURP, tra
Keywords: MAF، فرکانس آلل جزئی; PCGC, phenotype correlation–genotype correlation; GCTA, genome-wide complex trait analysis; GWASs, genome wide association studies; REML, restricted maximum likelihood test; GRM, genetic relatedness matrix; MAF, minor allele frequency; SNP, single nucleot
Keywords: MAF، فرکانس آلل جزئی; MS, multiple sclerosis; GWAS, genome wide association study; RR-MS, relapsing–remitting MS; SP-MS, secondary progressive MS; PP-MS, primary progressive MS; CD–CV, common disease–common variant; MAF, minor allele frequency; MHC, major histocompatibility co
Keywords: MAF، فرکانس آلل جزئی; AED, anti-epileptic drug; MAF, minor allele frequency; n, number; QC, quality control; SUDEP, sudden unexpected death in epilepsy; WES, whole-exome sequencingEpilepsy; Death; Mortality; Severity; Association; Burden
Keywords: MAF، فرکانس آلل جزئی; IL-10, interleukin-10; DLBCL, diffuse large B-cell lymphoma; SNPs, single nucleotide polymorphisms; HWE, Hardy–Weinberg equilibrium; CI, confidence interval; OR, odds ratio; et al., et alia; NHL, non-Hodgkin's lymphoma; MAF, minor allele frequency; AS-PCR
Keywords: MAF، فرکانس آلل جزئی; IL-23, interleukin-23; IL23R, Interleukin-23 receptor; SNP, single nucleotide polymorphism; Th17, T-helper 17; OR, odds ratios; 95% CI, 95% confidence interval; 3′-UTR, 3′-untranslated region; MAF, minor allele frequency; HWE, Hardy–Weinberg equilibriumIL
Keywords: MAF، فرکانس آلل جزئی; AD, Alzheimer Disease; CHB, Chinese Han Beijing; CVD, cardiovascular disease; GWAS, genome-wide association study; MAF, minor allele frequency; OR, odds ratio; PD, Parkinson Disease; PCR, polymerase chain reaction; SNP, single nucleotide polymorphism.Card
Keywords: MAF، فرکانس آلل جزئی; BMI, Body mass index; CNV, Copy number variants; CPG, cytosine-phosphate-guanine; GCTA, Genome-wide complex trait analysis; GWAS, Genome-wide association study; ITMAT, Institute for Translational Medicine and Therapeutics; MAF, Minor allele frequency; PPA
Keywords: MAF، فرکانس آلل جزئی; mGWAS, metabolite genome wide association study; MAF, minor allele frequency; SNP, single nucleotide polymorphism; LD, linkage disequilibrium; eQTL, expression quantitative trait locus; GIM, genetically influenced metabotype; MS, mass spectrometry; GC, ga
Keywords: MAF، فرکانس آلل جزئی; congenital heart defects; gene panel; molecular diagnosisCHD, congenital heart disease; CI, confidence interval; DNA, deoxyribonucleic acid; ELN, elastin gene; MAF, minor allele frequency; NGS, next-generation sequencing
Keywords: MAF، فرکانس آلل جزئی; MAF, Minor Allele Frequency; IQ, Intelligence Quotient; EQ, Emotional Quotient; FAAH1, Fatty-Acid Amide Hydrolase 1; ANKK1, Ankyrin Repeat and Kinase Associated Containing 1; SNAP-25, Synaptosomal-Associated Protein, 25 kDa; BDNF, Brain-Derived Neurotroph
Keywords: MAF، فرکانس آلل جزئی; GWAS, genome-wide association study; SNP, single nucleotide polymorphism; PD, Parkinson's disease; SNCA, alpha-synuclein; OR, odds ratio; CI, confidence interval; MAF, minor allele frequency; UTR, untranslated region; UPDRS, Unified Parkinson's Disease Ra
Impacts of common variants in ALDH2 on coronary artery disease patients
Keywords: MAF، فرکانس آلل جزئی; GWAS, genome-wide association studies; ALDH2, aldehyde dehydrogenase 2; CAD, coronary artery disease; 4-HNE, 4-hydroxy-2-nonenal; MAF, minor allele frequency; HWE, Hardy Weinberg equilibriumALDH2; Common variant; Coronary artery disease; Outcome
Protective effects of HLA-DPA1/DPB1 variants against Hepatitis B virus infection in an Indonesian population
Keywords: MAF، فرکانس آلل جزئی; HBV, Hepatitis B virus; SNP ID, single-nucleotide polymorphism identification number; HLA, Human Leucocyte Antigen; MAF, minor allele frequency; HC, healthy controls; SRH, spontaneously resolved HBV infection; ALD, HBV-related advanced liver disease; NALD
A letter on ABCB4 from Iceland: On the highway to liver disease
Keywords: MAF، فرکانس آلل جزئی; GWAS, Genome-wide association study; WGS, Whole-genome sequencing; MAF, Minor allele frequency; SNP, Single nucleotide polymorphism; OMIM, Online Mendelian Inheritance in Man; ABC, ATP-binding cassette; OR, Odds ratio; P, Protein amino acid position; MYL,
Docosahexaenoic acid (DHA) supplementation in pregnancy differentially modulates arachidonic acid and DHA status across FADS genotypes in pregnancy
Keywords: MAF، فرکانس آلل جزئی; ARA, arachidonic acid; DHA, docosahexaenoic acid; M/m, major/minor alleles; MAF, minor allele frequency; RBCs, red blood cells; SNP, single nucleotide polymorphismArachidonic acid; Docosahexaenoic acid; FADS SNPs; Pregnancy
C-reactive protein gene variants associated with recurrent pregnancy loss independent of CRP serum levels: A case-control study
Keywords: MAF، فرکانس آلل جزئی; BMI, body mass index; CI, confidence intervals; CRP, C-reactive protein; MAF, minor allele frequency; OR, odds ratios; RPL, recurrent pregnancy loss; SNP, single nucleotide polymorphismAlleles; Inflammation; Polymorphisms; Recurrent pregnancy loss
Association of LRP5, TCF7L2, and GCG variants and type 2 diabetes mellitus as well as fasting plasma glucose and lipid metabolism indexes
Keywords: MAF، فرکانس آلل جزئی; SNP, single nucleotide polymorphism; TCF7L2, transcription factor 7-like 2; GLP-1, glucagon like peptide-1; CI, confidence interval; OR, odds ratio; BMI, body mass index; T2DM, type 2 diabetes mellitus; MAF, minor allele frequency; LD, linkage disequilibr
Is there any relationship between polymorphism of Heat Shock Protein 70 genes and Pemphigus foliaceus?
Keywords: MAF، فرکانس آلل جزئی; PF, Pemphigus foliaceus; SNP, single nucleotide polymorphism; MAF, minor allele frequency; HWE, Hardy-Weinberg equilibrium; OR, odds ratios; LD, linkage disequilibriumPemphigus foliaceus; Heat Shock Protein 70; Gene; Polymorphism; HLA-DR3; Tunisia
Polymorphism in mature microRNA-608 sequence is associated with an increased risk of nasopharyngeal carcinoma
Keywords: MAF، فرکانس آلل جزئی; miRNA, microRNA; NPC, nasopharyngeal carcinoma; EBV, Epstein–Barr virus; MAF, minor allele frequency; OR, odds ratio; HWE, Hardy–Weinberg equilibriummicroRNA-608; Polymorphism; Nasopharyngeal carcinoma; Epstein–Barr virus; Susceptibility
Collective effects of SNPs on transgenerational inheritance in Caenorhabditis elegans and budding yeast
Keywords: MAF، فرکانس آلل جزئی; MAF, minor allele frequency; MAC, minor allele content; HMAC, high minor allele content; LMAC, low minor allele content; QTL, quantitative trait loci; FDR, false discovery rateCollective effects; Transgenerational inheritance; Minor allele content (MAC);
Identification of functional SNPs potentially served as a genetic risk factor for the pathogenesis of parakeratosis in the gene encoding human deoxyribonuclease I-like 2 (DNase 1L2) implicated in terminal differentiation of keratinocytes
Keywords: MAF، فرکانس آلل جزئی; BLAST, basic local alignment search tool; DNase 1L2, deoxyribonuclease I-like 2; DNase 1L1, DNase I-like 1/DNase X/DNase Xib; DNase 1L3, DNase γ/DNase I-like 3; MAF, minor allele frequency; RFLP, restriction fragment length polymorphism; RNAi, RNA interfe
Platelet Count Mediates the Contribution of a Genetic Variant in LRRC 16A to ARDS Risk
Keywords: MAF، فرکانس آلل جزئی; ALI, acute lung injury; DIC, disseminated intravascular coagulation; MAF, minor allele frequency; MGH, Massachusetts General Hospital; PLT, platelet count; QC, quality control; QTL, quantitative trait locus; SNP, single-nucleotide polymorphism
Polymorphisms of transcription factor-7-like 2 (TCF7L2) gene in Tunisian women with polycystic ovary syndrome (PCOS)
Keywords: MAF، فرکانس آلل جزئی; BMI, body-mass index; HOMA-IR, homeostasis model assessment for insulin resistance; HWE, Hardy–Weinberg equilibrium; MAF, minor allele frequency; PCOS, polycystic ovary syndrome; SNP, single nucleotide polymorphism; T2DM, type 2 diabetes; TCF7L2, transcri
Genetic polymorphisms of IFNG and IFNGR1 in association with the risk of pulmonary tuberculosis
Keywords: MAF، فرکانس آلل جزئی; TB, tuberculosis; MTB, Mycobacterium tuberculosis; IFNG, interferon-gamma; IFNGR, interferon-gamma receptor; SNP, single nucleotide polymorphism; MAF, minor allele frequency; PCR, polymerase chain reaction; OR, odds ratio; CI, confidence interval; SD, sta
Three single nucleotide variants of the HDAC gene are associated with type 2 diabetes mellitus in a Chinese population: A community-based case–control study
Keywords: MAF، فرکانس آلل جزئی; Type 2 DM, type 2 diabetes mellitus; SNP, single nucleotide polymorphism; HDACs, histone deacetylases; IGR, impaired glucose regulation; MAF, minor allele frequency; BMI, body mass index; ORG, generalized odds ratioCase–control study; Histone deacetylase;
Genetic variations in VDR associated with prostate cancer risk and progression in a Korean population
Keywords: MAF، فرکانس آلل جزئی; VDR, vitamin D receptor; SNP, single nucleotide polymorphism; GWAS, genome-wide association studies; PSA, prostate-specific antigen; BPH, benign prostate hyperplasia; TURP, transurethral resection of the prostate; MAF, minor allele frequency; LD, linkage
Multi-allelic haplotype association identifies novel information different from single-SNP analysis: A new protective haplotype in the LRP8 gene is against familial and early-onset CAD and MI
Keywords: MAF، فرکانس آلل جزئی; CAD, coronary artery disease; MI, myocardial infarction; LRP8, low density lipoprotein receptor-related protein 8; SNP, single nucleotide polymorphism; LD, linkage disequilibrium; TDT, transmission/disequilibrium test; MAF, minor allele frequency; OR, odd
Further evidence for the contribution of the vascular endothelial growth factor gene in coronary artery disease susceptibility
Keywords: MAF، فرکانس آلل جزئی; AMI, acute myocardial infarction; CABG, coronary artery bypass graft; CAD, coronary artery disease; CHB, Chinese Han in Beijing; CI, confidence interval; EDTA, ethylenediamine tetraacetic acid; LPS, lipopolysaccharide; MAF, minor allele frequency; OR, odd
Common variant in FUT2 gene is associated with levels of vitamin B12 in Indian population
Keywords: MAF، فرکانس آلل جزئی; HC, haptocorrin; IF, intrinsic factor; TCII, Transcobalamin II; GWAS, genome-wide association study; SNP, single nucleotide polymorphism; CAD, coronary artery disease; MAF, minor allele frequency; dbSNP, single nucleotide polymorphism database; FUT2, fuco
Impact of genetic polymorphisms in base excision repair genes on the risk of breast cancer in a Korean population
Keywords: MAF، فرکانس آلل جزئی; SNP, single nucleotide polymorphism; BC, breast cancer; BER, base excision repair; AP, apurinic/apyrimidinic; APEX1, APEX nuclease (multifunctional DNA repair enzyme) 1; OGG1, 8-oxoguanine DNA glycosylase; MAF, minor allele frequency; OR, odds ratio; 95%
A potentially functional polymorphism in the regulatory region of let-7a-2 is associated with an increased risk for diabetic nephropathy
Keywords: MAF، فرکانس آلل جزئی; DM, diabetes mellitus; DN, diabetes mellitus with diabetic nephropathy; SNP, single nucleotide polymorphism; PCR-RFLP, PCR-restriction fragment length polymorphism; LD, linkage disequilibrium; MAF, minor allele frequency; UARE, urinary albumin excretion r
SNP identification in FBXO32 gene and their associations with growth traits in cattle
Keywords: MAF، فرکانس آلل جزئی; FBXO32, F-box protein 32; PCR–RFLP, polymerase chain reaction–restriction fragment length polymorphism; PCR-ACRS, PCR-based amplification-created restriction site; SNP, single nucleotide polymorphisms; bp, base pairs; MAF, minor allele frequency; HWE, Har
Multiple polymorphisms within the PLCE1 are associated with esophageal cancer via promoting the gene expression in a Chinese Kazakh population
Keywords: MAF، فرکانس آلل جزئی; SNPs, Single nucleotide polymorphisms; PLCE1, Phospholipase C epsilon 1; ESCC, Esophageal squamous cell carcinoma; GWAS, Genome wide association study; 95% CI, 95% confidence interval; OR, Odds ratio; MAF, Minor allele frequency; LD, Linkage disequilibriu
Cytokine gene polymorphisms in Tunisian endemic pemphigus foliaceus: A possible role of il-4 variants
Keywords: MAF، فرکانس آلل جزئی; Abs, antibodies; PF, pemphigus foliaceus; Dsg1, desmoglein 1; SNP, single nucleotide polymorphism; MAF, minor allele frequency; HWE, Hardy–Weinberg equilibrium; OR, odds ratios; LD, linkage disequilibrium
Hypospadias and Genes Related to Genital Tubercle and Early Urethral Development
Keywords: MAF، فرکانس آلل جزئی; genes; hypospadias; penis; urethraBPA, British Pediatric Association; MAF, minor allele frequency; SNP, single nucleotide polymorphism
Zea mays (L.) P1 locus for cob glume color identified as a post-domestication selection target with an effect on temperate maize genomes
Keywords: MAF، فرکانس آلل جزئی; GLM, general linear model; GWAS, genome-wide association study; kb, kilobase pair; LD, linkage disequilibrium; MAF, minor allele frequency; Mb, megabase pair; MLM, mixed linear model; OPV, open-pollinated varietiesGenome-wide association study; Artificial
Proteins and Domains Vary in Their Tolerance of Non-Synonymous Single Nucleotide Polymorphisms (nsSNPs)
Keywords: MAF، فرکانس آلل جزئی; nsSNP, non-synonymous single nucleotide polymorphism; SNP, single nucleotide polymorphism; PPI, protein–protein interaction; MAF, minor allele frequency; GO, Gene Ontology; MHC, major histocompatibility complex; IDR, intrinsically disordered region; MSA,
Genetic variants in epoxide hydrolases modify the risk of oligozoospermia and asthenospermia in Han-Chinese population
Keywords: MAF، فرکانس آلل جزئی; EPHX1, epoxide hydrolase 1; EPHX2, epoxide hydrolase 2; PAHs, polycyclic aromatic hydrocarbons; HCAs, heterocyclic amines, NOCs, N-nitroso compounds; SNP, single nucleotide polymorphism; MAF, minor allele frequency; BMI, body mass index; OR, odds ratio; C
A common variant near the KCNJ2 gene is associated with T-peak to T-end interval
Keywords: MAF، فرکانس آلل جزئی; Electrocardiogram; Repolarization; T wave; Gene; PolymorphismECG, electrocardiogram; FHS, Framingham Heart Study; MAF, minor allele frequency; SNP, single nucleotide polymorphism; TPE, T-peak to T-end
Characterisation of two deletions involving NPC1 and flanking genes in Niemann–Pick Type C disease patients
Keywords: MAF، فرکانس آلل جزئی; NPC, Niemann–Pick type C; NPC1, NPC1 gene; NPC2, NPC2 gene; QMPSF, quantitative multiplex PCR of short fluorescent fragments; NMD, nonsense-mediated mRNA decay; MAF, minor allele frequency; MLPA, multiplex ligation probe amplification; CNVs, copy number v
Genetic susceptibility to Kawasaki disease: Analysis of pattern recognition receptor genes
Keywords: MAF، فرکانس آلل جزئی; CAL, coronary artery lesion; CLR, C-type lectin receptor; IVIG, intravenous immunoglobulin; KD, Kawasaki disease; LD, linkage disequilibrium; MAF, minor allele frequency; NLR, nod-like receptor; PAMP, pathogen-associated molecular pattern; PGLYRP, peptido
Lectin complement pathway gene profile of the donor and recipient does not influence graft outcome after kidney transplantation
Keywords: MAF، فرکانس آلل جزئی; IRI, Ischemia reperfusion injury; MBL, Mannose-binding lectin; MASP, MBL-associated serine proteases; FCN, Ficolin; SNP, Single nucleotide polymorphism; PNF, Primary non-function; DGF, Delayed graft function; MAF, Minor allele frequency; LP, Low producing
Epistatic Effects of Potassium Channel Variation on Cardiac Repolarization and Atrial Fibrillation Risk
Keywords: MAF، فرکانس آلل جزئی; atrial cell modeling; familial atrial fibrillation; genetics; potassium channelsAF, atrial fibrillation; AP, action potential; APD, action potential duration; CHO, Chinese hamster ovary; DNA, deoxyribonucleic acid; MAF, minor allele frequency; WT, wild-ty
Association study of MC4R with complex obesity and replication of the rs17782313 association signal
Keywords: MAF، فرکانس آلل جزئی; GWAS, genome-wide association study; SNP, single nucleotide polymorphism; MC4R, melanocortin-4 receptor; BMI, body mass index; MAF, minor allele frequency; FDR, false discovery rate; OR, odds ratio; PMAIP1, phorbol-12-myristate-13-acetate-induced protein
Association of variants in the carnosine peptidase 1 gene (CNDP1) with diabetic nephropathy in American Indians
Keywords: MAF، فرکانس آلل جزئی; CNDP1, carnosine peptidase 1 gene; ESRD, end-stage renal disease; FPG, fasting plasma glucose; GFR, glomerular filtration rates; HWE, Hardy–Weinberg equilibrium; MAF, minor allele frequency; NCRR, National Center for Research Resources; NIH, National Inst
Association studies of excision repair cross-complementation group 1 (ERCC1) haplotypes with lung and head and neck cancer risk in a Caucasian population
Keywords: MAF، فرکانس آلل جزئی; NER, nucleotide excision repair; ERCC1, excision repair cross-complementation group 1; H&N, head and neck; SNP, single nucleotide polymorphism; XP, xeroderma pigmentosum; LD, linkage disequilibrium; MAF, minor allele frequency; EM, expectation maximizatio
Glutathione enzyme and selenoprotein polymorphisms associate with mercury biomarker levels in Michigan dental professionals
Keywords: MAF، فرکانس آلل جزئی; CRM, certified reference material; GST, glutathione s-transferase; Hg, mercury; MAF, minor allele frequency; MDA, Michigan Dental Association; NHANES, National Health and Nutrition Examination Survey; ln, natural log; SNP, single nucleotide polymorphism;