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ChromosomesChromosome MappingX ChromosomeChromosome BandingChromosome AberrationsChromosomes, Human, Pair 1Sex ChromosomesChromosomes, HumanGenetic LociChromosomes, BacterialChromosomes, Human, Pair 7Chromosome SegregationChromosomes, Human, Pair 11Chromosomes, Human, Pair 17Chromosomes, Human, Pair 9Chromosomes, Human, Pair 6Chromosome DeletionChromosomes, Human, Pair 21Chromosomes, FungalChromosomes, PlantChromosomes, Human, Pair 2Genetic LinkageChromosomes, Human, 6-12 and XChromosomes, MammalianChromosomes, Human, Pair 16Chromosomes, Human, Pair 13Chromosomes, Human, Pair 22Chromosomes, Human, Pair 4Chromosomes, Human, Pair 10Chromosomes, Human, Pair 19Chromosome PairingChromosomes, Human, Pair 8Quantitative Trait LociChromosomes, Artificial, BacterialChromosomes, Human, Pair 12Chromosomes, Human, YChromosomes, Human, Pair 5Genetic MarkersChromosome DisordersChromosomes, Human, XChromosomes, Human, Pair 15Chromosomes, Human, 1-3Chromosome PaintingChromosomes, Human, Pair 14KaryotypingIn Situ Hybridization, FluorescenceChromosomes, Human, Pair 18Chromosomes, Artificial, YeastChromosomes, Human, 16-18Molecular Sequence DataChromosomes, Human, Pair 20Chromosomes, Human, 13-15Base SequenceChromosome BreakageChromosomes, Human, 21-22 and YChromosome InversionRing ChromosomesMicrosatellite RepeatsCrosses, GeneticChromosomes, Human, 4-5Chromosome PositioningLod ScorePhenotypeMutationRecombination, GeneticPedigreeX Chromosome InactivationCentromereTranslocation, GeneticHybrid CellsChromosomes, InsectGenotypeChromosome StructuresMeiosisChromosomes, Human, 19-20AneuploidyMitosisMetaphaseModels, GeneticCloning, MolecularSequence Analysis, DNAGenetic VariationAmino Acid SequenceDNAPolymorphism, GeneticBlotting, SouthernPolymorphism, Single NucleotidePolymerase Chain ReactionNucleic Acid HybridizationGenetic Predisposition to DiseaseGenesHeterozygoteAllelesEvolution, MolecularTrisomyChromosome WalkingTelomereNondisjunction, GeneticDrosophila melanogasterMultigene Family
Breast cancer susceptibilitySusceptibility lociCoronary arteryEncodesCDKN2ASingle-nucleotide poGenesGeneLinkageGeneticFindingsAbnormalitiesHumanDiseaseProgressionProteinStudiesRiskCellResultsSusceptibilityGenome-wide asVariantsAtherosclerosisInk4Linkage disequilibriumHypothesisGWASSNPsSituated on thSeverityFindings and conclusionsInvestigateAlleleSingleRESULTSData
Breast cancer susceptibility1
  • Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). (escholarship.org)
Susceptibility loci1
  • These similarities point towards the possibility that both diseases have common underlying pathogenic mechanisms, modulated by shared genetic susceptibility loci. (biomedcentral.com)
Coronary artery1
  • We suspect that genes or loci that contribute to coronary artery disease (CAD) may also play a role in the pathogenesis of gout, since hyperuricaemia leads to gout, and serum uric acid (SUA) levels are potential risk factors for CAD. (her2signaling.com)
Encodes2
  • INK4 locus is located on human chromosome 9p21 region and encodes three tumor suppressor genes, p15, p16 and ARF. (esmo.org)
  • The tumor suppressor gene p16/cyclin-dependent kinase inhibitor-2A (CDKN2A) is located within the chromosomal region 9p21 and encodes a cell-cycle protein that is an inhibitor of cyclin-dependent kinases (CDK)-4 and -6. (iiarjournals.org)
CDKN2A1
  • In particular, the p16/cyclin-dependent kinase inhibitor 2A (CDKN2A) gene located on chromosomal region 9p21 frequently is altered in several types of cancer. (iiarjournals.org)
Single-nucleotide po2
  • In addition, a number of different genetic determinants of IS risk have been identified in genome-wide association studies, with single-nucleotide polymorphisms (SNPs) in 9p21, PITX2, HDAC9, ABO, NINJ2, ALDH2, and TSPAN2, all being linked with stroke susceptibility [ 2 ]. (hindawi.com)
  • RESEARCH DESIGN AND METHODS- We assessed index single nucleotide polymorphisms (SNPs) for the 18 independent loci in 2,598 control subjects and 2,309 case subjects from the Genetics of Diabetes Audit and Research Tayside Study. (diabetesjournals.org)
Genes4
  • So far, we revealed that a long non-coding RNA (lncRNA), ANRIL, transcribed from INK4 locus represses the transcription of p15 and p16 genes. (esmo.org)
  • The expression analysis of INK4 locus genes was performed by quantitative reverse transcription-polymerase chain reaction (Q-RT-PCR). (esmo.org)
  • A genetic aetiology has been identified in up to 20% of apparently "sporadic" and 60% of familial ALS cases, in which two or more family members are clinically affected, with at least 16 genes and genetic loci implicated in ALS pathogenesis. (acnr.co.uk)
  • This result strengthens support for the hypothesis that shared susceptibility genes within this chromosomal locus might be involved in the pathogenesis of both CHD and gAgP. (biomedcentral.com)
Gene8
  • selection for greater longevity in males, as suggested by the patriarch hypothesis, could extend female lifespan, provided such a gene is not on the Y chromosome. (wikipedia.org)
  • Materials and Methods: To investigate both the presence of numerical abnormalities of chromosome 9 and p16 gene alterations in ovarian cancer, we studied 28 cases by the fluorescence in situ hybridization (FISH) technique using a DNA p16 probe and an a-satellite probe specific for chromosome 9. (iiarjournals.org)
  • Conclusion: Numerical aberrations of chromosome 9 and p16 gene deletion are common findings in ovarian cancer. (iiarjournals.org)
  • Data suggest that the p16 gene, located in the short arms of chromosome 9, may play a role in ovarian carcinogenesis. (iiarjournals.org)
  • The aim of the present study was to determine the significance of this tumor suppressor gene for ovarian tumorigenesis, investigating both numerical aberrations of chromosome 9 and p16 gene alterations in 28 cases of ovarian tumors, by the fluorescence in situ hybridization (FISH) technique. (iiarjournals.org)
  • No prior knowledge of gene or gene effects is necessary, but the genetic locus must have sufficient impact on the disease susceptibility to be detectable. (scialert.net)
  • The CETP gene is located on chromosome 16q21. (biomedcentral.com)
  • GAS5 is found on chromosome 1q25.1, with the gene containing 12 exons across a 4.087 kb region, coding for 29 different GAS5 splicing variants [ 11 ]. (hindawi.com)
Linkage3
  • All studies reported a strong association of a region of elevated linkage disequilibrium (LD) on human chromosome 9p21.3 with CHD. (biomedcentral.com)
  • Mutations in SPAG8 were not encountered in 34 other unexplained ALS pedigrees, including 1 with linkage to chromosome 9p13.223.3. (cdk-receptor.com)
  • The shared haplotype containing the SPAG8 variant selleck products in this small pedigree was 22.7 Mb and overlapped with the core 9p21 linkage locus for ALS and frontotemporal dementia. (cdk-receptor.com)
Genetic2
  • We now report confirmation of this locus in congenic strains carrying the MOLF-derived susceptibility allele in the C57BL/6J-Ldlr Ϫ/Ϫ genetic background. (scite.ai)
  • As for AgP, it has been known for a long time that CHD is strongly influenced by genetic factors [ 6 ], but it was not until recently that genetic risk loci contributing to the development of the disease were identified. (biomedcentral.com)
Findings1
  • Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. (cdc.gov)
Abnormalities2
  • Chromosome analyses showed numeral abnormalities such as 5n ploidies and various kinds of structural abnormalities, such as deletions, translocations, derivatives and isodicentric chromosomes. (biomedcentral.com)
  • Results: Numerical abnormalities of chromosome 9 were found in all studied cases. (iiarjournals.org)
Human3
  • Interestingly, comparative mapping revealed that the Athsq1 congenic interval contains the mouse region homologous to a widely-replicated CHD locus on human chromosome 9p21. (scite.ai)
  • However, INK4a/ARF situated on the human chromosome 9p21 does appear to act as a tumour suppressor therefore extending longevity. (wikipedia.org)
  • Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of human diseases including amyotrophic lateral sclerosis, Friedreich ataxia, Huntington disease, and fragile X syndrome. (biomedcentral.com)
Disease3
  • Improving our understanding of these mutations would increase our knowledge of the mutational dynamics of the genome and may uncover additional loci that contribute to disease. (biomedcentral.com)
  • Some of these tools are designed to detect STR expansions at disease-related loci, while others detect expansions and contractions of STRs genome-wide but are constrained by sequencing read length and the STR motif size. (biomedcentral.com)
  • A novel rare coding variant in SPAG8 on chromosome 9p13.3 segregated with the disease and was not observed in controls. (cdk-receptor.com)
Progression1
  • In conclusion, BMSC-derived exosomal PTENP1 suppressed the BC progression by upregulating the expression of SCARA5 via sponging miR-17, offering a potential novel therapeutic target for BC therapy. (bvsalud.org)
Protein1
  • ANRIL associates with polycomb protein complexes and recruits them on INK4 locus, leading to the transcriptional repression. (esmo.org)
Studies1
  • The single nucleotide polymorphism (SNP) rs1333049 (C/ G) on chromosome 9p21 has been implicated in previous studies to be associated with CAD. (her2signaling.com)
Risk2
  • Methods and Results-We previously identified atherosclerosis susceptibility QTL (Athsq1) on chromosome 4 acting independently of systemic risk factors. (scite.ai)
  • Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. (escholarship.org)
Cell1
  • In this study, we showed that LION is involved in the transcriptional regulation of INK4 locus and cell proliferation. (esmo.org)
Results1
  • Results & conclusion: RMRP and SCARA5 exhibited an inverse correlation. (bvsalud.org)
Susceptibility3
  • Recent genome-wide association studies (GWASs) on coronary artery disease (CAD) and MI implicated chromosome 9 on p21.3 locus in increasing susceptibility to MI [ 12 ]. (biomedcentral.com)
  • This result strengthens support for the hypothesis that shared susceptibility genes within this chromosomal locus might be involved in the pathogenesis of both CHD and gAgP. (biomedcentral.com)
  • These similarities point towards the possibility that both diseases have common underlying pathogenic mechanisms, modulated by shared genetic susceptibility loci. (biomedcentral.com)
Genome-wide as1
  • RATIONALE: Human genome-wide association studies have identified genetic variants in the chromosome 9p21 region that confer increased risk of coronary artery disease and other age-related diseases. (isciii.es)
Variants2
  • Several genetic studies have demonstrated an association between genetic variants in a region on chromosome 9p21 and in a region on chromosome 16q22 with myocardial infarction (MI) and atrial fibrillation (AF) accompanied by cerebral infarction (CI), respectively. (biomedcentral.com)
  • These variants are located in a block of high linkage disequilibrium with the neighboring Ink4/Arf tumor-suppressor locus (also named CDKN2A/CDKN2B). (isciii.es)
Atherosclerosis1
  • Since previous studies suggest an atheroprotective role of the Ink4/Arf locus, here we assessed whether gain-of-function of the encoded genes can be exploited therapeutically to reduce atherosclerosis. (isciii.es)
Ink43
  • METHODS: Generation and characterization of apolipoprotein E-null mice carrying an additional transgenic copy of the entire Ink4/Arf locus (apoE-/-Super-Ink4/Arf) that reproduces the normal expression and regulation of the endogenous locus. (isciii.es)
  • CONCLUSION: In contrast with previous studies demonstrating cancer resistance in Super-Ink4/Arf mice carrying an additional transgenic copy of the entire Ink4/Arf locus, our results cast doubt on the potential of Ink4/Arf activation as a strategy for the treatment of atherosclerotic disease. (isciii.es)
  • Here, we explored the role and underlying mechanisms of circRNA antisense non-coding RNA in the INK4 locus (circ_ANRIL) in oxygen-glucose deprivation and reoxygenation (OGD/R)-induced cell injury. (biomedcentral.com)
Linkage disequilibrium1
Hypothesis1
  • selection for greater longevity in males, as suggested by the patriarch hypothesis, could extend female lifespan, provided such a gene is not on the Y chromosome. (wikipedia.org)
GWAS2
  • GWAS using more complete reference sets for imputation, such as those from The 1000 Genomes project, promise to identify novel loci that have been missed by previous efforts. (sun.ac.za)
  • YAMAS ( Y et A nother M eta A nalysis S oftware), however, enables cross-GWAS conclusions prior to finished and polished imputation runs, which eventually are time-consuming. (biomedcentral.com)
SNPs2
  • We aimed to evaluate the association of chromosome 9p21 single nucleotide polymorphisms (SNPs): rs2383207, rs10757278, and rs10757274 with the risk and severity of CAD among Arab population. (edu.qa)
  • Six of these loci (HOXD8, ARL15, PIK3R1, EYA4, ASTN2, and EPB41L3) are tagged by common SNPs unique to the 1000 Genomes reference panel. (sun.ac.za)
Situated on th1
  • However, INK4a/ARF situated on the human chromosome 9p21 does appear to act as a tumour suppressor therefore extending longevity. (wikipedia.org)
Severity1
  • Conclusion: Among Arab population in Qatar, only G allele of rs2483207 SNP is significantly associated with risk of CAD and its severity. (edu.qa)
Findings and conclusions2
  • The findings and conclusions in this book are those of the author(s) and do not necessarily represent the views of the funding agency. (cdc.gov)
  • Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. (cdc.gov)
Investigate1
  • We evaluated 10 patients with ALL using 38 microsatellite markers mapped to 18 of the 24 human chromosomes to investigate the mechanisms underlying hyperdiploidy and to ascertain the parental origin of the trisomies. (ashpublications.org)
Allele2
  • The allele for slowing life history and extending longevity is not on the Y chromosome. (wikipedia.org)
  • The finding of equal allele dosage for tetrasomy 21 suggests that hyperdiploidy originates in a single aberrant mitosis, though a sequential gain of chromosomes other than 21 in consecutive cell divisions remains a possibility. (ashpublications.org)
Single1
  • Single BCL2 apoptosis regulator (BCL2) gene mutation and 9p21 copy-number deletions including S-methyl-5'-thioadenosine phosphorylase (MTAP) deficiency were identified as key characteristics for high sensitivity to satraplatin. (iiarjournals.org)
RESULTS1
  • Based on the results, doubling of a near-haploid clone and polyploidization with subsequent losses of chromosomes could be excluded. (ashpublications.org)
Data1
  • The world is divided into 'lumpers' and 'splitters' i.e. those that aggregate data to yield the widest possible conclusions and those that seek to sub-divide groups into smaller more plausible subgroups. (medscape.com)