Susceptibility chromosome mapping. Medical search. Frequent questions

Previous fine-mapping studies of this locus have relied on imputation or investigated a small number of known, common variants. (cmich.edu)
Variants for this fine-mapping study were identified through a targeted deep sequencing (average depth of coverage greater than 4000×) of 576 individuals. (cmich.edu)
In this largest fine-mapping study to investigate a large number of rare and novel variants within 5p15.33, we identified novel lung and adenocarcinoma susceptibility loci with large effects and provided support for the role of telomere length as the potential underlying mechanism. (cmich.edu)
7. Association between genetic variants on chromosome 15q25 locus and objective measures of tobacco exposure. (nih.gov)
The book is beautifully laid out, with a series of color plates that help describe phenotype switch variants and chromosome maps. (cdc.gov)
To identify genetic variants influencing KD susceptibility, we performed a genome-wide association study (GWAS) and replication study using a total of 915 children with KD and 4553 controls in the Korean population. (nature.com)
Chromosome 15q24-25.1 variants, diet, and lung cancer susceptibility in cigarette smokers. (cdc.gov)
With her collaborators, she is using dense genotyping panels and next-generation DNA sequencing in the GELCC's set of highly-aggregated lung cancer families, their family-history-positives cases, and age-gender-smoking matched controls to search for causal variants in additional lung cancer susceptibility loci. (nih.gov)
Genome-wide association studies (GWAS) have identified common pancreatic cancer susceptibility variants at 13 chromosomal loci in individuals of European descent. (ox.ac.uk)
To identify new susceptibility variants, we performed imputation based on 1000 Genomes (1000G) Project data and association analysis using 5,107 case and 8,845 control subjects from 27 cohort and case-control studies that participated in the PanScan I-III GWAS. (ox.ac.uk)
These SNPs represent independent risk variants at previously identified pancreatic cancer risk loci on chr1q32.1 ( NR5A2), chr8q24.21 ( MYC) and chr5p15.33 ( CLPTM1L- TERT) as per analyses conditioned on previously reported susceptibility variants. (ox.ac.uk)
Our study has identified new susceptibility variants independently conferring pancreatic cancer risk that merit functional follow-up to identify target genes and explain the underlying biology. (ox.ac.uk)

Genome-wide mapping of susceptibility to coronary artery disease identifies a novel replicated locus on chromosome 17. (ox.ac.uk)
2. Fine-mapping of the 5p15.33, 6p22.1-p21.31, and 15q25.1 regions identifies functional and histology-specific lung cancer susceptibility loci in African-Americans. (nih.gov)
Pathogen genetics identifies avirulence/virulence loci associated with barley chromosome 6H resistance in the Pyrenophora teres f. teres - barley interaction. (usda.gov)
Genome-wide association study of colorectal cancer identifies six new susceptibility loci" Nature Commun . (kgi.edu)

Then they created congenic strains of mice to fine map the genes to specific regions of chromosomes, leading to the identification of two tumor suppressors (p16 and Mndal) and a growth promoting gene (mTOR) as plasma cell tumor susceptibility genes. (nih.gov)

Haplotype and cell proliferation analyses of candidate lung cancer susceptibility genes on chromosome 15q24-25.1. (cdc.gov)

The second strategy for disease gene discovery involves testing the association between genetic markers and the disease in affected families or case/control subjects, an approach that is required for the identification of complex disease genes and has been successfully used for the discovery of type 1 diabetes susceptibility genes ( 5 - 8 ). (diabetesjournals.org)
Fine mapping of your diabetes-susceptibility locus, IDDM4, on chromosome 11q13. (urat1inhibitor.com)
A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related gene. (uchicago.edu)

Chromosome 8q24 is a susceptibility locus for multiple cancers, including prostate cancer. (nih.gov)

To identify new susceptibility loci, we performed the largest genetic study of migraine to date, comprising 59,674 cases and 316,078 controls from 22 GWA studies. (ox.ac.uk)

The C57BL/6J (B6) and DBA/2J (D2) inbred strains of mice exhibit an age-related hearing loss (AHL) due to a recessive gene (Ahl) that maps to Chromosome 10. (cdc.gov)
The present study demonstrates segregation for the putative Ahl gene and mapping of such a gene to Chromosome 10, consistent with other independent mapping of Ahl for AHL in 10 strains of mice [Johnson et al. (cdc.gov)

The current canine mapping array of 173,000 markers has sufficient power to detect large-effect alleles (≥2-fold risk increase) with 100 cases and 100 controls from a single breed 6 . (nature.com)
Potter and Beverly Mock identified genetically inherited alleles of genes that control the susceptibility of BALB/c mice to plasma cell tumor development. (nih.gov)
For any chromosomal region containing a major tuberculosis-susceptibility gene, affected sibpairs inherit the same parental alleles more often than expected by chance. (sun.ac.za)
Today, significantly more data support the idea that there are susceptibility alleles for one or more unknown genes that dramatically increase certain smokers' risk of developing lung cancer. (nih.gov)
Insulin geneIDDM2 locus in Japanese kind 1 diabetes: contribution of class I alleles and influence of class I subdivision in susceptibility to variety one diabetes. (urat1inhibitor.com)
Results: Alleles tagging the deletion for both rs4112788 and rs4085613 were found to be enriched in cases compared with controls (69% vs 65%) and significantly associated with increased susceptibility to PsA (p(trend) = 0.001, OR 1.19 and p(trend) = 0.001, OR 1.18, respectively). (bath.ac.uk)

Genetic-linkage studies have implicated chromosome 8q24 as a susceptibility locus for AITD. (ox.ac.uk)

Given the genetic overlap between PsA and PsV, a study was undertaken to investigate whether single nucleotide polymorphisms (SNPs) mapping to this locus are risk factors for PsA in a UK and Irish population. (bath.ac.uk)
Methods: Three SNPs with prior evidence of association with susceptibility to PsV were genotyped in 1057 patients with PsA using Sequenom iPlex chemistry and genotype frequencies compared with data available for 5575 healthy controls. (bath.ac.uk)
This study revealed six new associations involving SNPs within DRD2 gene on chromosome 11. (biomedcentral.com)
The gene encoding thyroglobulin (Tg), which encodes a major thyroid autoantigen, maps to this region, and a recent study has reported the association of several exonic single-nucleotide polymorphisms (SNPs) with disease. (ox.ac.uk)

This SNP maps to an intronic region of the SPATA5 (spermatogenesis-associated protein 5) gene on chromosome 4. (hud.ac.uk)

Genetic, physical, and transcript map of the Ltxs1 region of mouse chromosome 11. (jax.org)

identified the NOD2 gene, mapped it to chromosome 16q12, and demonstrated that it activated nuclear factor kappa B (NF-kB), a component of the innate immune response. (cdc.gov)
Molecular linkage analyses of affected families have identified NOD2 (nucleotide-binding domain 2) as a susceptibility gene in CD. (medscape.com)
However, fewer than 10% of individuals carrying NOD2 mutations develop the disease, and genomic screening has identified linkage to multiple chromosomes, including chromosomes 3, 7, 12, and 16. (medscape.com)
Nucleotide-binding oligomerization domain-containing protein 2 (NOD2), also known as caspase recruitment domain-containing protein 15 (CARD15) or inflammatory bowel disease protein 1 (IBD1), is a protein that in humans is encoded by the NOD2 gene located on chromosome 16. (wikipedia.org)

This mapping approach has identified large-effect risk loci associated with some complex diseases, notably squamous cell carcinoma in the Standard Poodle 7 , atopic dermatitis in the German Shepherd Dog 8 and canine compulsive disorder in the Doberman Pinscher 9 . (nature.com)

Strong artificial selection for breed-defining morphological phenotypes has likely increased the prevalence of large-effect loci for these traits, and stereotyped the traits within breeds, making breed mapping particularly powerful for identifying genetic associations. (nature.com)
It is an unanswered question as to what sample sizes and study designs should be employed to improve the power of mapping efforts for complex canine phenotypes 6 , 24 . (nature.com)
Results The estimated polygenic heritability for susceptibility to bTB was 0.26, 0.37 and 0.34 for phenotypes 1, 2 and 3, respectively. (sruc.ac.uk)
Background: Chromosome 7 has shown consistent evidence of linkage with a variety of phenotypes related to alcohol dependence in the Collaborative Study on the Genetics of Alcoholism (COGA) project. (wustl.edu)

Chromosome 6p is one of the most commonly implicated regions in the genome-wide linkage scans of schizophrenia, whereas further association studies for markers in this region were inconsistent likely due to heterogeneity. (nih.gov)
reported the results of a genome-wide linkage analysis that identified a susceptibility region on chromosome 16, which they termed IBD1. (cdc.gov)
The region on Chromosome 17 provides a compelling target within which to identify novel genes underlying CAD. (ox.ac.uk)
11. Nicotinic acetylcholine receptor region on chromosome 15q25 and lung cancer risk among African Americans: a case-control study. (nih.gov)
The breast-ovary cancer-family syndrome is a dominant predisposition to cancer of the breast and ovaries which has been mapped to chromosome region 17q12-q21. (nih.gov)
The same region also harbored the strongest genome-wide association (GWA) signal for susceptibility to the periodic fever syndrome (p raw = 2.3x10 -6 , pgenome = 0.01). (vin.com)
Another susceptibility locus has been mapped on chromosome 12 in a region that contains other potential candidate cytokine genes, including the gene encoding interferon γ, the prototypical TH1 cytokine with inhibitory activities for TH2 lymphocytes. (bmj.com)
In this case, genetic mapping studies had linked a region of chromosome 6 to the disease, but sequencing DNA in the region, including the T gene, revealed no suspicious changes. (technologynetworks.com)
In a collaboration called the Genetic Epidemiology of Lung Cancer Consortium (GELCC), Dr. Bailey-Wilson and others recently narrowed down the location of a potential lung-cancer gene to a region of chromosome 6, and showed that RGS17 is a tumor suppressor gene in this region that shows association with lung cancer risk in highly aggregated lung cancer families. (nih.gov)
The most significant susceptibility region in the first whole genome screen of multiplex families was on chromosome 7q, although this linkage was evident only in UK IMGSAC families. (ncl.ac.uk)
The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type one diabetes. (urat1inhibitor.com)
Genetic susceptibility for human familial essential hypertension in a region of homology with blood pressure linkage on rat chromosome 10. (ox.ac.uk)
One of the principal blood pressure loci has been mapped to rat chromosome 10 and we have undertaken an investigation of the homologous region on human chromosome 17 in familial essential hypertension. (ox.ac.uk)

To our knowledge, this is the first genome-wide linkage analysis to map, and replicate, a CAD locus. (ox.ac.uk)

Chromosome 5p15.33 has been identified as a lung cancer susceptibility locus, however the underlying causal mechanisms were not fully elucidated. (cmich.edu)
Three new pancreatic cancer susceptibility signals identified on chromosomes 1q32.1, 5p15.33 and 8q24.21. (ox.ac.uk)

This study aimed to identify more homogeneous subgroups of families for fine mapping on regions around markers D6S296 and D6S309 (both in 6p24.3) as well as D6S274 (in 6p22.3) by means of similarity in neurocognitive functioning. (nih.gov)
Here we undertake the largest canine genome-wide association study to date, with a panel of over 4,200 dogs genotyped at 180,000 markers, to accelerate mapping efforts. (nature.com)
Such maps consist of DNA patterns, called markers, positioned on chromosomes, and help researchers search for disease-related genes. (nih.gov)
To identify whether any of these regions contained a potential tuberculosis-susceptibility gene, 22 markers from these regions were genotyped in a second set of 81 sibpairs from the same countries. (sun.ac.za)
Markers on chromosomes 15q and Xq showed suggestive evidence of linkage (lod = 2.00 and 1.77, respectively) to tuberculosis. (sun.ac.za)
Localization to chromosome band 6p21 by fluorescence in situ hybridization and linkage of a highly polymorphic simple tandem repeat DNA polymorphism to other markers on chromosome 6. (uchicago.edu)

Our results indicate that chromosome 17q could contain a susceptibility locus for human hypertension and show that comparative mapping may be a useful approach for identification of such loci in humans. (ox.ac.uk)

He was awarded a prestigious MRC New Investigator Award in 2010 and has published widely on the genetics of common disease and gene mapping methods. (imperial.ac.uk)
Molecular genetics of myeloid leukemia: identification of the commonly deleted segment of chromosome 20. (uchicago.edu)

Localization of the gene encoding a neutral amino acid transporter-like protein to human chromosome band 19q13.3 and characterization of a simple sequence repeat DNA polymorphism. (uchicago.edu)
The identification and characterization of ADAM33, a putative asthma susceptibility gene identified by positional cloning in an outbred population, should provide insights into the pathogenesis and natural history of this common disease. (nih.gov)

10. A functional polymorphism on chromosome 15q25 associated with survival of early stage non-small-cell lung cancer. (nih.gov)
Human G-protein-coupled inwardly rectifying potassium channel (GIRK1) gene (KCNJ3): localization to chromosome 2 and identification of a simple tandem repeat polymorphism. (uchicago.edu)

8. Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium. (nih.gov)
Positive replication and linkage disequilibrium mapping of the chromosome 21q22.1 malaria susceptibility locus. (kemri-wellcome.org)

4. Multiple independent loci at chromosome 15q25.1 affect smoking quantity: a meta-analysis and comparison with lung cancer and COPD. (nih.gov)

These results localize a major susceptibility locus influencing lung cancer risk to 6q23-25. (nih.gov)
6. Chromosome 15q25 (CHRNA3-CHRNB4) Variation Indirectly Impacts Lung Cancer Risk in Chinese Males. (nih.gov)
We impute sequence variation in classical HLA genes, fine-map MHC associations for lung cancer risk with major histologies and compare results between ethnicities. (liverpool.ac.uk)

Methods The present study identified genomic regions associated with susceptibility to bTB using genome-wide association (GWA), regional heritability mapping (RHM) and chromosome association approaches. (sruc.ac.uk)
Conclusion Genomic regions and candidate genes identified in the present study provide an opportunity to further understand pathways critical to cattle susceptibility to bTB and enhance genetic improvement programmes aiming at controlling and eradicating the disease. (sruc.ac.uk)
5 x 10-8) that map to 38 distinct genomic loci, including 28 loci not previously reported and the first locus identified on chromosome X. Furthermore, a subset analysis for migraine without aura (MO) identified seven of the same loci as from the full sample, whereas no loci reached genome-wide significance in the migraine with aura (MA) subset. (ox.ac.uk)

To identify susceptibility genes for familial lung cancer, we conducted a genomewide linkage analysis of 52 extended pedigrees ascertained through probands with lung cancer who had several first-degree relatives with the same disease. (nih.gov)

Thus, Crohn disease is thought to result from a complex interaction between genetic susceptibility and environmental exposures. (cdc.gov)
Mapping of a susceptibility locus for Crohn disease on chromosome 16. (cdc.gov)
Current disease-mapping efforts that are focused on single breeds miss much of the genetic variation underlying breed risk that is partitioned across breeds and that may underlie striking differences in disease prevalence across breeds. (nature.com)
Identified subpopulations, such as asthmatics, may carry multiple genetic susceptibilities to disease onset and progression and thus qualify for special protection under the CAA. (nih.gov)
Scientific advances accelerated as a result of the ground-breaking Human Genome Project enable the quantification of genetic information that underlies such human variability in susceptibility and the cellular mechanisms of disease. (nih.gov)
NFKBIZ polymorphisms and susceptibility to pneumococcal disease in European and African populations. (kemri-wellcome.org)
Optimization of highly efficient exogenous-DNA-free Cas9-ribonucleoprotein mediated gene editing in disease susceptibility loci in wheat (Triticum aestivum L.). Frontiers in Plant Science. (usda.gov)
Rocchi A, Pellegrini S, Siciliano G, Murri L: Causative and susceptibility genes for Alzheimer's disease: A review. (karger.com)
Since the canine genome sequencing project we have made a lot of progress both in terms of developing strategies and tools for canine disease gene mapping and in actually finding disease genes for both monogenic and complex diseases. (vin.com)
In recent years we have mapped genes for diseases as diverse as eye disease, epilepsy, cardiomyopathy, compulsive disorder, periodic fevers and cancer. (vin.com)
However, host genetic variation in cattle susceptibility to bTB provides an opportunity to select for resistant animals and further understand the genetic mechanisms underlying disease dynamics. (sruc.ac.uk)
Association scans such as admixture mapping have much more power, in principle, to find the weak factors that must explain most of the disease risk. (birmingham.ac.uk)
Genetic studies have identified the HLA and CTLA4 regions as susceptibility loci for the development of common autoimmune thyroid diseases (AITDs), including Graves' disease and autoimmune hypothyroidism. (ox.ac.uk)

Previous research has identified a few AA susceptibility genes, most of which are implicated in autoimmunity. (hud.ac.uk)

It has been reported that ITPKC and CASP3 were identified as KD susceptibility genes by genome-wide linkage study and association studies. (nature.com)
We have conducted a two-stage genome-wide linkage study to search for regions of the human genome containing tuberculosis-susceptibility genes. (sun.ac.za)
A linkage study of 12 IDDM susceptibility loci in the Finnish population. (urat1inhibitor.com)

All known oncogenic mutants of Ras map to a small subset of amino acids. (embl.de)

We describe here the first high-powered admixture scan, focusing on 605 African American cases and 1,043 African American controls, and report a locus on chromosome 1 that is significantly associated with multiple sclerosis. (birmingham.ac.uk)

Genetic and physical localization of a major susceptibility gene to Pyrenophora teres f. maculata in barley. (usda.gov)
Localization of human somatostatin receptor 5 gene (SSTR5) to chromosome band 16p13.3 by fluorescence in situ hybridization. (uchicago.edu)
Localization of the genes encoding two transcription factors, LMX1 and CDX3, regulating insulin gene expression to human chromosomes 1 and 13. (uchicago.edu)
Localization of the glucagon receptor gene to human chromosome band 17q25. (uchicago.edu)
Human hexokinase II: localization of the polymorphic gene to chromosome 2. (uchicago.edu)
Human somatostatin receptor genes: localization of SSTR5 to human chromosome 20p11.2. (uchicago.edu)
Human somatostatin receptor genes: localization to human chromosomes 14, 17, and 22 and identification of simple tandem repeat polymorphisms. (uchicago.edu)
Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency. (uchicago.edu)

This proposed design will enable efficient mapping of canine complex diseases, most of which have human homologues, using far fewer samples than required in human studies. (nature.com)
For many canine complex diseases, however, genetic risk is likely determined by numerous loci with small individual effect sizes, and thus larger sample sizes are required for successful association mapping. (nature.com)
Genome-wide association mapping of resistance to the foliar diseases septoria nodorum blotch and tan spot in a global winter wheat collection. (usda.gov)
Two major strategies have been used to identify human susceptibility genes for type 1 diabetes and other complex diseases. (diabetesjournals.org)

A major lung cancer susceptibility locus maps to chromosome 6q23-25. (nih.gov)
Several genome wide screens point to chromosome 5q31-33 as a major susceptibility locus for asthma and high IgE values. (bmj.com)
Chromosome association analysis indicated a major role of BTA 23 on susceptibility to bTB. (sruc.ac.uk)
These results implicate several HLA-tumor peptide interactions as the major MHC factor modulating lung cancer susceptibility. (liverpool.ac.uk)

The encoded protein may also play a role in the susceptibility of certain CD4 memory T cells to human immunodeficiency virus infection. (nih.gov)

Multipoint linkage analysis, under a simple autosomal dominant model, of all 52 families with three or more individuals affected by lung, throat, or laryngeal cancer, yielded a maximum heterogeneity LOD score (HLOD) of 2.79 at 155 cM on chromosome 6q (marker D6S2436). (nih.gov)
9. Fine mapping of chromosome 15q25.1 lung cancer susceptibility in African-Americans. (nih.gov)
The majority, but not all, of breast-ovary cancer families show linkage to this susceptibility locus, designated BRCA1. (nih.gov)

Linkage disequilibrium mapping identified two regions of association-one lying under the peak of linkage, the other some 27 cM distal. (ncl.ac.uk)

In epidemiology and regulatory toxicology, genetic information can more clearly elucidate human susceptibility essential to risk assessment, such as in support of air quality regulation. (nih.gov)

Although its etiology is largely unknown, the epidemiological data suggest that genetic factors are important in KD susceptibility. (nature.com)
Both environmental and genetic factors contribute to individual susceptibility to initiation of substance use and vulnerability to addiction. (biomedcentral.com)

Anatomy56

Organisms9

Diseases20

Chemicals and Drugs22

Analytical, Diagnostic and Therapeutic Techniques and Equipment33

Phenomena and Processes147

Disciplines and Occupations1

Technology, Industry, Agriculture1

Information Science4

Health Care4

Variants12

Identifies4

Specific regions of chromosomes1

Genes on chromosome1

Diabetes-susceptibility3

Locus for multiple1

Identify new susceptibility1

Strains of mice2

Alleles6

8q241

SNPs4

Gene on chromosome1

Mouse chromosome1

NOD24

Loci associated1

Phenotypes4

Region13

Genome-wide linkage analysis1

5p15.332

Markers6

Humans1

Genetics2

Characterization2

Polymorphism2

Replication2

Independent loci1

Lung cancer risk3

Genomic3

Familial1

Disease13

Autoimmunity1

Linkage study3

Subset1

Significantly associated1

Localization8

Diseases4

Major4

Protein1

Cancer3

Association1

Epidemiology1

Genetic factors2