• Suggestive evidence was found for linkage to FEV(1)/FVC on chromosomes 1 (LOD score 1.92 at 120 cM) and 17 (LOD score 2.03 at 67 cM) and to FVC on chromosome 1 (LOD score 2.05 at 13 cM). (nih.gov)
  • Of the 1425 markers, 372 were mapped on 21 linkage groups involving 14 chromosomes with 3.0 LOD scores. (usda.gov)
  • Genetic correlations between loci on different chromosomes can be high and can generate false positive linkage. (nervenet.org)
  • We have previously identified linkage to chromosomes 14 and 16 by using ordered subsets analysis (OSA) to stratify a microsatellite genome scan by clinical measures including intraocular pressure, systolic blood pressure and body mass index. (arvojournals.org)
  • In addition, this new genome scan identifies novel linkage peaks with multipoint lod scores greater than 1.0 on chromosomes 3, 6, 13, and 22. (arvojournals.org)
  • By the genetic linkage analysis this study shows that the phenotype hyperlipidemia has possible candidate gene regions on chromosomes 2, 4, 8 and 17. (fu-berlin.de)
  • We also carried out computer simulations to assess the empirical type I error rates of these meta-analysis methods.Our analyses provided modest evidence for type 2 diabetes-predisposing variants on chromosomes 4, 10, and 14 (using LOD scores or truncated p values), or chromosome 10 and 16 (using ranks). (ox.ac.uk)
  • The first genomewide screen in NTDs demonstrated evidence of linkage to chromosomes 7 and 10. (duke.edu)
  • RESULTS: For both the microsatellite and SNP markers, linkage analysis suggested the involvement of a locus or loci proximal to the telomeric regions of chromosomes 2q and 7p, with both regions generating a LOD* score of 3.0 using a nonparametric identity by descent relative sharing method. (duke.edu)
  • CONCLUSIONS: The regions with the strongest evidence for linkage map proximal to the telomeres on these two chromosomes. (duke.edu)
  • After inclusion of 12 additional STR markers on chromosome 12p, which had been previously genotyped in this population, suggestive evidence for linkage of FEV(1) (LOD score 2.43 at 37 cM) to this region was demonstrated. (nih.gov)
  • A genetic linkage map was constructed with 1425 markers, which assembled to 21 linkage groups. (usda.gov)
  • The map contains 2,808 single-nucleotide polymorphism markers distributed on 20 linkage groups with a total length of 1,308.20 cM and an average inter-marker distance of 0.47 cM. (frontiersin.org)
  • A dense genomewide linkage search of the family was undertaken using a first generation 10K single nucleotide polymorphism chip containing 10,044 markers. (diabetesjournals.org)
  • Multipoint linkage analysis was undertaken using the HOMOZ/MAPMAKER program ( 5 ) assuming a fully penetrant autosomal recessive mode of inheritance, a disease allele frequency of 0.001, and equal allele frequencies of markers. (diabetesjournals.org)
  • A genome-wide linkage analysis did not indicate or exclude linkage to the region on chromosome 12 to which CNA1 has been previously mapped, and did not provide a single or multipoint LOD score greater than 2.0 for any of the 400 microsatellite markers. (llu.edu)
  • The linkage map itself is based on 109 microsatellite markers, which produced ten major linkage groups ranging in size from 31.1 cM to 288.5 cM. (biomedcentral.com)
  • The total size of this linkage map extends to 1211.6 Kosambi cM, and the average interval for the markers within linkage groups is 15.1 cM. (biomedcentral.com)
  • The D. magna linkage map presented here provides extensive coverage of the genome and a given density of markers that enable us to detect QTLs of moderate to strong effects. (biomedcentral.com)
  • Here we report on a D. magna linkage study using microsatellite markers. (biomedcentral.com)
  • Combined analysis of additional members of this family (11 affected individuals) and of two unrelated families (one with 2 affected individuals and the other with 3 affected individuals), with 20 markers on 7q, showed a maximum two-point LOD score of 4.05 at marker D7S500. (duke.edu)
  • Linkage to multiple 1q24-25 markers was strongly rejected for the sample as a whole (lod scores at theta = 0 ranged from -30.83 to -18.42). (elsevierpure.com)
  • Linkage of the markers in the two groups was similar, but lower LOD scores were observed in seropositives compared to seronegatives. (ox.ac.uk)
  • Variance components analysis using the program ACT, correcting for proband-wise ascertainment, also showed evidence of linkage (p ≤0.05) at markers close to or within the candidate genes IL- 1α, PTHR1, IL-6, and COLIIA1/VDR. (ox.ac.uk)
  • Using polymorphic microsatellite markers, haplotypes and linkage analysis, the diseased phenotype in MSP001 family was mapped to the LTBP2 gene. (org.pk)
  • Linkage analyses of 6 multiplex MSA families revealed several loci showing positive heterogeneity lod (HLOD) scores. (jnss.org)
  • Linkage analysis of complex traits has had limited success in identifying trait-influencing loci. (escholarship.org)
  • Loci with strong evidence of linkage was characterized by large contributions to the variance, and, in these cases, are common variants. (escholarship.org)
  • Less compelling evidence of linkage and association was observed with additional loci that may require larger family sets to confirm. (escholarship.org)
  • among them, a linkage map is a first requirement for estimating the genetic background of phenotypic traits in quantitative trait loci (QTL) studies and is also very useful in assembling the genome. (biomedcentral.com)
  • The first objective of this study was to generate a linkage map of D. magna based on 109 VNTR marker loci. (biomedcentral.com)
  • Bivariate linkage scan for reading disability and attention-deficit/hyperactivity disorder localizes pleiotropic loci. (colorado.edu)
  • We thus performed a GWS for linkage on nine Icelandic multiple-case non-BRCA1/2 families of desirable size for mapping highly penetrant loci. (lu.se)
  • The heterogeneity LOD (HLOD) at the 6q, 2p and 14q loci in all families was 3.27, 1.66 and 1.24, respectively. (lu.se)
  • Further studies will be required to confirm these findings, to refine the location of gene responsible for the observed linkage, and to screen the candidate genes targeted at these loci for mutations. (ox.ac.uk)
  • Scholars@Duke publication: High-density single nucleotide polymorphism screen in a large multiplex neural tube defect family refines linkage to loci at 7p21.1-pter and 2q33.1-q35. (duke.edu)
  • A previous genome-wide linkage scan identified loci that may be regulators of gene expression: our genome-wide joint linkage and imprinting scan using a variance-components approach found significant signals for linkage. (qxmd.com)
  • The highest LOD score for FEV(1) in the initial genomewide scan was 1.53, on chromosome 12, at 36 cM. (nih.gov)
  • The highest LOD score was 4.91 with the APOE SNP rs7412 (MAF = 0.13) with plasma apolipoprotein B (ApoB). (escholarship.org)
  • Foremost among these was the detection of very strong evidence for linkage of forearm BMD to a region on chromosome 4p (multipoint lod score = 4.3). (umaryland.edu)
  • A region of homozygosity harboring the neonatal diabetes disease gene on chromosome 10p12.1-p13 was identified (multipoint logarithm of odds score 3.25). (diabetesjournals.org)
  • Multipoint logarithm of odds (LOD) scores were calculated using parametric and nonparametric methods. (lu.se)
  • A maximum two point Logarithm of the odds (LOD) score of 4.16 was obtained with marker D14S284 at θ =0. (org.pk)
  • With a sample of 262 densely affected families, a peak logarithm of odds (LOD) score for alcohol dependence of 2.9 was observed at D7S1799. (wustl.edu)
  • These observations provide both significant evidence for an early-onset COPD-susceptibility locus on chromosome 2 and suggestive evidence for linkage of spirometry-related phenotypes to several other genomic regions. (nih.gov)
  • A new high-density genetic linkage map was constructed by using specific locus amplified fragment sequencing technology. (frontiersin.org)
  • We report a genomewide linkage analysis of a large consanguineous family segregating autosomal recessively inherited neonatal diabetes and the identification of a novel neonatal diabetes locus. (diabetesjournals.org)
  • To identify the disease locus we carried out a genomewide linkage search using an early access version of the GeneChip Mapping 10K Xba Array. (diabetesjournals.org)
  • No variations in sequence were observed in the other 2 families, and negative lod scores excluded linkage to the PTPN11 locus, showing that LEOPARD syndrome is genetically heterogeneous. (medscape.com)
  • Linkage analysis by whole genome scan in informative (FVB/NJxC3H/HeJ)F2 mice identified a novel susceptibility locus designated as C olon c ancer s usceptibility 6 (Ccs6) on proximal mouse chromosome 6. (jax.org)
  • We report here on an analysis of 150 high-risk prostate cancer families (2,176 individuals) for potential linkage to the HPC1 prostate cancer susceptibility locus at 1q24-25. (elsevierpure.com)
  • Because locus heterogeneity may lead to false rejection of linkage, data were stratified based on homogeneous subsets. (elsevierpure.com)
  • Recent genome-wide searches (GWS) have not revealed any single major locus reminiscent of BRCA1 and BRCA2, indicating that still unidentified genes may explain relatively few families each or interact in a way obscure to linkage analyses. (lu.se)
  • Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH. (ox.ac.uk)
  • Here, we present a 'first' report of genetic linkage of microspherophakia (MSP) to LTBP2 locus in a large consanguineous Pakistani family with four affected individuals in three loops. (org.pk)
  • 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)
  • Multipoint variance-component linkage analysis (using SOLAR) was performed for quantitative phenotypes, including FEV(1), FVC, and FEV(1)/FVC. (nih.gov)
  • Formal linkage analysis yielded an LOD score greater than 3. (alzforum.org)
  • However, linkage analysis between a common DNA polymorphism and the antithrombin III deficiency trait showed that the defect lies at or close to the antithrombin III structural gene. (bmj.com)
  • Purpose: To determine the genetic basis of autosomal dominant cornea plana (CNA1) through the performance of a genome-wide linkage analysis and screening of the decorin (DCN), dermatan sulfate proteoglycan 3 (DSPG3), forkhead box C1 (FOXC1), keratocan (KERA), lumican (LUM,) and paired-like homeodomain transcription factor 2 (PITX2) genes in members of an affected multigenerational family. (llu.edu)
  • DNA was obtained from affected and unaffected subjects for the performance of a genome-wide linkage analysis as well as PCR amplification and sequencing of DCN, DSPG3, FOXC1, KERA, LUM, and PITX2. (llu.edu)
  • We will sequence coding and regulatory regions of 20 genes in the region of linkage to identify sequence variation and will then genotype all common variants in the full sample of SAFOS participants for association and haplotype analysis. (umaryland.edu)
  • We explored approaches to using multiple related traits (gene expression levels) in linkage analysis. (biomedcentral.com)
  • The top 10 groups with the highest average heritability estimates were selected for subsequent linkage analysis because they were more likely to contain interesting linkage signals. (biomedcentral.com)
  • Reported in 2005, Kalidas et al performed mutation screening and linkage analysis of PTPN11 in 3 families, each of which had a history of LEOPARD syndrome for 3 generations. (medscape.com)
  • This analysis replicates previous linkages, including the regions on 1q containing the Complement Factor H gene, and on 10q containing the LOC388715 gene, both of which play a major role in the genetic susceptibility to AMD. (arvojournals.org)
  • We generated 214 F2 (intercross) clonal lines as the foundation of the linkage analysis. (biomedcentral.com)
  • We performed a genomewide analysis for linkage in a family with 10 individuals affected by chordoma. (duke.edu)
  • Multipoint analysis based on only the affected individuals gave a maximum LOD score of 4.78, with an approximate 2-LOD support interval from marker D7S512 to marker D7S684. (duke.edu)
  • A linkage map already available for this population was used for QTL analysis. (icrisat.org)
  • Multipoint linkage analysis resulted in a maximum LOD score of 5.0 at marker D7S1818. (elsevierpure.com)
  • Meta-analysis of 23 type 2 diabetes linkage studies from the International Type 2 Diabetes Linkage Analysis Consortium. (ox.ac.uk)
  • Boehnke M., International Type 2 Diabetes Linkage Analysis Consortium None. (ox.ac.uk)
  • The International Type 2 Diabetes Linkage Analysis Consortium was formed to localize type 2 diabetes predisposing variants based on 23 autosomal linkage scans.We carried out meta-analysis using the genome scan meta-analysis (GSMA) method which divides the genome into bins of approximately 30 cM, ranks the best linkage results in each bin for each sample, and then sums the ranks across samples. (ox.ac.uk)
  • Our simulation results suggested that uneven marker density across studies results in substantial variation in empirical type I error rates for all meta-analysis methods, but that 2 cM bins and scores that make more explicit use of linkage evidence, especially the truncated p values, reduce this problem.We identified regions modestly linked with type 2 diabetes by summarizing results from 23 autosomal genome scans. (ox.ac.uk)
  • In this study, we performed a genome-wide joint linkage and imprinting scan using two data sets provided by Genetic Analysis Workshop 15 (GAW15). (qxmd.com)
  • The LOD score in the region increased to 4.1 when a subset of the sample was genotyped with the Illumina Linkage III panel for the Genetic Analysis Workshop 14 (GAW14). (wustl.edu)
  • However, for expression level of TGFBR3 gene, we found a point-wise p-value of 0.03 for imprinting, but increase in the LOD score did not meet the required threshold to reliably identify imprinting as the correct mode of inheritance in genome-wide linkage scans. (qxmd.com)
  • Two-point and multipoint linkage analyses were performed using both parametric and nonparametric methods. (duke.edu)
  • Multivariate genomewide linkage scan of neurocognitive traits and ADHD symptoms: suggestive linkage to 3q13. (colorado.edu)
  • The Illumina Bead Station platform (Linkage Panel IV) was used to genotype 5253 single nucleotide polymorphisms (SNPs). (arvojournals.org)
  • To follow up on this linkage region, we systematically screened single nucleotide polymorphisms (SNPs) across a 2 LOD support interval surrounding the alcohol dependence peak. (wustl.edu)
  • A total of 92,157 variants in African Americans (34%) and 81,559 (31%) in Hispanics were polymorphic and tested using two-point linkage and association analyses with 37 cardiometabolic phenotypes. (escholarship.org)
  • Confirmation of linkage and estimation of the proportion of families who are linked in large independent datasets is essential to understanding the significance of cancer susceptibility genes. (elsevierpure.com)
  • Our linkage scan results suggest that imprinted genes are unlikely to be involved in susceptibility to rheumatoid arthritis. (qxmd.com)
  • We also developed an algorithm to search for clusters of linkage peaks from multiple traits in the same group and a heuristic method for calculating p -value evaluating the linkage peak clustering. (biomedcentral.com)
  • We tested whether coding variants are the basis for linkage peaks of complex traits in 42 African-American (n = 596) and 90 Hispanic (n = 1,414) families in the Insulin Resistance Atherosclerosis Family Study (IRASFS) using Illumina HumanExome Beadchips. (escholarship.org)
  • A previous autosome-wide screen identified a nonparametric linkage (NPL) log-likelihood ratio (LOD) score of 2.7 on chromosome 6q26 for the sum of nine withdrawal symptoms. (sri.com)
  • The lod score for linkage within the larger Scottish kindred was 3.1 (theta = 0). (bmj.com)
  • 65 years, the lod scores at theta = 0 remained less than -4.0. (elsevierpure.com)
  • The strongest evidence of linkage (LOD = 4.29) was with rs5882 (MAF = 0.46) in CETP with HDL. (escholarship.org)
  • Using the program MapMaker/Sibs there was suggestive evidence of linkage between BMD and PTHR1 (maximum LOD score obtained [MLS] 2.7-3.5). (ox.ac.uk)
  • An increased risk of relapse, suggestive linkage at chr6q26, and nominally significant association with multiple OPRM1 SNPs were found with Rasch-modeled nicotine withdrawal sensitivity scores in a multiplex smoking pedigree sample. (sri.com)
  • Methods: The SNPs were selected from the HapMap Phase I CEPH data to tag linkage disequilibrium bins across the region. (wustl.edu)
  • Because there is no clinical trait or covariate information in Problem 1, we defined a group of transcripts as those sharing some common biological functions, and explored whether we can gain more linkage information by combining multiple expression traits in a group. (biomedcentral.com)
  • In linkage studies in which multiple related traits (such as obesity, diabetes, and hypertension) are analyzed, it is often of interest to see if several of the traits have linkage signals around a common region, often done by simply visualizing the LOD scores along a chromosome. (biomedcentral.com)
  • In linkage analyses of the traits virus extinction, infection rate, and the symptom red edges, a highly associated major QTL was identified on chromosome 10. (biomedcentral.com)
  • In the initial genomewide scan, significant evidence for linkage to FEV(1)/FVC was demonstrated on chromosome 2q (LOD score 4.12 at 222 cM). (nih.gov)
  • The significant linkage of FEV(1)/FVC to chromosome 2q could reflect one or more genes influencing the development of airflow obstruction or dysanapsis. (nih.gov)
  • A maximal NPL LOD score of 3.15, suggestive of significant linkage, was identified at chr6q26 for nicotine withdrawal sensitivity. (sri.com)
  • Further investigation of the genomic screen data identified a single large multiplex family, pedigree 8776, as primarily driving the linkage results on chromosome 7. (duke.edu)
  • A third advantage of RI strains is that genotypes generated by different groups using a variety of methods can be pooled to generate high-density linkage maps. (nervenet.org)
  • These linkage regions are being further examined using both family based and case/control association analyses. (arvojournals.org)
  • Our results showed that PCA generally yielded stronger evidence for linkage, through the LDA component had the highest heritability. (biomedcentral.com)
  • Thus, evidence of strong linkage in this genome wide survey of primarily coding variants was uncommon. (escholarship.org)
  • One family contributed suggestive LOD scores (LOD 2.63 to 3.03, dominant model) at all these regions, without consistent evidence of a tumour suppressor gene. (lu.se)
  • Ein maximaler LOD-Score von 4,20 wurde für die Marker D7S471 und D7S501 erzielt. (uni-wuerzburg.de)
  • The maximum two-point LOD score based on only the affected individuals was 2.21, at recombination fraction 0, at marker D7S2195 on chromosome 7q. (duke.edu)
  • When gender was used as a covariate, a LOD score of 5.4 was computed with the peak marker being positioned at rs13478727, 43.8 Mbp. (jax.org)
  • The QTL on chromosome 10 could be observed in the connected linkage analyses and in the single population analyses. (biomedcentral.com)
  • A five-generation kindred (19 affected, two obligate carriers and 20 unaffected) from Oklahoma USA, in which familial benign (hypocalciuric) hypercalcaemia (FBH) was associated with a developmental elevation in serum parathyroid hormone (PTH) levels, has been investigated for linkage to the candidate chromosomal regions 3q21-q24 and 19p13.3, 11q13, and 11p15, to which the genes for FBH, multiple endocrine neoplasia type 1 (MEN1) and PTH have been mapped respectively. (ox.ac.uk)
  • Clear guidelines for the interpretation of linkage results are needed to avoid a flood of false positive claims. (nih.gov)
  • In Hispanic families, 104 LOD scores were greater than 3. (escholarship.org)
  • Application of OSA to the new linkage data significantly increases the lod score on chromsome 14 from 1.55 to 4.1 in a clinically distinct subset of 61 families (p=0.017). (arvojournals.org)
  • This dataset includes 640 affected men with an average age at prostate cancer diagnosis of 66.8 years (range, 39-94), representing the largest collection of high-risk families analyzed for linkage in this region to date. (elsevierpure.com)
  • Linkage and comparative mapping studies indicate that the transferred chromosome segment contains a number of candidate genes for hypertension, including genes encoding a brain dopamine receptor and a renal epithelial potassium channel. (jci.org)
  • Sixty-four microsatellites lying close to or within these genes were investigated for linkage with BMD. (ox.ac.uk)
  • Joint linkage and imprinting analyses of GAW15 rheumatoid arthritis and gene expression data. (qxmd.com)
  • It also enables comparative studies between D. magna and D. pulex , for which a linkage map already exists. (biomedcentral.com)
  • We used both model-based and model-free methods of joint linkage and imprinting analyses. (qxmd.com)
  • In African Americans 77 LOD scores greater than 3 were observed. (escholarship.org)
  • Positional candidates in this region of chromosome 6 were analyzed with respect to a possible role in carcinogenesis and a role in inflammatory response using a new epigenetic gene scoring tool (Myeloid Inflammation Score). (jax.org)
  • Linkage to chromosome 9 replicates findings from two other groups. (arvojournals.org)