scholarly journals Parametric Linkage Analysis Identifies Five Novel Genome-Wide Significant Loci for Familial Lung Cancer

2016 ◽  
Vol 82 (1-2) ◽  
pp. 64-74 ◽  
Author(s):  
Anthony M. Musolf ◽  
Claire L. Simpson ◽  
Mariza de Andrade ◽  
Diptasri Mandal ◽  
Colette Gaba ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Linkage Analysis ◽  
Parametric Linkage Analysis ◽  
Genome Wide

scholarly journals Pedigree-Based Gene Mapping Supports Previous Loci and Reveals Novel Suggestive Loci in Specific Language Impairment

2020 ◽  
Vol 63 (12) ◽  
pp. 4046-4061
Author(s):  
Erin M. Andres ◽  
Kathleen Kelsey Earnest ◽  
Shelley D. Smith ◽  
Mabel L. Rice ◽  
Muhammad Hashim Raza
Keyword(s):  
Linkage Analysis ◽  
Language Impairment ◽  
Specific Language Impairment ◽  
Suggestive Linkage ◽  
Lod Score ◽  
Specific Language ◽  
Parametric Linkage Analysis ◽  
Genome Wide ◽  
Age Appropriate ◽  
Language Measure

Purpose Specific language impairment (SLI) is characterized by a delay in language acquisition despite a lack of other developmental delays or hearing loss. Genetics of SLI is poorly understood. The purpose of this study is to identify SLI genetic loci through family-based linkage mapping. Method We performed genome-wide parametric linkage analysis in six families segregating with SLI. An age-appropriate standardized omnibus language measure was used to categorically define the SLI phenotype. Results A suggestive linkage region replicated a previous region of interest with the highest logarithm of odds (LOD) score of 2.40 at 14q11.2-q13.3 in Family 489. A paternal parent-of-origin effect associated with SLI and language phenotypes on a nonsynonymous single nucleotide polymorphism (SNP) in NOP9 (14q12) was reported previously. Linkage analysis identified a new SLI locus at 15q24.3-25.3 with the highest parametric LOD score of 3.06 in Family 315 under a recessive mode of inheritance. Suggestive evidence of linkage was also revealed at 4q31.23-q35.2 in Family 300, with the highest LOD score of 2.41. Genetic linkage was not identified in the other three families included in parametric linkage analysis. Conclusions These results are the first to report genome-wide suggestive linkage with a total language standard score on an age-appropriate omnibus language measure across a wide age range. Our findings confirm previous reports of a language-associated locus on chromosome 14q, report new SLI loci, and validate the pedigree-based parametric linkage analysis approach to mapping genes for SLI. Supplemental Material https://doi.org/10.23641/asha.13203218

scholarly journals Genome-Wide Multipoint Parametric Linkage Analysis of Pulse Pressure in Large, Extended Utah Pedigrees

Hypertension ◽  
2003 ◽  
Vol 42 (3) ◽  
pp. 322-328 ◽  
Author(s):  
Nicola J. Camp ◽  
Paul N. Hopkins ◽  
Sandra J. Hasstedt ◽  
Hilary Coon ◽  
Alka Malhotra ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Pulse Pressure ◽  
Parametric Linkage Analysis ◽  
Genome Wide

Linkage Analysis and Genome-Wide Association Study of QTLs Controlling Stem-Breaking-Strength-Related Traits in Wheat

2017 ◽  
Vol 43 (4) ◽  
pp. 483 ◽  
Author(s):  
Kai LIU ◽  
Zhi-Ying DENG ◽  
Ying ZHANG ◽  
Fang-Fang WANG ◽  
Tong-Tong LIU ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Breaking Strength ◽  
Genome Wide Association ◽  
Genome Wide

scholarly journals Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Athea Vichas ◽  
Amanda K. Riley ◽  
Naomi T. Nkinsi ◽  
Shriya Kamlapurkar ◽  
Phoebe C. R. Parrish ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Spindle Assembly Checkpoint ◽  
Spindle Assembly ◽  
Genetic Data ◽  
Multiple Models ◽  
Ras Pathway ◽  
Functional Interactions ◽  
Genome Wide ◽  
A Genome ◽  
Mutant Cells

AbstractCRISPR-based cancer dependency maps are accelerating advances in cancer precision medicine, but adequate functional maps are limited to the most common oncogenes. To identify opportunities for therapeutic intervention in other rarer subsets of cancer, we investigate the oncogene-specific dependencies conferred by the lung cancer oncogene, RIT1. Here, genome-wide CRISPR screening in KRAS, EGFR, and RIT1-mutant isogenic lung cancer cells identifies shared and unique vulnerabilities of each oncogene. Combining this genetic data with small-molecule sensitivity profiling, we identify a unique vulnerability of RIT1-mutant cells to loss of spindle assembly checkpoint regulators. Oncogenic RIT1M90I weakens the spindle assembly checkpoint and perturbs mitotic timing, resulting in sensitivity to Aurora A inhibition. In addition, we observe synergy between mutant RIT1 and activation of YAP1 in multiple models and frequent nuclear overexpression of YAP1 in human primary RIT1-mutant lung tumors. These results provide a genome-wide atlas of oncogenic RIT1 functional interactions and identify components of the RAS pathway, spindle assembly checkpoint, and Hippo/YAP1 network as candidate therapeutic targets in RIT1-mutant lung cancer.

scholarly journals O3-13-02: GENOME-WIDE LINKAGE ANALYSIS OF AFRICAN-AMERICAN ALZHEIMER DISEASE FAMILIES

2019 ◽  
Vol 15 ◽  
pp. P919-P920
Author(s):  
James Jaworski ◽  
Brian W. Kunkle ◽  
Farid Rajabli ◽  
Larry D. Adams ◽  
Takiyah D. Starks ◽  
...  
Keyword(s):  
African American ◽  
Alzheimer Disease ◽  
Linkage Analysis ◽  
Genome Wide

A genome wide quantitative trait linkage analysis for serum lipids in type 2 diabetes in an African population

2005 ◽  
Vol 181 (2) ◽  
pp. 389-397 ◽  
Author(s):  
Adebowale A. Adeyemo ◽  
Thomas Johnson ◽  
Joseph Acheampong ◽  
Johnnie Oli ◽  
Godfrey Okafor ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Linkage Analysis ◽  
Quantitative Trait ◽  
Serum Lipids ◽  
African Population ◽  
Quantitative Trait Linkage Analysis ◽  
Genome Wide ◽  
A Genome ◽  
Quantitative Trait Linkage

scholarly journals Genome-wide linkage analysis for uric acid in families enriched for hypertension

2009 ◽  
Vol 24 (8) ◽  
pp. 2414-2420 ◽  
Author(s):  
A. D. Rule ◽  
B. L. Fridley ◽  
S. C. Hunt ◽  
Y. Asmann ◽  
E. Boerwinkle ◽  
...  
Keyword(s):  
Uric Acid ◽  
Linkage Analysis ◽  
Genome Wide

scholarly journals Genome-Wide Linkage Analysis Assessing Parent-of-Origin Effects in the Inheritance of Type 2 Diabetes and BMI in Pima Indians

Diabetes ◽  
2001 ◽  
Vol 50 (12) ◽  
pp. 2850-2857 ◽  
Author(s):  
R. S. Lindsay ◽  
S. Kobes ◽  
W. C. Knowler ◽  
P. H. Bennett ◽  
R. L. Hanson
Keyword(s):  
Type 2 Diabetes ◽  
Linkage Analysis ◽  
Pima Indians ◽  
Genome Wide ◽  
Parent Of Origin ◽  
Origin Effects
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