Allelic expression imbalance refined genome-wide association signals in osteoarthritis

2021 ◽  
Vol 29 ◽  
pp. S313
Author(s):  
R.C. de Almeida ◽  
W. Den Hollander ◽  
R.R. Nelissen ◽  
L. Mei ◽  
I. Meulenbelt
Keyword(s):  
Genome Wide Association ◽  
Allelic Expression ◽  
Allelic Expression Imbalance ◽  
Genome Wide

scholarly journals Type 2 Diabetes (T2D) Associated Polymorphisms Regulate Expression of Adjacent Transcripts in Transformed Lymphocytes, Adipose, and Muscle from Caucasian and African-American Subjects

2011 ◽  
Vol 96 (2) ◽  
pp. E394-E403 ◽  
Author(s):  
Neeraj K. Sharma ◽  
Kurt A. Langberg ◽  
Ashis K. Mondal ◽  
Steven C. Elbein ◽  
Swapan K. Das
Keyword(s):  
Genome Wide Association ◽  
Small Subset ◽  
Nucleotide Polymorphisms ◽  
Healthy Individuals ◽  
Allelic Expression Imbalance ◽  
Single Nucleotide ◽  
Metabolic Traits ◽  
Genome Wide

abstract Context: Genome-wide association scans (GWAS) have identified novel single nucleotide polymorphisms (SNPs) that increase T2D susceptibility and indicated the role of nearby genes in T2D pathogenesis. Objective: We hypothesized that T2D-associated SNPs act as cis-regulators of nearby genes in human tissues and that expression of these transcripts may correlate with metabolic traits, including insulin sensitivity (SI). Design, Settings, and Patients: Association of SNPs with the expression of their nearest transcripts was tested in adipose and muscle from 168 healthy individuals who spanned a broad range of SI and body mass index (BMI) and in transformed lymphocytes (TLs). We tested correlations between the expression of these transcripts in adipose and muscle with metabolic traits. Utilizing allelic expression imbalance (AEI) analysis we examined the presence of other cis-regulators for those transcripts in TLs. Results: SNP rs9472138 was significantly (P = 0.037) associated with the expression of VEGFA in TLs while rs6698181 was detected as a cis-regulator for the PKN2 in muscle (P = 0.00027) and adipose (P = 0.018). Significant association was also observed for rs17036101 (P = 0.001) with expression of SYN2 in adipose of Caucasians. Among 19 GWAS-implicated transcripts, expression of VEGFA in adipose was correlated with BMI (r = −0.305) and SI (r = 0.230). Although only a minority of the T2D-associated SNPs were validated as cis-eQTLs for nearby transcripts, AEI analysis indicated presence of other cis-regulatory polymorphisms in 54% of these transcripts. Conclusions: Our study suggests that a small subset of GWAS-identified SNPs may increase T2D susceptibility by modulating expression of nearby transcripts in adipose or muscle.

scholarly journals Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing

2009 ◽  
Vol 19 (1) ◽  
pp. 122-134 ◽  
Author(s):  
Graham A. Heap ◽  
Jennie H.M. Yang ◽  
Kate Downes ◽  
Barry C. Healy ◽  
Karen A. Hunt ◽  
...  
Keyword(s):  
High Throughput ◽  
Allelic Expression ◽  
Primary Cells ◽  
Allelic Expression Imbalance ◽  
Genome Wide Analysis ◽  
Genome Wide ◽  
Human Primary Cells

Genome wide association study on memory in schizophrenia patients and unaffected probands

2009 ◽  
Vol 42 (05) ◽  
Author(s):  
B Konte ◽  
I Giegling ◽  
AM Hartmann ◽  
H Konnerth ◽  
P Muglia ◽  
...  
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Genome Wide

Genome-wide association study meta-analysis identifies the SOAT1/AXDND1 locus to be associated with hip and forearm fracture risk

2013 ◽  
Author(s):  
Ulrika Pettersson-Kymmer ◽  
Andrea Lacroix ◽  
Joel Eriksson ◽  
Ulrica Bergstrom ◽  
Beatrice Melin ◽  
...  
Keyword(s):  
Fracture Risk ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Meta Analysis ◽  
Forearm Fracture ◽  
Genome Wide Association ◽  
Genome Wide

1701-P: Genome-Wide Association Study Identifies Novel Potential Associations with Birth Weight in a Southwestern American Indian Population

Diabetes ◽  
2019 ◽  
Vol 68 (Supplement 1) ◽  
pp. 1701-P
Author(s):  
LAUREN E. WEDEKIND ◽  
WEN-CHI HSUEH ◽  
SAYUKO KOBES ◽  
MUIDEEN T. OLAIYA ◽  
WILLIAM C. KNOWLER ◽  
...  
Keyword(s):  
Birth Weight ◽  
American Indian ◽  
Association Study ◽  
Indian Population ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
American Indian Population ◽  
Genome Wide

The First Genome-Wide Association Study (GWAS) for Type 2 Diabetes in Youth from the Progress in Diabetes Genetics in Youth (ProDiGY) Collaboration

Diabetes ◽  
2018 ◽  
Vol 67 (Supplement 1) ◽  
pp. 1703-P ◽  
Author(s):  
SHYLAJA SRINIVASAN ◽  
JENNIFER TODD ◽  
LING CHEN ◽  
JASMIN DIVERS ◽  
SAM GIDDING ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Genome Wide ◽  
Diabetes Genetics ◽  
Diabetes In Youth
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