scholarly journals Detection of susceptibility loci on APOA5 and COLEC12 associated with metabolic syndrome using a genome-wide association study in a Taiwanese population

Oncotarget ◽  
2017 ◽  
Vol 8 (55) ◽  
pp. 93349-93359 ◽  
Author(s):  
Eugene Lin ◽  
Po-Hsiu Kuo ◽  
Yu-Li Liu ◽  
Albert C. Yang ◽  
Shih-Jen Tsai
Keyword(s):  
Metabolic Syndrome ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Susceptibility Loci ◽  
Taiwanese Population ◽  
Genome Wide ◽  
A Genome

scholarly journals A Genome-Wide Association Study in Early COPD: Identification of One Major Susceptibility Loci

2020 ◽  
Vol Volume 15 ◽  
pp. 2967-2975
Author(s):  
Ye-Jin Lee ◽  
SeungHo Choi ◽  
Sung-Youn Kwon ◽  
Yunhwan Lee ◽  
Jung Kyu Lee ◽  
...  
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Susceptibility Loci ◽  
Genome Wide ◽  
A Genome

scholarly journals Genome-Wide Association Study of Metabolic Syndrome Reveals Primary Genetic Variants at CETP Locus in Indians

Biomolecules ◽  
2019 ◽  
Vol 9 (8) ◽  
pp. 321 ◽  
Author(s):  
Gauri Prasad ◽  
Khushdeep Bandesh ◽  
Anil Giri ◽  
Yasmeen Kauser ◽  
Prakriti Chanda ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Adipose Tissue ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Rapid Urbanization ◽  
Significance Level ◽  
Genome Wide ◽  
A Genome ◽  
Replication Phase

Indians, a rapidly growing population, constitute vast genetic heterogeneity to that of Western population; however they have become a sedentary population in past decades due to rapid urbanization ensuing in the amplified prevalence of metabolic syndrome (MetS). We performed a genome-wide association study (GWAS) of MetS in 10,093 Indian individuals (6617 MetS and 3476 controls) of Indo-European origin, that belong to our previous biorepository of The Indian Diabetes Consortium (INDICO). The study was conducted in two stages—discovery phase (N = 2158) and replication phase (N = 7935). We discovered two variants within/near the CETP gene—rs1800775 and rs3816117—associated with MetS at genome-wide significance level during replication phase in Indians. Additional CETP loci rs7205804, rs1532624, rs3764261, rs247617, and rs173539 also cropped up as modest signals in Indians. Haplotype association analysis revealed GCCCAGC as the strongest haplotype within the CETP locus constituting all seven CETP signals. In combined analysis, we perceived a novel and functionally relevant sub-GWAS significant locus—rs16890462 in the vicinity of SFRP1 gene. Overlaying gene regulatory data from ENCODE database revealed that single nucleotide polymorphism (SNP) rs16890462 resides in repressive chromatin in human subcutaneous adipose tissue as characterized by the enrichment of H3K27me3 and CTCF marks (repressive gene marks) and diminished H3K36me3 marks (activation gene marks). The variant displayed active DNA methylation marks in adipose tissue, suggesting its likely regulatory activity. Further, the variant also disrupts a potential binding site of a key transcription factor, NRF2, which is known for involvement in obesity and metabolic syndrome.

scholarly journals Genome-Wide Association Study of Susceptibility Loci for T-Cell Acute Lymphoblastic Leukemia in Children

2019 ◽  
Vol 111 (12) ◽  
pp. 1350-1357 ◽  
Author(s):  
Maoxiang Qian ◽  
Xujie Zhao ◽  
Meenakshi Devidas ◽  
Wenjian Yang ◽  
Yoshihiro Gocho ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Risk Allele ◽  
Lymphoblastic Leukemia ◽  
Genome Wide Association ◽  
Luciferase Assay ◽  
Susceptibility Loci ◽  
Genome Wide ◽  
A Genome

Abstract Background Acute lymphoblastic leukemia (ALL) is the most common cancer in children and can arise in B or T lymphoid lineages. Although risk loci have been identified for B-ALL, the inherited basis of T-ALL is mostly unknown, with a particular paucity of genome-wide investigation of susceptibility variants in large patient cohorts. Methods We performed a genome-wide association study (GWAS) in 1191 children with T-ALL and 12 178 controls, with independent replication using 117 cases and 5518 controls. The associations were tested using an additive logistic regression model. Top risk variants were tested for effects on enhancer activity using luciferase assay. All statistical tests were two sided. Results A novel risk locus in the USP7 gene (rs74010351, odds ratio [OR] = 1.44, 95% confidence interval [CI] = 1.27 to 1.65, P = 4.51 × 10–8) reached genome-wide significance in the discovery cohort, with independent validation (OR = 1.51, 95% CI = 1.03 to 2.22, P = .04). The USP7 risk allele was overrepresented in individuals of African descent, thus contributing to the higher incidence of T-ALL in this race/ethnic group. Genetic changes in USP7 (germline variants or somatic mutations) were observed in 56.4% of T-ALL with TAL1 overexpression, statistically significantly higher than in any other subtypes. Functional analyses suggested this T-ALL risk allele is located in a putative cis-regulatory DNA element with negative effects on USP7 transcription. Finally, comprehensive comparison of 14 susceptibility loci in T- vs B-ALL pointed to distinctive etiology of these leukemias. Conclusions These findings indicate strong associations between inherited genetic variation and T-ALL susceptibility in children and shed new light on the molecular etiology of ALL, particularly commonalities and differences in the biology of the two major subtypes (B- vs T-ALL).

scholarly journals A Genome-Wide Association Study Identifies Potential Susceptibility Loci for Hirschsprung Disease

PLoS ONE ◽  
2014 ◽  
Vol 9 (10) ◽  
pp. e110292 ◽  
Author(s):  
Jeong-Hyun Kim ◽  
Hyun Sub Cheong ◽  
Jae Hoon Sul ◽  
Jeong-Meen Seo ◽  
Dae-Yeon Kim ◽  
...  
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
Hirschsprung Disease ◽  
Genome Wide Association ◽  
Susceptibility Loci ◽  
Genome Wide ◽  
A Genome

scholarly journals Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study

Stroke ◽  
2018 ◽  
Vol 49 (1) ◽  
pp. 11-18 ◽  
Author(s):  
Lian Duan ◽  
Ling Wei ◽  
Yanghua Tian ◽  
Zhengshan Zhang ◽  
Panpan Hu ◽  
...  
Keyword(s):  
Association Study ◽  
Moyamoya Disease ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Susceptibility Loci ◽  
Genome Wide ◽  
A Genome

A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis

2015 ◽  
Vol 136 (3) ◽  
pp. 802-806 ◽  
Author(s):  
Heidi Schaarschmidt ◽  
David Ellinghaus ◽  
Elke Rodríguez ◽  
Anja Kretschmer ◽  
Hansjörg Baurecht ◽  
...  
Keyword(s):  
Atopic Dermatitis ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Susceptibility Loci ◽  
Genome Wide ◽  
A Genome

A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese population

2012 ◽  
Vol 44 (4) ◽  
pp. 430-434 ◽  
Author(s):  
Chizu Tanikawa ◽  
Yuji Urabe ◽  
Keitaro Matsuo ◽  
Michiaki Kubo ◽  
Atsushi Takahashi ◽  
...  
Keyword(s):  
Duodenal Ulcer ◽  
Association Study ◽  
Japanese Population ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Susceptibility Loci ◽  
Genome Wide ◽  
A Genome

A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis

2011 ◽  
Vol 44 (1) ◽  
pp. 73-77 ◽  
Author(s):  
Zhiming Lin ◽  
Jin-Xin Bei ◽  
Meixin Shen ◽  
Qiuxia Li ◽  
Zetao Liao ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Han Chinese ◽  
Genome Wide Association ◽  
Susceptibility Loci ◽  
Genome Wide ◽  
A Genome
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