scholarly journals Integrated rare variant-based risk gene prioritization in disease case-control sequencing studies

PLoS Genetics ◽  
2017 ◽  
Vol 13 (12) ◽  
pp. e1007142 ◽  
Author(s):  
Jhih-Rong Lin ◽  
Quanwei Zhang ◽  
Ying Cai ◽  
Bernice E. Morrow ◽  
Zhengdong D. Zhang
Keyword(s):  
Rare Variant ◽  
Case Control ◽  
Gene Prioritization ◽  
Risk Gene ◽  
Disease Case ◽  
Sequencing Studies

scholarly journals A Robust and Powerful Set-Valued Approach to Rare Variant Association Analyses of Secondary Traits in Case-Control Sequencing Studies

Genetics ◽  
2016 ◽  
Vol 205 (3) ◽  
pp. 1049-1062 ◽  
Author(s):  
Guolian Kang ◽  
Wenjian Bi ◽  
Hang Zhang ◽  
Stanley Pounds ◽  
Cheng Cheng ◽  
...  
Keyword(s):  
Rare Variant ◽  
Case Control ◽  
Rare Variant Association ◽  
Association Analyses ◽  
Sequencing Studies ◽  
Secondary Traits

scholarly journals Estrogen receptor alpha gene polymorphisms in patients with late onset Alzheimer’s disease

Genetika ◽  
2014 ◽  
Vol 46 (2) ◽  
pp. 437-444 ◽  
Author(s):  
Nasim Sohrabifar ◽  
Jalal Gharesouran ◽  
Mahnaz Talebi ◽  
Morteza Ghojazadeh ◽  
Ardebili Mohaddes
Keyword(s):  
Estrogen Receptor ◽  
Late Onset ◽  
Case Control ◽  
Estrogen Signaling ◽  
Control Group ◽  
Additional Risk Factor ◽  
Healthy Controls ◽  
Genotype Frequencies ◽  
Estrogen Receptor Alpha Gene ◽  
Disease Case

Evidences have been gathered from several studies suggest that a mechanism involving an estrogen-signaling pathway may contribute to modulate risk for Alzheimer?s disease. It was demonstrated that estrogen up-regulates the expression of apolipoprotein E gene, which has a role in the metabolism of b-amyloid that is related to the progress of Alzheimer?s disease. Case-control studies have found an increased frequency of PvuII and XbaI polymorphisms in affected subjects. In this study we explore the possible association of different polymorphic forms of human a-estrogen receptor (ER- a) with the risk to late onset Alzheimer?s disease in north-west Iranian population. We conducted a case-control study in a dataset of 160 LOAD patients and 163 healthy controls that have been matched in gender and age. To evaluate the PvuII and XbaI polymorphisms in Alzheimer?s disease we used PCR/RFLP method and genotype frequencies were statistically determined. The PCR products prepared from 21 AD cases and 20 healthy controls were randomly purified by ethanol precipitation and bidirectionally sequenced. The frequency of normal and mutated alleles for PvuII and XbaI locuses respectively, in the LOAD group were significantly higher than those in the control group (P<0.001, OR=0.51, 95 % CI 0.35-0.74 for XbaI locus; P<0.001, OR=0.41, 95 % CI 0.3-0.57 for PvuII locus). This result suggests that ER? XbaI and PvuII polymorphism is an additional risk factor for late-onset Alzheimer?s disease.

Circulating miRNAs in diabetic kidney disease: case–control study and in silico analyses

2018 ◽  
Vol 56 (1) ◽  
pp. 55-65 ◽  
Author(s):  
Taís S. Assmann ◽  
Mariana Recamonde-Mendoza ◽  
Aline R. Costa ◽  
Márcia Puñales ◽  
Balduíno Tschiedel ◽  
...  
Keyword(s):  
Kidney Disease ◽  
In Silico ◽  
Diabetic Kidney Disease ◽  
Case Control Study ◽  
Case Control ◽  
Circulating Mirnas ◽  
Diabetic Kidney ◽  
Disease Case ◽  
In Silico Analyses ◽  
Control Study

scholarly journals Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder

2018 ◽  
Vol 8 (1) ◽  
Author(s):  
Yoshiro Morimoto ◽  
Mihoko Shimada-Sugimoto ◽  
Takeshi Otowa ◽  
Shintaro Yoshida ◽  
Akira Kinoshita ◽  
...  
Keyword(s):  
Panic Disorder ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Rare Variant ◽  
Rare Variant Association ◽  
Association Tests ◽  
Risk Gene ◽  
Whole Exome

scholarly journals -866G/A and Ins/Del polymorphisms in the UCP2 gene and diabetic kidney disease: case-control study and meta-analysis

2020 ◽  
Vol 43 (2) ◽  
Author(s):  
Cristine Dieter ◽  
Taís Silveira Assmann ◽  
Natália Emerim Lemos ◽  
Eloísa Toscan Massignam ◽  
Bianca Marmontel de Souza ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Diabetic Kidney Disease ◽  
Case Control Study ◽  
Meta Analysis ◽  
Case Control ◽  
Diabetic Kidney ◽  
Ucp2 Gene ◽  
Disease Case ◽  
Control Study

scholarly journals Subclinical Elevation of Plasma C-Reactive Protein and Illusions/Hallucinations in Subjects with Parkinson’s Disease: Case–control Study

PLoS ONE ◽  
2014 ◽  
Vol 9 (1) ◽  
pp. e85886 ◽  
Author(s):  
Hideyuki Sawada ◽  
Tomoko Oeda ◽  
Atsushi Umemura ◽  
Satoshi Tomita ◽  
Ryutaro Hayashi ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Case Control Study ◽  
Case Control ◽  
C Reactive Protein ◽  
Reactive Protein ◽  
Disease Case ◽  
Control Study

scholarly journals Benzodiazepine use and risk of Alzheimer's disease: case-control study

BMJ ◽  
2014 ◽  
Vol 349 (sep09 2) ◽  
pp. g5205-g5205 ◽  
Author(s):  
S. Billioti de Gage ◽  
Y. Moride ◽  
T. Ducruet ◽  
T. Kurth ◽  
H. Verdoux ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Case Control Study ◽  
Case Control ◽  
Disease Case ◽  
Benzodiazepine Use ◽  
Control Study
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