Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder

2014 ◽  
Vol 17 (2) ◽  
pp. 205-211 ◽  
Author(s):  
Anto P Rajkumar ◽  
Jane H Christensen ◽  
Manuel Mattheisen ◽  
Iben Jacobsen ◽  
Iben Bache ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Candidate Genes ◽  
Genetic Association ◽  
Chromosomal Breakpoint

scholarly journals Prevalence, Patterns, and Genetic Association Analysis of Modic Vertebral Endplate Changes

2017 ◽  
Vol 11 (4) ◽  
pp. 594-600 ◽  
Author(s):  
Rishi Mugesh Kanna ◽  
Rajasekaran Shanmuganathan ◽  
Veera Ranjani Rajagopalan ◽  
Senthil Natesan ◽  
Raveendran Muthuraja ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Genetic Association ◽  
Association Analysis ◽  
Disc Degeneration ◽  
Lumbar Disc ◽  
Nucleotide Polymorphisms ◽  
Lumbar Disc Degeneration ◽  
Vertebral Endplate ◽  
Genetic Association Analysis ◽  
Study Population

<sec><title>Study Design</title><p>A prospective genetic association study.</p></sec><sec><title>Purpose</title><p>The etiology of Modic changes (MCs) is unclear. Recently, the role of genetic factors in the etiology of MCs has been evaluated. However, studies with a larger patient subset are lacking, and candidate genes involved in other disc degeneration phenotypes have not been evaluated. We studied the prevalence of MCs and genetic association of 41 candidate genes in a large Indian cohort.</p></sec><sec><title>Overview of Literature</title><p>MCs are vertebral endplate signal changes predominantly observed in the lumbar spine. A significant association between MCs and lumbar disc degeneration and nonspecific low back pain has been described, with the etiopathogenesis implicating various mechanical, infective, and biochemical factors.</p></sec><sec><title>Methods</title><p>We studied 809 patients using 1.5-T magnetic resonance imaging to determine the prevalence, patterns, distribution, and type of lumbar MCs. Genetic association analysis of 71 single nucleotide polymorphisms (SNPs) of 41 candidate genes was performed based on the presence or absence of MCs. SNPs were genotyped using the Sequenome platform, and an association test was performed using PLINK software.</p></sec><sec><title>Results</title><p>The mean age of the study population (n=809) was 36.7±10.8 years. Based on the presence of MCs, the cohort was divided into 702 controls and 107 cases (prevalence, 13%). MCs were more commonly present in the lower (149/251, 59.4%) than in the upper (102/251, 40.6%) endplates. L4–5 endplates were the most commonly affected levels (30.7%). Type 2 MCs were the most commonly observed pattern (n=206, 82%). The rs2228570 SNP of VDR (<italic>p</italic>=0.02) and rs17099008 SNP of MMP20 (<italic>p</italic>=0.03) were significantly associated with MCs.</p></sec><sec><title>Conclusions</title><p>Genetic polymorphisms of SNPs of VDR and MMP20 were significantly associated with MCs. Understanding the etiopathogenetic mechanisms of MCs is important for planning preventive and therapeutic strategies.</p></sec>

scholarly journals Genetic association of the Phosphoinositide‐3 kinase in schizophrenia and bipolar disorder and interaction with a BDNF gene polymorphism

2011 ◽  
Vol 1 (2) ◽  
pp. 119-124 ◽  
Author(s):  
Anthony Carrard ◽  
Annick Salzmann ◽  
Nader Perroud ◽  
Jérémie Gafner ◽  
Alain Malafosse ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Gene Polymorphism ◽  
Genetic Association ◽  
Bdnf Gene ◽  
Phosphoinositide 3 Kinase

scholarly journals Discovery of new candidate genes for rheumatoid arthritis through integration of genetic association data with expression pathway analysis

2017 ◽  
Vol 19 (1) ◽  
Author(s):  
Klementy Shchetynsky ◽  
Lina-Marcella Diaz-Gallo ◽  
Lasse Folkersen ◽  
Aase Haj Hensvold ◽  
Anca Irinel Catrina ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Candidate Genes ◽  
Genetic Association ◽  
Pathway Analysis ◽  
Association Data

scholarly journals A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM)

2010 ◽  
Vol 203 (4) ◽  
pp. 361.e1-361.e30 ◽  
Author(s):  
Roberto Romero ◽  
Lara A. Friel ◽  
Digna R. Velez Edwards ◽  
Juan Pedro Kusanovic ◽  
Sonia S. Hassan ◽  
...  
Keyword(s):  
Association Study ◽  
Candidate Genes ◽  
Genetic Association ◽  
Genetic Association Study ◽  
Prelabor Rupture Of Membranes

The genetic association of DUSP6 with bipolar disorder and its effect on ERK activity

2011 ◽  
Vol 26 ◽  
pp. e172
Author(s):  
Se Hyun Kim ◽  
Kyu Young Lee ◽  
Soon Young Shin ◽  
Eun Jeong Joo ◽  
Joo Youn Song ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Genetic Association ◽  
Erk Activity

scholarly journals Genetic association of cyclic AMP signaling genes with bipolar disorder

2012 ◽  
Vol 2 (10) ◽  
pp. e169-e169 ◽  
Author(s):  
M-L McDonald ◽  
C MacMullen ◽  
D J Liu ◽  
S M Leal ◽  
R L Davis
Keyword(s):  
Bipolar Disorder ◽  
Cyclic Amp ◽  
Genetic Association ◽  
Cyclic Amp Signaling

scholarly journals Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study

2009 ◽  
Vol 17 (8) ◽  
pp. 1056-1062 ◽  
Author(s):  
Erwin Reiling ◽  
Jana V van Vliet-Ostaptchouk ◽  
Esther van 't Riet ◽  
Timon W van Haeften ◽  
Pascal A Arp ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Candidate Genes ◽  
Genetic Association ◽  
Association Analysis ◽  
Type Ii Diabetes ◽  
Type Ii Diabetes Mellitus ◽  
Type Ii ◽  
Genetic Association Analysis ◽  
Damage Study
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