scholarly journals Cerebellum volume in high-risk offspring from multiplex alcohol dependence families: Association with allelic variation in GABRA2 and BDNF

2011 ◽  
Vol 194 (3) ◽  
pp. 304-313 ◽  
Author(s):  
Shirley Y. Hill ◽  
Shuhui Wang ◽  
Howard Carter ◽  
Kevin Tessner ◽  
Brian Holmes ◽  
...  
2012 ◽  
Vol 7 ◽  
pp. BMI.S10815 ◽  
Author(s):  
Ludmila Kaplun ◽  
Aviva Levine Fridman ◽  
Wei Chen ◽  
Nancy K. Levin ◽  
Sidra Ahsan ◽  
...  

A substantial fraction of familial ovarian cancer cases cannot be attributed to specific genetic factors. The discovery of additional susceptibility genes will permit a more accurate assessment of hereditary cancer risk and allow for monitoring of predisposed women in order to intervene at the earliest possible stage. We focused on a population with elevated familial breast and ovarian cancer risk. In this study, we identified a SNP rs926103 whose minor allele is associated with predisposition to ovarian but not breast cancer in a Caucasian high-risk population without BRCA1/ BRCA2 mutations. We have found that the allelic variation of rs926103, which alters amino acid 52 of the encoded protein SH2D2A/TSAd, results in differences in the activity of this protein involved in multiple signal transduction pathways, including regulation of immune response, tumor vascularization, cell growth, and differentiation. Our observation provides a novel candidate genetic biomarker of elevated ovarian cancer risk in members of high-risk families without BRCA1/2 mutations, as well as a potential therapeutic target, TSAd.


2013 ◽  
Vol 43 (12) ◽  
pp. 2593-2602 ◽  
Author(s):  
C. Clements ◽  
R. Morriss ◽  
S. Jones ◽  
S. Peters ◽  
C. Roberts ◽  
...  

BackgroundBipolar disorder (BD) has been reported to be associated with high risk of suicide. We aimed to investigate the frequency and characteristics of suicide in people with BD in a national sample.MethodSuicide in BD in England from 1996 to 2009 was explored using descriptive statistics on data collected by the National Confidential Inquiry into Suicide and Homicide by People with Mental Illness (NCI). Suicide cases with a primary diagnosis of BD were compared to suicide cases with any other primary diagnosis.ResultsDuring the study period 1489 individuals with BD died by suicide, an average of 116 cases/year. Compared to other primary diagnosis suicides, those with BD were more likely to be female, more than 5 years post-diagnosis, current/recent in-patients, to have more than five in-patient admissions, and to have depressive symptoms. In BD suicides the most common co-morbid diagnoses were personality disorder and alcohol dependence. Approximately 40% were not prescribed mood stabilizers at the time of death. More than 60% of BD suicides were in contact with services the week prior to suicide but were assessed as low risk.ConclusionsGiven the high rate of suicide in BD and the low estimates of risk, it is important that health professionals can accurately identify patients most likely to experience poor outcomes. Factors such as alcohol dependence/misuse, personality disorder, depressive illness and current/recent in-patient admission could characterize a high-risk group. Future studies need to operationalize clinically useful indicators of suicide risk in BD.


2005 ◽  
Vol 135 (3) ◽  
pp. 203-216 ◽  
Author(s):  
Shirley Y. Hill ◽  
Sa Shen ◽  
Jeannette Locke Wellman ◽  
Eric Rickin ◽  
Lisa Lowers

2011 ◽  
Vol 4 ◽  
pp. S82
Author(s):  
M. Kesavan ◽  
P.K. Puttaswamy ◽  
G. Venkatasubramanian ◽  
P.K. Pal ◽  
V. Benegal

2021 ◽  
Vol 113 ◽  
pp. 106668
Author(s):  
Katherine J. Karriker-Jaffe ◽  
Karen G. Chartier ◽  
Cristina B. Bares ◽  
Kenneth S. Kendler ◽  
Thomas K. Greenfield

2003 ◽  
Vol 113 (4) ◽  
pp. 325-336 ◽  
Author(s):  
Connie J. Mulligan ◽  
Robert W. Robin ◽  
Michael V. Osier ◽  
Nyamkhishig Sambuughin ◽  
Lev G. Goldfarb ◽  
...  

2004 ◽  
Vol 95 (2) ◽  
pp. 705-706 ◽  
Author(s):  
Karl Peltzer ◽  
Phillip Seoka ◽  
Teresa-Ann Mashego

Among a community sample of 801 rural South Africans, 22.2% of men and 5.0% of women were classified as high-risk drinkers and 3.3% as with probable alcohol dependence.


2007 ◽  
Vol 12 (1) ◽  
pp. 122-132 ◽  
Author(s):  
Vivek Benegal ◽  
George Antony ◽  
Ganesan Venkatasubramanian ◽  
Peruvumba N. Jayakumar

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