PubMed · 15995377
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Kathleen Mullen. 2005. Social Security.. https://doi.org/10.1097/00000446-200507000-00010
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The association of the tumor necrosis factor alpha (TNFalpha) -G308A promoter polymorphism with schizophrenia has complemented clinical findings of increased levels of the TNFalpha cytokine in schizophrenic patients, with some support for a functional consequence of the variant. Our previous studies of genetic causes in schizophrenia supported findings of linkage to the major histocompatibility complex (MHC) region where the TNFalpha gene is located as well as association with the -G308A promoter polymorphism. While the common G-allele shows association in our sample, association with the A-allele has been reported by other groups. This suggests linkage disequilibrium (LD) rather than direct involvement in the disorder. In order to define LD of DNA variants with the disorder in this area, we analyzed 36 SNPs in a 165-kb region around this polymorphism. We detected nominally significant associations (P < 0.05) of three markers (including the -G308A promoter polymorphism) and multiple haplotypes with schizophrenia in our sample of 204 families (79 sib-pairs and 125 trios). The association is largely restricted to a 30 kb high LD region/block and should assist in the identification of a schizophrenia susceptibility gene within the block or elsewhere in the MHC.
BACKGROUND: The family history is a widely used method in psychiatry; but data on the method's objectivity, reliability and validity shows partly diverging results. METHOD: In October 2005, a Medline search was conducted that yielded 7 studies regarding objectivity/reliability and 13 studies regarding validity. Results for six main groups of psychiatric diagnoses and any mental disorder were combined qualitatively for objectivity/reliability, and quantitatively for validity. RESULTS: Objectivity was generally high (kappa in the 0.80 range). Reliability was high for any mental disorder, schizophrenia, substance abuse and depression (kappa in the 0.70 range), and low or medium for anxiety (kappa between 0.30 and 0.50). Results on validity displayed an OR=148 for the family history for schizophrenia; OR=64 for mania/bipolar disorder; and OR's between 8 and 194 for substance abuse, between 3 and 37 for depression, between 5 and 350 for personality disorders, between 2.5 and 49 for anxiety, and between 2.4 and 9 for any mental disorder. CONCLUSION: There is clear evidence that the family history provides results that are better than chance for all disorders examined. But variance among diagnostic groups and among studies is considerable.
Familial recurrence is one of the classic patterns for the clinical presentation of congenital heart disease (CHD). In recent years, many groups studied empiric recurrence risk in these heart defects, and the aim of this review was to analyse the patterns of inheritance detected in different types of CHD, including atrioventricular canal defect, tetralogy of Fallot, transposition of the great arteries, left-sided obstructions and atrial septal defect. These studies may influence clinical practise guidelines through accurate genetic counselling, but also, they may have important implications in the knowledge of genetic and pathogenetic mechanisms of CHD.