Family-Genetic Studies of Psychiatric Disorders

Weissman, Myrna M.

doi:10.1001/archpsyc.1986.01800110090012

Cited by 175 publications

(78 citation statements)

References 142 publications

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“…Selection bias due to presenting symptoms of mtDNA disease was possible and consequently women who were examined may have had more severe phenotypes than those who were not. The family history method does not detect all affected relatives, 12 and therefore, it is possible that their number was, in fact, higher than we observed. It is unlikely, however, that the unexamined women had been more severely affected than the examined women.…”

Section: Discussioncontrasting

confidence: 56%

Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G

Moilanen

Majamaa

2001

Eur J Hum Genet

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Deleterious point mutations in mitochondrial DNA (mtDNA) have been found in many human populations and always at a low frequency suggesting that they are under strong negative selection. It is assumed that this selection is caused by reduced genetic fitness of mutation carriers, but the fitness of carriers of any mtDNA mutation has not been determined. We estimated the reproductive disadvantage caused by the mitochondrial DNA mutation 3243A > G in a population-based group of female carriers (n = 32). The person-years method, Kaplan-Meier survival analysis and population statistics were used to estimate net reproduction rates of the mutation carriers and the general population. We found that women with 3243A > G reproduced at the same rate as women in the general population, suggesting that on average host-level selection against women harbouring the 3243A > G mutation is not strong. European Journal of Human Genetics (2001) 9, 59-62.

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Section: Discussioncontrasting

confidence: 56%

Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G

Moilanen

Majamaa

2001

Eur J Hum Genet

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“…Nevertheless, it will be possible to use DNA probes located within the candidate trisomic region of chromosome 5 to detect restriction fragment length polymorphisms which coinherit with schizophrenia in large-scale pedigree studies. [17][18][19] If such studies find linkage it may become possible to isolate a major gene that predisposes to schizophrenia. There is a balanced insertion of a proximal 5q segment into the long arm of chromosome 1 [der(1)].…”

Section: Discussionmentioning

confidence: 99%

Partial Trisomy Chromosome 5 Cosegregating With Schizophrenia

et al. 1988

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“…The remaining family members who participated and those who were deceased were evaluated through the family history method augmented by available medical records. 23,24 The inter-rater reliability of the psychiatric diagnoses established from structured personal interviews, as well as the sensitivity and specificity of the family history method to detect accurately the presence or absence of mood disorders in these groups, has been established. 6 All clinical assessments were performed by experienced mental health clinicians with regular supervision by an ABPN-certified faculty psychiatrist.…”

Section: Methodsmentioning

confidence: 99%

Sequence variations in CREB1 cosegregate with depressive disorders in women

et al. 2003

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Major depressive disorder (MDD) constitutes a major public health problem worldwide and affects women twice as frequently as men. Previous linkage studies have identified a 451 kb region of 2q33-35 that exhibited significant evidence of linkage to Mood Disorders among women (but not men) from families with recurrent, early-onset MDD (RE-MDD), a severe and strongly familial subtype of MDD. This 451 kb region includes CREB1, an attractive susceptibility gene for MDD and related disorders. Sequence variations in the CREB1 promoter and intron 8 have been detected that cosegregate with Mood Disorders, or their absence, in women from these families, identifying CREB1 as a sex-limited susceptibility gene for unipolar Mood Disorders. These findings implicate the cAMP signaling pathway in the pathophysiology of Mood Disorders and related conditions. Molecular Psychiatry (2003) 8, 611-618. doi:10.1038/sj.mp.4001354Keywords: genetics; CREB1; depression; sex-specific; women Major depressive disorder (MDD) is characterized by two or more weeks of depressed mood or impaired enjoyment, accompanied by disturbances of sleep and appetite, psychomotor changes, impaired concentration, inappropriate guilt, and suicidal thoughts or actions. 1 Most epidemiologic and family studies indicate that the lifetime prevalence of MDD is between 5 and 10%, with women twice as likely to be affected as men. 1-3 Suicide, a tragic consequence of MDD, has been reported to occur in 10-15% of patients who were previously hospitalized for depression, 4 a rate of death that is three orders of magnitude greater than that reported for the American population as a whole. 5 In addition to suicide, an even greater absolute increase in age-specific mortality from natural causes has been reported for individuals who suffer from MDD and their family members. 6 The significance of these public health problems has been highlighted by two recent reports from the Surgeon General. 3,5 In a study conducted by the World Health Organization, MDD ranked second only to ischemic heart disease as a source of disability worldwide. 7 Twin studies have demonstrated that genetic factors typically account for 40-70% of the risk for developing MDD, and adoption studies have confirmed the important role played by genetic risk factors in the development of MDD (for reviews, see US Department of Health and Human Services 3 ; Zubenko et al 6 ). Early age at onset of the first major depressive episode, as well as recurrence, are independent factors that increase the morbid risk of MDD among family members. In a recent study of 81 extended families (407 first-degree relatives and 835 extended relatives) ascertained through adult probands with recurrent (X2 episodes), early-onset (onset p25 years) MDD (RE-MDD), 6 over one-third of first-degree relatives and nearly one-fifth of extended relatives suffered from MDD, prevalence rates that were 7.7 and 3.8 times greater than the corresponding population rates reported by the Epidemiologic Catchment Area Study. 2 The results of a genetic se...

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Family-Genetic Studies of Psychiatric Disorders

Cited by 175 publications

References 142 publications

Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G

Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G

Partial Trisomy Chromosome 5 Cosegregating With Schizophrenia

Sequence variations in CREB1 cosegregate with depressive disorders in women

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