Family-based association analysis to finemap bipolar linkage peak on chromosome 8q24 using 2,500 genotyped SNPs and 15,000 imputed SNPs

Zhang P, Xiang N, Chen Y, Śliwerska E, McInnis MG, Burmeister M, Zöllner S. Family-based association analysis to finemap bipolar linkage peak on chromosome 8q24 using 2,500 genotyped SNPs and 15,000 imputed SNPs. Bipolar Disord 2010: 12: 786–792. © 2010 The Authors. Journal compilation © 2010 John Wiley & Sons A/S.Multiple linkage and association studies have suggested chromosome 8q24 as a promising candidate region for bipolar disorder (BP). We performed a detailed association analysis assessing the contribution of common genetic variation in this region to the risk of BP.We analyzed 2,756 single nucleotide polymorphism (SNP) markers in the chromosome 8q24 region of 3,512 individuals from 737 families. In addition, we extended genotype imputation methods to family-based data and imputed 22,725 HapMap SNPs in the same region on 8q24. We applied a family-based method to test 15,552 high-quality genotyped or imputed SNPs for association with BP.Our association analysis identified the most significant marker (p = 4.80 × 10 −5 ), near the gene encoding potassium voltage-gated channel KQT-like protein ( KCNQ3 ). Other marginally significant markers were located near adenylate cyclase 8 ( ADCY8 ) and ST3 beta-galactoside alpha-2,3-sialyltransferase 1 ( ST3GAL1 ).We developed an approach to apply MACH imputation to family-based data, which can increase the power to detect association signals. Our association results showed suggestive evidence of association of BP with loci near KCNQ3 , ADCY8 , and ST3GAL1 . Consistent with genes identified by genome-wide association studies for BP, our results suggest the involvement of ion channelopathy in BP pathogenesis. However, common variants are insufficient to explain linkage findings in 8q24; other genetic variation should be explored.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/79302/1/j.1399-5618.2010.00883.x.pd

Psychometric Properties of an Assessment for Mental Health Recovery Programs

The concept of recovery can be operationalized from either the point of view of the consumer, or from the perspective of the agency providing services. The Milestones of Recovery Scale (MORS) was created to capture aspects of recovery from the agency perspective. Evidence establishing the psychometric properties of the MORS was obtained in three efforts: Inter-rater reliability using staff at The Village, a multi-service organization serving the homeless mentally ill in Long Beach, California; inter-rater reliability was also obtained from Vinfen Corporation, a large provider of housing services to mentally ill persons in Boston, Massachusetts. A test–retest reliability study was conducted using staff rating of clients at The Village, and evidence for validity was obtained using the Level of Care Utilization System (LOCUS) as a validity measure. The intra-class correlation coefficient for the inter-rater reliability study was r = .85 (CI .81, .89) for The Village and r = .86 (CI .80, .90) for Vinfen Corporation; test–retest reliability was r = .85 (CI .81, .87); and validity coefficients for the LOCUS were at or above r = .49 for all subscales except one. There is sufficient evidence for the reliability and validity of the MORS

Making Friends in the Rainforest: Negrito Adaptation to Risk and Uncertainty

The so-called negritos adapt not just to a tropical forest environment but also to an environment characterized by perturbations and fluctuations. As with other hunter-gatherers in the region and, indeed, throughout the world, they use both social and ecological methods to enhance their chances of survival in this changing environment: socially, they have developed networks of trading and marriage partners; ecologically, they maintain patches of key resources that are available for future harvesting. As evidenced in the case of the Batek (Orang Asli), patterns of forest structure and composition are sometimes direct outcomes of intentional resource concentration and enrichment strategies. While little of the above is controversial anthropologically, what has drawn some debate is the nature of the relationship with partner societies. Conventional wisdom posits relations of inequality between foragers and others : foragers and farmers are often construed as hierarchical dyads where foragers supply products or labor to farmers in exchange for agricultural harvests and other trade goods. This kind of adaptation appears to be one of divergent specialization. However, there are cases, such as in the relationship between Batek and Semaq Beri, where both societies follow a roughly similar mode of adaptation, and specialization has not materialized. In sum, while not denying that hierarchy and inequality exist, I suggest that they have to be contextualized within a larger strand of relationships that includes both hierarchy and egality. Further, such relationships are part of the general portfolio of risk reduction strategies, following which access to widely scattered environmental resources, and passage from one location to another, is enhanced not by competing with and displacing neighbors but by maintaining a flexible regime of friendly exchange partners

Global Law as Intercontextuality and as Interlegality

Since the 1990s the effects of globalization on law and legal developments has been a central topic of scholarly debate. To date, the debate is however marked by three substantial deficiencies which this chapter seeks to remedy through a reconceptualization of global law as a law of inter-contextuality expressed through inter-legality and materialized through a particular body of legal norms which can be characterized as connectivity norms. The first deficiency is a historical and empirical one. Both critics as well as advocates of ‘non-state law’ share the assumption that ‘law beyond the state’ and related legal norms have gained in centrality when compared with previous historical times. While global law, including both public and private global governance law as well as regional occurrences such as EU law, has undergone profound transformations since the structural transformations which followed the de-colonialization processes of the mid-twentieth century, we do not have more global law relatively to other types of law today than in previous historical times. The second deficiency is a methodological one. The vast majority of scholarship on global law is either of an analytical nature, drawing on insights from philosophy, or empirically observing the existence of global law and the degree of compliance with global legal norms at a given moment in time. While both approaches bring something to the table they remain static approaches incapable of explaining and evaluating the transformation of global law over time. The third deficiency is a conceptual-theoretical one. In most instances, global law is understood as a unitary law producing singular legal norms with a planetary reach, or, alternatively, a radical pluralist perspective is adopted dismissing the existence of singular global norms. Both of these approaches however misapprehend the structural characteristics, function and societal effects of global law. Instead a third positon between unitary and radical pluralist perspectives can be adopted through an understanding of global law and its related legal norms as a de-centred kind of inter-contextual law characterised by inter-legality

Associations of specific phobia and its subtypes with physical diseases: an adult community study.

Specific phobia is the most prevalent anxiety disorder in the community and is associated with substantial impairment. Comorbidity with physical diseases is assumed and has important implications for etiology, treatment, or prevention of the comorbid conditions. However, due to methodological issues data are limited and subtypes of specific phobia have not been investigated yet. We examined the association of specific phobia and its subtypes with physical diseases in a representative community sample with physician-diagnosed physical diseases and diagnostic criteria of specific phobia. Data of the German Mental Health Survey from 4181 subjects aged 18-65 years were used. Specific phobia was diagnosed using M-CIDI/DIA-X interview; physical diseases were assessed through a self-report questionnaire and a medical interview. Logistic regression analyses adjusted for sex were calculated. Specific phobia was associated with cardiac diseases, gastrointestinal diseases, respiratory diseases, arthritic conditions, migraine, and thyroid diseases (odds ratios between 1.49 and 2.53). Among the subtypes, different patterns of associations with physical diseases were established. The findings were partially replicated in the Swiss PsyCoLaus Study. Our analyses show that subjects with specific phobia have an increased probability for specific physical diseases. From these analyses etiological mechanisms of specific phobia and physical disease can be deduced. As subtypes differed in their patterns of associations with physical diseases, different etiological mechanisms may play a role. The findings are highly relevant for public health in terms of prevention and therapy of the comorbid conditions

The validation of a new measure quantifying the social quality of life of ethnically diverse older women: two cross-sectional studies

<p>Abstract</p> <p>Background</p> <p>To our knowledge, the available psychometric literature does not include an instrument for the quantification of social quality of life among older women from diverse ethnic backgrounds. To address the need for a tool of this kind, we conducted two studies to assess the initial reliability and validity of a new instrument. The latter was created specifically to quantify the contribution of a) social networks and resources (e.g., family, friends, and community) as well as b) one's perceived power and respect within family and community to subjective well-being in non-clinical, ethnically diverse populations of older women.</p> <p>Methods</p> <p>In Study 1, we recruited a cross-sectional sample of primarily non-European-American older women (<it>N </it>= 220) at a variety of community locations. Participants were administered the following: a short screener for dementia; a demographic list; an initial pool of 50 items from which the final items of the new Older Women's Social Quality of Life Inventory (OWSQLI) were to be chosen (based on a statistical criterion to apply to the factor analysis findings); the Single Item Measure of Social Support (SIMSS); and the Medical Outcome Study 36-item Short-Form Health Survey (MOS SF-36). Study 2 was conducted on a second independent sample of ethnically diverse older women. The same recruitment strategies, procedures, and instruments as those of Study 1 were utilized in Study 2, whose sample was comprised of 241 older women with mostly non-European-American ethnic status.</p> <p>Results</p> <p>In Study 1, exploratory factor analysis of the OWSQLI obtained robust findings: the total variance explained by one single factor with the final selection of 22 items was over 44%. The OWSQLI demonstrated strong internal consistency (<it>α </it>= .92, <it>p </it>< .001), adequate criterion validity with the SIMSS (<it>r </it>= .33; <it>p </it>< .01), and (as expected) moderate concurrent validity with the MOS SF-36 for both physical (<it>r </it>= .21; <it>p </it>< .01) and mental (<it>r </it>= .26; <it>p </it>< .01) quality of life. In order to confirm the validity of the 22-item OWSQLI scale that emerged from Study 1 analyses, we replicated those analyses in Study 2, although using confirmatory factor analysis. The total variance accounted for by one factor was about 42%, again quite high and indicative of a strong single-factor solution. Study 2 data analyses yielded the same strong reliability findings (i.e., <it>α </it>= .92, <it>p </it>< .001). The 22-item OWSQLI was correlated with the SIMSS (<it>r </it>= .27, <it>p </it>< .001) in the expected direction. Finally, correlations with the MOS SF- 36 demonstrated moderate concurrent validity for physical (<it>r </it>= .14; <it>p </it>< .01) and mental (<it>r </it>= .18; <it>p </it>< .01) quality of life, as expected.</p> <p>Conclusions</p> <p>The findings of these two studies highlight the potential for our new tool to provide a valid measure of older women's social quality of life, yet they require duplication in longitudinal research. Interested clinicians should consider using the OWSQLI in their assessment battery to identify older women's areas of lower versus higher social quality of life, and should establish the maximization of patients' social quality of life as an important therapeutic goal, as this variable is significantly related to both physical and mental health.</p

Judging Inter-Legality

Peer reviewe

Development of a universal psycho-educational intervention to prevent common postpartum mental disorders in primiparous women: a multiple method approach

<p>Abstract</p> <p>Background</p> <p>Prevention of postnatal mental disorders in women is an important component of comprehensive health service delivery because of the substantial potential benefits for population health. However, diverse approaches to prevention of postnatal depression have had limited success, possibly because anxiety and adjustment disorders are also problematic, mental health problems are multifactorially determined, and because relationships amongst psychosocial risk factors are complex and difficult to modify. The aim of this paper is to describe the development of a novel psycho-educational intervention to prevent postnatal mental disorders in mothers of firstborn infants.</p> <p>Methods</p> <p>Data from a variety of sources were synthesised: a literature review summarised epidemiological evidence about neglected modifiable risk factors; clinical research evidence identified successful psychosocial treatments for postnatal mental health problems; consultations with clinicians, health professionals, policy makers and consumers informed the proposed program and psychological and health promotion theories underpinned the proposed mechanisms of effect. The intervention was pilot-tested with small groups of mothers and fathers and their first newborn infants.</p> <p>Results</p> <p><it>What Were We Thinking! </it>is a psycho-educational intervention, designed for universal implementation, that addresses heightened learning needs of parents of first newborns. It re-conceptualises mental health problems in mothers of infants as reflecting unmet needs for adaptations in the intimate partner relationship after the birth of a baby, and skills to promote settled infant behaviour. It addresses these two risk factors in half-day seminars, facilitated by trained maternal and child health nurses using non-psychiatric language, in groups of up to five couples and their four-week old infants in primary care. It is designed to promote confidence and reduce mental disorders by providing skills in sustainable sleep and settling strategies, and the re-negotiation of the unpaid household workload in non-confrontational ways. Materials include a Facilitators' Handbook, creatively designed worksheets for use in seminars, and a book for couples to take home for reference. A website provides an alternative means of access to the intervention.</p> <p>Conclusions</p> <p><it>What Were We Thinking! </it>is a postnatal mental health intervention which has the potential to contribute to psychologically-informed routine primary postnatal health care and prevent common mental disorders in women.</p