Dyadic Coping in Patients Undergoing Radiotherapy for Head and Neck Cancer and Their Spouses

Background: Head and neck cancer (HNC) adversely affects the psychological (i.e., depression, anxiety) and marital adjustment of patients and their spouses. Dyadic coping refers to how couples cope with stress. It includes positive actions like sharing practical or emotional concerns (i.e., problem- and emotion-focused stress communication; PFSC, EFSC), and engaging in problem- or emotion-focused actions to support each other (problem- and emotion-focused dyadic coping; PFDC, EFDC). It also includes negative actions like avoidance (negative dyadic coping; NEGDC). In this secondary analysis of a randomized pilot trial of a couple-based intervention called SHARE (Spouses coping with the Head And neck Radiation Experience), we first examined associations between patients’ and spouses’ dyadic coping (and satisfaction with dyadic coping; SATDC) and their own/each other’s psychological and marital adjustment. Next, we examined the effects of SHARE relative to usual medical care (UMC) on patients’ and spouses’ dyadic coping. Finally, we examined whether changes in dyadic coping were associated with changes in patients’ and spouses’ psychological and marital adjustment.Methods and Measures: Thirty HNC patients (80% men) and their spouses (N = 60) completed baseline surveys prior to initiating radiotherapy (RT) and were randomized to SHARE or UMC. One month after RT, they completed follow-up surveys.Results: Baseline multilevel Actor-Partner Interdependence Models revealed significant actor effects of PFSC (effect size r = −0.32) and PFDC (r = −0.29) on depression. For marital adjustment, significant actor effects were found for PFSC, PFDC, EFDC, and SATDC (p < 0.05, r = 0.23 to 0.38). Actor (r = −0.35) and partner effects (r = −0.27) for NEGDC were also significant. Moderate to large effect sizes were found in favor of SHARE on PFSC (Cohen’s d = 1.14), PFDC (d = 0.64), NEGDC (d = −0.68), and SATDC (d = 1.03). Improvements in PFDC were associated with reductions in depression and anxiety (p < 0.05); and, improvements in SATDC were associated with improvements in anxiety and marital adjustment (p < 0.05).Conclusion: The SHARE intervention improved positive and decreased negative dyadic coping for patients and spouses. Increases in positive dyadic coping were also associated with improvements in psychological and marital adjustment. Although findings are preliminary, more research on ways to integrate dyadic coping into oncology supportive care interventions appears warranted

Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae

It has been argued that the limited genetic diversity and reduced allelic heterogeneity observed in isolated founder populations facilitates discovery of loci contributing to both Mendelian and complex disease. A strong founder effect, severe isolation, and substantial inbreeding have dramatically reduced genetic diversity in natives from the island of Kosrae, Federated States of Micronesia, who exhibit a high prevalence of obesity and other metabolic disorders. We hypothesized that genetic drift and possibly natural selection on Kosrae might have increased the frequency of previously rare genetic variants with relatively large effects, making these alleles readily detectable in genome-wide association analysis. However, mapping in large, inbred cohorts introduces analytic challenges, as extensive relatedness between subjects violates the assumptions of independence upon which traditional association test statistics are based. We performed genome-wide association analysis for 15 quantitative traits in 2,906 members of the Kosrae population, using novel approaches to manage the extreme relatedness in the sample. As positive controls, we observe association to known loci for plasma cholesterol, triglycerides, and C-reactive protein and to a compelling candidate loci for thyroid stimulating hormone and fasting plasma glucose. We show that our study is well powered to detect common alleles explaining ≥5% phenotypic variance. However, no such large effects were observed with genome-wide significance, arguing that even in such a severely inbred population, common alleles typically have modest effects. Finally, we show that a majority of common variants discovered in Caucasians have indistinguishable effect sizes on Kosrae, despite the major differences in population genetics and environment

High Differentiation among Eight Villages in a Secluded Area of Sardinia Revealed by Genome-Wide High Density SNPs Analysis

To better design association studies for complex traits in isolated populations it's important to understand how history and isolation moulded the genetic features of different communities. Population isolates should not “a priori” be considered homogeneous, even if the communities are not distant and part of a small region. We studied a particular area of Sardinia called Ogliastra, characterized by the presence of several distinct villages that display different history, immigration events and population size. Cultural and geographic isolation characterized the history of these communities. We determined LD parameters in 8 villages and defined population structure through high density SNPs (about 360 K) on 360 unrelated people (45 selected samples from each village). These isolates showed differences in LD values and LD map length. Five of these villages show high LD values probably due to their reduced population size and extreme isolation. High genetic differentiation among villages was detected. Moreover population structure analysis revealed a high correlation between genetic and geographic distances. Our study indicates that history, geography and biodemography have influenced the genetic features of Ogliastra communities producing differences in LD and population structure. All these data demonstrate that we can consider each village an isolate with specific characteristics. We suggest that, in order to optimize the study design of complex traits, a thorough characterization of genetic features is useful to identify the presence of sub-populations and stratification within genetic isolates

A Genome-Wide Scan of Ashkenazi Jewish Crohn's Disease Suggests Novel Susceptibility Loci

Crohn's disease (CD) is a complex disorder resulting from the interaction of intestinal microbiota with the host immune system in genetically susceptible individuals. The largest meta-analysis of genome-wide association to date identified 71 CD–susceptibility loci in individuals of European ancestry. An important epidemiological feature of CD is that it is 2–4 times more prevalent among individuals of Ashkenazi Jewish (AJ) descent compared to non-Jewish Europeans (NJ). To explore genetic variation associated with CD in AJs, we conducted a genome-wide association study (GWAS) by combining raw genotype data across 10 AJ cohorts consisting of 907 cases and 2,345 controls in the discovery stage, followed up by a replication study in 971 cases and 2,124 controls. We confirmed genome-wide significant associations of 9 known CD loci in AJs and replicated 3 additional loci with strong signal (p<5×10−6). Novel signals detected among AJs were mapped to chromosomes 5q21.1 (rs7705924, combined p = 2×10−8; combined odds ratio OR = 1.48), 2p15 (rs6545946, p = 7×10−9; OR = 1.16), 8q21.11 (rs12677663, p = 2×10−8; OR = 1.15), 10q26.3 (rs10734105, p = 3×10−8; OR = 1.27), and 11q12.1 (rs11229030, p = 8×10−9; OR = 1.15), implicating biologically plausible candidate genes, including RPL7, CPAMD8, PRG2, and PRG3. In all, the 16 replicated and newly discovered loci, in addition to the three coding NOD2 variants, accounted for 11.2% of the total genetic variance for CD risk in the AJ population. This study demonstrates the complementary value of genetic studies in the Ashkenazim