17 research outputs found

    AD51B in Familial Breast Cancer

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    Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of RAD51B variants in breast cancer predisposition, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of RAD51B in 168 Finnish breast cancer patients from the Helsinki region for identification of possible recurrent founder mutations. In addition, we studied the known rs999737, rs2588809, and rs1314913 SNPs and RAD51B haplotypes in 44,791 breast cancer cases and 43,583 controls from 40 studies participating in the Breast Cancer Association Consortium (BCAC) that were genotyped on a custom chip (iCOGS). We identified one putatively pathogenic missense mutation c.541C>T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11–1.19, P = 8.88 x 10−16) and among familial cases (OR: 1.24, 95% CI: 1.16–1.32, P = 6.19 x 10−11), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk

    Latino beliefs about diabetes

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    OBJECTIVE - To describe Latino beliefs about diabetes and assess heterogeneity in beliefs across different groups. RESEARCH DESIGN AND METHODS - This study comprised a survey of 161 representative Latino adults from four diverse communities: Hartford, Connecticut; Edinburg, Texas; Guadalajara, Mexico; and rural Guatemala. A 130-item questionnaire covered causes, symptoms, and treatments for diabetes. Information on demographics and acquaintanceship with someone with diabetes was also collected. The cultural consensus model was used to analyze the variation in responses to determine whether the degree of consistency within and between samples was sufficient to warrant aggregation and description as a single set of beliefs. RESULTS - Homogeneous beliefs were present within each of the four samples. Although variability in responses increased significantly from Connecticut to Guatemala (P < 0.00005), there was significant agreement between samples on the answers (P < 0.0005). Answers tended to be concordant with the biomedical description of diabetes. Greater acculturation, higher educational attainment, and higher diabetes prevalence were associated with greater cultural knowledge about diabetes In Connecticut, greater knowledge correlated with longer mainland U.S. residency (P < 0.05). In Mexico, those with average educational attainment knew more (P < 0.05). Finally, average knowledge levels were higher in communities with greater diabetes prevalence. CONCLUSIONS - The cultural consensus model facilitated assessment of cultural beliefs regarding diabetes and diabetes management. Overall, Latino cultural beliefs about diabetes were concordant with the biomedical model. Variation in responses tended to characterize less knowledge or experience with diabetes and not different beliefs

    Consensus theory model of AIDS/SIDA beliefs in four Latino populations

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    To describe Latino beliefs about AIDS (SIDA), Latino adults were sampled at two U.S. sites (Connecticut and Texas) and two international sites (Mexico and Guatemala). A 125-item questionnaire covered risk factors, symptoms, treatments, and sequellae of AIDS. The cultural consensus model was used to determine the cultural beliefs for each sample. Responses from 161 people indicated that a single set of beliefs was present at each site and that beliefs were shared across sites. Comparison of answers between samples indicated high agreement (p < .0007). The proportion of shared beliefs, however, decreased significantly between samples: .68 in Connecticut, .60 in Texas, .51 in Mexico, and .41 in Guatemala (p < .05). The proportion of positive answers similarly decreased from Connecticut to Guatemala (p < .001). Beliefs were stronger and more detailed in the higher prevalence areas. Furthermore, Latino beliefs tended to converge on biomedical beliefs about the disease

    Vectorial shearing interferometer used in defocus detection

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    In a comparative study of evil eye (mal de ojo), we demonstrate a methodology appropriate for the study of cultural transmission of beliefs. We studied four diverse populations with historical links to Spain: Puerto Ricans in Connecticut, Mexican Americans in south Texas, Mexicans in Guadalajara, and rural Guatemalans. Using agreement on ideas or themes about evil eye within and across sites, we identify specific ideas that may have persisted through time. The relevance of specific themes was estimated with a cultural consensus analysis. Mal de ojo was widely recognized in each community and higher community prevalence was associated with higher agreement on reported causes, symptoms, and treatments. Each community exhibited a distinct model for ojo, although models were highly similar between sites. Agreement among individuals and across communities suggests a pan-regional description for mal de ojo and possible content of older versions of these beliefs in Latin America. " 2014 SAGE Publications",,,,,,"10.1177/1069397114539268",,,"http://hdl.handle.net/20.500.12104/45646","http://www.scopus.com/inward/record.url?eid=2-s2.0-84925010172&partnerID=40&md5=9c2cdabe0098309160b7fd609eb4664b",,,,,,"2",,"Cross-Cultural Research",,"17

    Variation and Persistence in Latin American Beliefs About Evil Eye

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    In a comparative study of evil eye (mal de ojo), we demonstrate a methodology appropriate for the study of cultural transmission of beliefs. We studied four diverse populations with historical links to Spain: Puerto Ricans in Connecticut, Mexican Americans in south Texas, Mexicans in Guadalajara, and rural Guatemalans. Using agreement on ideas or themes about evil eye within and across sites, we identify specific ideas that may have persisted through time. The relevance of specific themes was estimated with a cultural consensus analysis. Mal de ojo was widely recognized in each community and higher community prevalence was associated with higher agreement on reported causes, symptoms, and treatments. Each community exhibited a distinct model for ojo, although models were highly similar between sites. Agreement among individuals and across communities suggests a pan-regional description for mal de ojo and possible content of older versions of these beliefs in Latin America. © 2014 SAGE Publication
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