AD51B in Familial Breast Cancer

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

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10.1002/acr.21702Arthritis Care and Research64121938-ARCR

Association of slower walking speed with incident knee osteoarthritis- related outcomes

10.1002/acr.21655Arthritis Care and Research6471028-1035ARCR

Trends in ADL and IADL disability in community-dwelling older adults in Shanghai, China, 1998-2008

10.1093/geronb/gbt012Journals of Gerontology - Series B Psychological Sciences and Social Sciences683476-485JGBS

Geographical segregation and Interleukin-6, a marker of chronic inflammation in older adults

Aim To examine environmental sociodemographic risks of high IL-6, a marker of chronic inflammation in older adults. Methods We spatially linked 1990 USA Census tract demographic and economic measures to a prospective cohort study of representative community residents aged 71 years and older, from over 1700 of whom a cytokine protein and biological marker of chronic inflammation. IL-6, was collected. Using generalized interactive mixed models, we modeled 1989–1990 individual and census level risk factors for the dependent variable high IL-6 between 1992–1993 (high IL-6 = upper quartile: >2.96 pg/ml). Results After individual health risk adjustment, IL-6 remained elevated in communities with greater densities of poor older adults (odd ratio [OR]: 1.25 per 10% increase in exposure. 95% confidence interval [CI]: 1.05, 1.48) and in racially segregated communities (OR: 1.14 per 10% increase in exposure. 95% CI: 1.04, 1.25). Conclusions Socially disadvantaged environments may influence IL-6, a biomarker of age-associated inflammation

Gaelic singing and oral tradition

A recent report by UNESCO placed Scots Gaelic on a list of 2500 endangered languages highlighting the perilous state of a key cornerstone of Scottish culture. Scottish Gaelic song, poems and stories have been carried through oral transmission for many centuries reflecting the power of indigenous peoples to preserve cultural heritage from generation to generation without recourse to a written code. Against this background, this article highlights the growing support and development of the language in the last 30 years and the first findings of a research project into 'Scottish Gaelic Song and Oral Transmission'. It also highlights aspects of the historical background to Scottish Gaelic songs and poetry to set the context of the revival of interest in Gaelic traditional music and some of the measures and strategies developed to sustain the language and its cultural heritage within Scotland. It further discusses the nature of community and family discourse and oral transmission and delivers some early findings and insights into the research project, which is based on a series of interviews with Gaelic singers. The findings illuminate aspects of the oral tradition that could have an impact on the way in which traditional music is perceived and the nature of provision for this music in higher education in the UK. A number of institutions such as the University of Strathclyde, the Royal Scottish Academy of Music and Drama and Sabhal Mor Ostaig provide undergraduate courses that teach traditional music, including Gaelic singing, as one of the areas of study. This article potentially raises issues relating to Gaelic singing and the values, traits and practices inherent in oral transmission and how these could be promoted alongside and not be swamped by the accepted practices in teaching and learning in classical music