Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer

We carried out a genome-wide association study of breast cancer predisposition with replication and refinement studies involving 6,145 cases and 33,016 controls and identified two SNPs (rs4415084 and rs10941679) on 5p12 that confer risk, preferentially for estrogen receptor (ER)-positive tumors (OR = 1.27, P = 2.5 x 10(-12) for rs10941679). The nearest gene, MRPS30, was previously implicated in apoptosis, ER-positive tumors and favorable prognosis. A recently reported signal in FGFR2 was also found to associate specifically with ER-positive breast cancer.     

Germline mutations in RAD51D confer susceptibility to ovarian cancer

Recently, RAD51C mutations were identified in families with breast and ovarian cancer. This observation prompted us to investigate the role of RAD51D in cancer susceptibility. We identified eight inactivating RAD51D mutations in unrelated individuals from 911 breast-ovarian cancer families compared with one inactivating mutation identified in 1,060 controls (P = 0.01). The association found here was principally with ovarian cancer, with three mutations identified in the 59 pedigrees with three or more individuals with ovarian cancer (P = 0.0005). The relative risk of ovarian cancer for RAD51D mutation carriers was estimated to be 6.30 (95% CI 2.86-13.85, P = 4.8 × 10(-6)). By contrast, we estimated the relative risk of breast cancer to be 1.32 (95% CI 0.59-2.96, P = 0.50). These data indicate that RAD51D mutation testing may have clinical utility in individuals with ovarian cancer and their families. Moreover, we show that cells deficient in RAD51D are sensitive to treatment with a PARP inhibitor, suggesting a possible therapeutic approach for cancers arising in RAD51D mutation carriers.     

Meta-analysis identifies common variants associated with body mass index in east Asians

Multiple genetic loci associated with obesity or body mass index (BMI) have been identified through genome-wide association studies conducted predominantly in populations of European ancestry. We performed a meta-analysis of associations between BMI and approximately 2.4 million SNPs in 27,715 east Asians, which was followed by in silico and de novo replication studies in 37,691 and 17,642 additional east Asians, respectively. We identified ten BMI-associated loci at genome-wide significance (P < 5.0 × 10(-8)), including seven previously identified loci (FTO, SEC16B, MC4R, GIPR-QPCTL, ADCY3-DNAJC27, BDNF and MAP2K5) and three novel loci in or near the CDKAL1, PCSK1 and GP2 genes. Three additional loci nearly reached the genome-wide significance threshold, including two previously identified loci in the GNPDA2 and TFAP2B genes and a newly identified signal near PAX6, all of which were associated with BMI with P < 5.0 × 10(-7). Findings from this study may shed light on new pathways involved in obesity and demonstrate the value of conducting genetic studies in non-European populations.     

A common genetic risk factor for colorectal and prostate cancer

Variants on chromosome 8q24 contribute risk for prostate cancer; here, we tested whether they also modulate risk for colorectal cancer. We studied 1,807 affected individuals and 5,511 controls and found that one variant, rs6983267, is also significantly associated with colorectal cancer (odds ratio = 1.22; P = 4.4 x 10(-6)) and that the apportionment of risk among the variants differs significantly between the two cancers. Comprehensive testing in the region uncovered variants capturing significant additional risk. Our results show that variants at 8q24 have different effects on cancer development that depend on the tissue type.     

New occurrence of Ba-REE fluorcarbonate minerals at Bayan Obo, Inner Mongolia, North China, and their mineralogical features

Ba-REE fluorcarbonate minerals from a carbonatite dyke at Bayan Obo, Inner Mongolia, North China, are first reported in this contribution, in which chemical composition, rare earth element (REE) patterns, and intergrowth relationships for these minerals have been investigated. Syntactic intergrowth or syntaxy between cebaite and cordylite, as well as cordylite and huanghoite were observed. This syntactic texture resulted from the variation of chemical composition of crystallizing agents for those minerals that crystallized directly from carbonatite magmas. It is worth noting that REE patterns of the Ba-REE fluorcarbonate minerals in the dyke are similar to those of the corresponding minerals from the ore hosted dolomite marble of the Bayan Obo giant REE-Nb-Fe mineral deposit, which implies their relation in origin.     

Is the maximum carbon number of long-chain <Emphasis Type="Italic">n</Emphasis>-alkanes an indicator of grassland or forest? Evidence from surface soils and modern plants

The molecular distribution of long-chain n-alkanes in 62 soil samples collected from diverse locations across eastern China was analyzed.The long-chain n-alkanes were mostly dominated by n-C29 or n-C31,regardless of the overlying vegetation type at each site.The results were compared with those summarized from the literature,covering more than 100 soil samples within China and more than 300 genera of modern plants distributed worldwide.There were similar n-alkane distribution patterns for most genera, with no clear differences among grasses,shrubs,and trees.The evidence from analyses of surface soils and modern plants indicates that the relationship between the molecular distribution of long-chain n-alkanes of surface soils and source vegetation is highly complex,and is influenced by many factors.Further,it is suggested that source vegetation types should not be simply inferred from distribution patterns of long-chain n-alkanes in sediments.     

A survey and assessment of the rare vascular plants of the Idaho National Engineering Laboratory site

A two-year study of the rare vascular plants of the Idaho National Engineering Laboratory generated new data on the abundance, distribution, and habitat features of eight taxa presently under review at either the federal or state level, or recently proposed for such review. Astragalus ceramicus Sheld. var. apus Barneby is common on the INEL and adjacent areas and will be recommended for removal from further consideration at the federal level and placed on Idaho's Federal Watch List. Coryphanta missouriensis (Sweet) Britt. & Rose is common throughout east central Idaho, but will be recommended for retainment on the State Watch List. Gymnosteris nudicaulis (H. & A.) Greene and Oxytheca dendroidea Nutt. are also recommended for retention on the State Watch List. Four taxa not previously known to occur in Idaho or not known from the southeastern part of the state ( Astragalus gilviflorus Sheld., Astragalus kentrophyta Gray var. jessiae (Peck) Barneby, Gilia polycladon Torr., and Lesquerella kingii S. Wats. var. cobrensis Roll. & Shaw) were encountered and evaluated with reference to current or potential threats, and are recommended for placement on Idaho's State Watch List. &nbsp;&nbsp;&nbsp;     

Holocene vegetation and historic grazing impacts at Capitol Reef National Park reconstructed using packrat middens

Mid- to late-Holocene vegetation change from a remote high-desert site was reconstructed using plant macrofossils and pollen from 9 packrat middens ranging from 0 to 5400 yr in age. Presettlement middens consistently contained abundant macrofossils of plant species palatable to large herbivores that are now absent or reduced, such as winterfat ( Ceratoides lanata ) and ricegrass ( Stipa hymenoides ). Macrofossils and pollen of pinyon pine ( Pinus edulis ), sagebrush ( Artemisia spp.), and roundleaf buffaloberry ( Shepherdia rotundifolia ) were recently reduced to their lowest levels for the 5400-yr record. Conversely, species typical of overgrazed range, such as snakeweed ( Gutierrezia sarothrae ), viscid rabbitbrush ( Chrysothamnus visidiflorus ), and Russian thistle ( Salsola sp.), were not recorded prior to the historic introduction of grazing animals. Pollens of Utah juniper ( Juniperus osteosperma ) also increased during the last 200 yr. These records demonstrate that the most sever vegetation changes of the last 5400 yr occurred during the past 200 yr. The nature and timing of these changes suggest that they were primarily caused by the 19th-century open-land sheep and cattle ranching. The reduction of pinyon and sagebrush concurrent with other grazing impacts suggests that effects of cattle grazing at modern stocking levels may be a poor analog for the effects of intense sheep grazing during drought.