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To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.
Tree-ring chronologies of Pinus sylvestris L. from latitudinal and altitudinal limits of the species distribution have been widely used for climate reconstructions, but there are many sites within the temperate climate zone, as is the case in northeastern Germany, at which there is little evidence of a clear climate signal in the chronologies. In this study, we developed long chronologies of several cell structure variables (e. g., average lumen area and cell wall thickness) from P. sylvestris growing in northeastern Germany and investigated the influence of climate on ring widths and cell structure variables. We found significant correlations between cell structure variables and temperature, and between tree-ring width and relative humidity and vapor pressure, respectively, enabling the development of robust reconstructions from temperate sites that have not yet been realized. Moreover, it has been shown that it may not be necessary to detrend chronologies of cell structure variables and thus low-frequency climate signals may be retrieved from longer cell structure chronologies. The relatively extensive resource of archaeological material of P. sylvestris covering approximately the last millennium may now be useful for climate reconstructions in northeastern Germany and other sites in the temperate climate zone.
A novel procedure has been developed to conduct cell structure measurements on increment core samples of conifers. The procedure combines readily available hardware and software equipment. The essential part of the procedure is the application of a confocal laser scanning microscope (CLSM) which captures images directly from increment cores surfaced with the advanced WSL core-microtome. Cell wall and lumen are displayed with a strong contrast due to the monochrome black and green nature of the images. Consecutive images are merged into long images representing entire increment cores which are then analysed for cell structures in suitable software.