Identification of low-frequency variants associated with gout and serum uric acid levels

We tested 16 million SNPs, identified through whole-genome sequencing of 457 Icelanders, for association with gout and serum uric acid levels. Genotypes were imputed into 41,675 chip-genotyped Icelanders and their relatives, for effective sample sizes of 968 individuals with gout and 15,506 individuals for whom serum uric acid measurements were available. We identified a low-frequency missense variant (c.1580C>G) in ALDH16A1 associated with gout (OR = 3.12, P = 1.5 × 10(-16), at-risk allele frequency = 0.019) and serum uric acid levels (effect = 0.36 s.d., P = 4.5 × 10(-21)). We confirmed the association with gout by performing Sanger sequencing on 6,017 Icelanders. The association with gout was stronger in males relative to females. We also found a second variant on chromosome 1 associated with gout (OR = 1.92, P = 0.046, at-risk allele frequency = 0.986) and serum uric acid levels (effect = 0.48 s.d., P = 4.5 × 10(-16)). This variant is close to a common variant previously associated with serum uric acid levels. This work illustrates how whole-genome sequencing data allow the detection of associations between low-frequency variants and complex traits.     

氧化钙部分稳定的氧化锆陶瓷渗氧机理的研究

本文采用渗氧池的方法研究了氧化钙-氧化锆陶瓷在960—1450℃的温度范围内的渗氧性,渗氧池一侧的氧分压(P′o_2)为10~(-3)～1大气压,另一侧的氧分压(P″o_2)为10~(-0)～10~(-4)大气压,单位时间单位面积渗氧量与(P′o_2~(1/n)-P″o_2~(1/n))成正比,其中指数项中的n值依赖于样品的微观结构和厚度,所导出的由内部扩散及表面反应混合控制的机理与实验结果一致,从而满意地解释了渗氧性对氧压依赖关系的特异规律,内部扩散及表面反应的活化能相近,约为200kJ/mol。     

A common inversion under selection in Europeans

A refined physical map of chromosome 17q21.31 uncovered a 900-kb inversion polymorphism. Chromosomes with the inverted segment in different orientations represent two distinct lineages, H1 and H2, that have diverged for as much as 3 million years and show no evidence of having recombined. The H2 lineage is rare in Africans, almost absent in East Asians but found at a frequency of 20% in Europeans, in whom the haplotype structure is indicative of a history of positive selection. Here we show that the H2 lineage is undergoing positive selection in the Icelandic population, such that carrier females have more children and have higher recombination rates than noncarriers.     

Tropical to mid-latitude snow and ice accumulation, flow and glaciation on Mars

Images from the Mars Express HRSC (High-Resolution Stereo Camera) of debris aprons at the base of massifs in eastern Hellas reveal numerous concentrically ridged lobate and pitted features and related evidence of extremely ice-rich glacier-like viscous flow and sublimation. Together with new evidence for recent ice-rich rock glaciers at the base of the Olympus Mons scarp superposed on larger Late Amazonian debris-covered piedmont glaciers, we interpret these deposits as evidence for geologically recent and recurring glacial activity in tropical and mid-latitude regions of Mars during periods of increased spin-axis obliquity when polar ice was mobilized and redeposited in microenvironments at lower latitudes. The data indicate that abundant residual ice probably remains in these deposits and that these records of geologically recent climate changes are accessible to future automated and human surface exploration.     

氧化钙-氧化锆陶瓷中过剩氧浓度的确定

本文采用吸收-解吸氧的方法测定了CaO-ZrO_2在氧压10~(-8)～1.0大气压范围内的过剩氧浓度,实验研究了影响过剩氧浓度的各种因素:氧压,温度,掺杂氧化物及杂质。结果表明,具有变价的过渡金属氧化物是该材料过剩氧浓度的决定因素。关于电子正孔扑捉模型的假设从实验上得到了证实。在本文条件下电子正孔的扑捉中心是Fe″Z r。过剩氧浓度随温度升高而升高。氧在该陶瓷的溶解热为191 kJ/mole。利用晶体缺陷热力学平衡导出了电子正孔浓度与氧压的依赖关系,在恒温下电子正孔总浓度正比于Po_2~(1/4),理论表达式与实验测量结果一致。本文的发现对于改进固体电解质的响应时间具有重要意义。