Northern European Populations Research Articles

MC1R Variation in a New Mexico Population.

The Melanocortin 1 Receptor (MC1R) contributes to pigmentation, an important risk factor for developing melanoma. Evaluating SNPs in MC1R and association with race/ethnicity, skin type, and perceived cancer risk in a New Mexico (NM) population will elucidate the role of MC1R in a multicultural population. We genotyped MC1R in 191 NMs attending a primary care clinic in Albuquerque. We obtained individuals' self-identified race/ethnicity, skin type, and perceived cancer risk. We defined genetic risk as carriage of any one or more of the nine most common SNPs in MC1R. We found that one MC1R SNP, R163Q (rs885479), was identified in 47.6% of self-identified Hispanics and 12.9% of non-Hispanic whites (NHW), making Hispanics at higher "genetic risk" (as defined by carrying one of the MC1R common variants). When we deleted R163Q from analyses, Hispanics were no longer at higher genetic risk (33.3%) compared with NHW (48.3%), consistent with melanoma rates, tanning ability, and lower perceived risk. Hispanics had a perceived risk significantly lower than NHW and a nonsignificant better tanning ability than NHW. The R163Q variant in MC1R may not be a risk factor for melanoma among NM Hispanics. This suggestion points to the need to carefully interpret genetic risk factors among specific populations. Genetic risk cannot be extrapolated from Northern European populations directly to non-European populations.

CTNS\xa0mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report

BackgroundCystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein cystinosin. CTNS mutations result in either complete absence or reduced cystine transporting function of the protein. The diagnosis of nephropathic cystinosis is generally based on measuring leukocyte cystine level, demonstration of corneal cystine crystals by the slit lamp examination and confirmed by genetic analysis of the CTNS gene.Case presentationA boy born to consanguineous Caucasian parents had the characteristic clinical features of the infantile nephropathic cystinosis including renal Fanconi syndrome (polydipsia/polyuria, metabolic acidosis, hypokalemia, hypophosphatemia, low molecular weight proteinuria, glycosuria, cystine crystals in the cornea) and elevated WBC cystine levels. Initially we performed RFLP analysis of the common in the Northern European population 57-kb deletion of proband’s DNA, then a direct Sanger sequencing which revealed no mutations in the coding part of the CTNS gene. To confirm the diagnosis we performed RT-PCR analysis of total RNA obtained from patient-derived fibroblasts in combination with cDNA sequencing. This revealed the skipping of exon 4 and exon 5 in the CTNS in our patient. Therefore, we detected a novel 9-kb homozygous deletion in the CTNS gene at genomic DNA level, spanning region from intron 3 to intron 5. In order to identify the inheritance pattern of the deletion we analyzed DNA of proband’s mother and father. Both parents were found to be heterozygous carriers of the CTNS mutation.ConclusionsAnalysis of CTNS gene transcript allowed to identify a large homozygous deletion in the patient with infantile nephropathic cystinosis. Mutational detection at RNA level may be an efficient tool to establish the genetic defect in some cystinosis patients.

The association between knee breadth and body mass: The Northern Finland Birth Cohort 1966 case study.

Body mass estimation from skeletal dimensions is a useful tool when studying archeological human samples. Bony articular surface dimensions of the lower limb have frequently been utilized to estimate body size. In the present study, we investigated the association between knee breadth and body mass in a Northern European population. Our study aimed to confirm both methodology and results presented in earlier studies. The study sample consists of 1,290 subjects belonging to the Northern Finland Birth Cohort 1966. Three knee breadth dimensions-femoral biepicondylar breadth, mediolateral breadth of femoral condyles, and mediolateral breadth of the tibial plateau-were measured from subjects' knee PA-radiographs. Measurements and their association with body weight at 31 years were utilized for creating body mass estimation equations using linear regression and reduced major axis regression. Correlations between knee measurements and body weight at three different ages (18, 31, and 46) were also analyzed. Positive associations were detected between each knee breadth variable and weight in the total sample and both genders separately. Body mass estimation equations were created for the total sample, for males and for females. R values of the models ranged from 0.38 to 0.74. Median absolute percent prediction errors ranged from 6.89 to 9.72%. The highest correlations were obtained between knee breadth and body weight in early adulthood. Our large sample confirmed that equations derived from knee breadth dimensions are accurate when estimating body mass of modern humans. Knee breadth measurements clearly have a positive association with body weight in early maturity.

C9orf72 intermediate expansions of 24\u201330 repeats are associated with ALS

The expansion of a hexanucleotide repeat GGGGCC in C9orf72 is the most common known cause of ALS accounting for ~ 40% familial cases and ~ 7% sporadic cases in the European population. In most people, the repeat length is 2, but in people with ALS, hundreds to thousands of repeats may be observed. A small proportion of people have an intermediate expansion, of the order of 20 to 30 repeats in size, and it remains unknown whether intermediate expansions confer risk of ALS in the same way that massive expansions do. We investigated the association of this intermediate repeat with ALS by performing a meta-analysis of four previously published studies and a new British/Alzheimer’s Disease Neuroimaging Initiative dataset of 1295 cases and 613 controls. The final dataset comprised 5071 cases and 3747 controls. Our meta-analysis showed association between ALS and intermediate C9orf72 repeats of 24 to 30 repeats in size (random-effects model OR = 4.2, 95% CI = 1.23–14.35, p-value = 0.02). Furthermore, we showed a different frequency of the repeat between the northern and southern European populations (Fisher’s exact test p-value = 5 × 10− 3). Our findings provide evidence for the association between intermediate repeats and ALS (p-value = 2 × 10− 4) with direct relevance for research and clinical practice by showing that an expansion of 24 or more repeats should be considered pathogenic.

Avian malaria-mediated population decline of a widespread iconic bird species.

Parasites have the capacity to affect animal populations by modifying host survival, and it is increasingly recognized that infectious disease can negatively impact biodiversity. Populations of the house sparrow (Passer domesticus) have declined in many European towns and cities, but the causes of these declines remain unclear. We investigated associations between parasite infection and house sparrow demography across suburban London where sparrow abundance has declined by 71% since 1995. Plasmodium relictum infection was found at higher prevalences (averaging 74%) in suburban London house sparrows than previously recorded in any wild bird population in Northern Europe. Survival rates of juvenile and adult sparrows and population growth rate were negatively related to Plasmodium relictum infection intensity. Other parasites were much less prevalent and exhibited no relationship with sparrow survival and no negative relationship with population growth. Low rates of co-infection suggested sparrows were not immunocompromised. Our findings indicate that P. relictum infection may be influencing house sparrow population dynamics in suburban areas. The demographic sensitivity of the house sparrow to P. relictum infection in London might reflect a recent increase in exposure to this parasite.

Episodic but ample sporophyte production in the moss Drepanocladus turgescens (Bryophyta: Amblystegiaceae) in SE Sweden

Abstract In the Baltic area, the long-lived dioicous wetland moss Drepanocladus turgescens (T.Jensen) Broth. produces sporophytes rarely and at irregular intervals. Based on surveys of sporophyte occurrences at 13 sites in two regions in northern Gotland (Sweden) during three to five years, we ask: (1) Is sporophyte formation associated with precipitation and a precipitation index that considers the dry periods during July-August of the preceding year, when gametangia are formed and fertilization occurs? (2) Does the estimated spore output suffice for the species’ long-term persistence of the (Northern) European population species? In one of the study regions, where D. turgescens occurs in depressions, sporophyte formation was associated with the two precipitation parameters. In the other study region, with relatively higher precipitation and exposed occurrences on a slightly sloping bedrock with very little accumulated soil, no such association existed. We suggest that this lack of weather effects results from that the exposed rock habitat requires longer continuously wet periods than the depression habitat to allow for gametangia initiation and development, and fertilisation. Average spore production for six spore capsules, from three Gotland localities was 181,000. Based on the sporophyte counts during the survey years, we estimated the total reproductive output as 411.5 million spores in 2013, and 42.5 million in 2015, in the two respective study regions. Taken together with data on haplotype patterns and considering observations on recent colonisations, we argue that such a relatively low and episodic regional spore production is sufficient to maintain global populations of long-lived species, even if these occur in specialized and geographically restricted habitats.

Distributions of three Alexandrium species and their toxins across a salinity gradient suggest an increasing impact of GDA producing A. pseudogonyaulax in shallow brackish waters of Northern Europe

Blooms of Alexandrium spp. are a well-known phenomenon in Northern European waters. While A. tamarense/catenella, and A. pseudogonyaulax have been reported from marine waters, high densities of A. ostenfeldii are mainly observed at lower salinities in North Sea estuaries and the Baltic Sea, suggesting salinity as a driver of Alexandrium species composition and toxin distribution. To investigate this relationship, an oceanographic expedition through a natural salinity gradient was conducted in June 2016 along the coasts of Denmark. Besides hydrographic data, phytoplankton and sediment samples were collected for analyses of Alexandrium spp. cell and cyst abundances, for toxin measurement and cell isolation. Plankton data revealed the predominance of A. pseudogonyaulax at all transect stations while A. ostenfeldii and A. catenella generally contributed a minor fraction to the Alexandrium community. High abundances of A. pseudogonyaulax in the shallow enclosed Limfjord were accompanied by high amounts of goniodomin A (GDA). This toxin was also detected at low abundances along with A. pseudogonyaulax in the North Sea and the Kattegat. Genetic and morphological characterization of established strains showed high similarity of the Northern European population to distant geographic populations. Despite low cell abundances of A. ostenfeldii, different profiles of cycloimines were measured in the North Sea and in the Limfjord. This field survey revealed that salinity alone does not determine Alexandrium species and toxin distribution, but emphasizes the importance of habitat conditions such as proximity to seed banks, shelter, and high nutrient concentrations. The results show that A. pseudogonyaulax has become a prominent member of the Alexandrium spp. community over the past decade in the study area. Analyses of long term monitoring data from the Limfjord confirmed a recent shift to A. pseudogonyaulax dominance. Cyst and toxin records of the species in Kiel Bight suggest a spreading potential into the brackish Baltic Sea, which might lead to an expansion of blooms under future climate conditions.

PS1204 SEVERE HEREDITARY HAEMOLYTIC ANAEMIA DUE TO THREE NOVEL SPTA1 MUTATIONS IN TWO COMPOUND HETEROZYGOUS UNRELATED PATIENTS

Background:Red blood cell (RBC) membrane defects are a cause of hereditary haemolytic anaemia (HHA) due to mutations in the genes that encode cytoskeletal proteins leading to a reduced cell deformity. Using next generation (NGS) and whole exome sequencing (WES), in two unrelated patients with HHA due to hereditary pyropoikilocytosis (HPP) and hereditary spherocytosis (HS), we have identified a complex set of mutations that affect SPTA1. Three are new: two due to an abnormal splicing and one to a micro election of chromosome 1Aims:The main objective of our task is to provide a fast and efficient diagnosis of HHA using NGS and WESMethods:NGS that includes a panel of 35 genes responsible for membranophaty (ANK1, EPB41, EPB42, SLC4A1, SPTB, SPTA1), haemoglobinopathy (HBA1, HBA2, HBB), enzymopathy (ADA, AK1, ALDOA, BPBM, CYB55, G6PD, GCLC, GPI, GSR, GSS, HK1, NT5C3A, PFKM, PGK1,) and CDA (CDAN1, C15orf41, SEC23B, KLF1, GATA1, KIF23). NGS and WES have been performed using an Illumina HiSeq2000 deviceResults:Patient 1. A 40 year‐old woman with HPP. CBC: Hb: 102 g/l, MCV: 101fl and Retics: 260 x109/l. The study was performed after splenectomy and the OGE curve was typical of severe HS. NGS revealed two canonical splice‐site mutations in SPTA1 gene: c.6842+2T>C and c.1599+2T>C. The c.6842+2T>C mutation is found in the lateral nucleation zone of a‐spectrin with b‐spectrin and produces an aberrant splicing eventually in 100% of the cases with a production of α‐chains unsuitable for spectrin dimerization, and a decrease of binding to skeleton during the heterodimers assembly. The c.1599+2T>C mutation is in the zone of association of spectrin dimers leading to an aberrant splicing eventually in 100% of the cases and probably a change in the protein conformation that produces a breakage of tetramerisation and a loss of skeleton stabilityPatient 2. A 2 year‐old boy with HS. CBC: 72 g/l, MCV 95 fl and Retics:182 x109/l. Splenomegaly. The OGE curve was typical of moderate HS. The NGS analysis demonstrated a coinheritance for two different mutations in SPTA1 gene: n.158537345_158849273del and c.4339–99C>T. The n.158537345_158849273del, confirmed by WES, leads to a micro deletion of chromosome 1 that removes the entire SPTA1, leading to the absence of α‐spectrin. The c.4339–99C>T, also known as spectrin α‐LEPRA, is an autosomic recessive mutation that causes a decrease of a‐chain of 84%. Both SPTA1 gene mutations are autosomal recessive and their co‐inheritance explains the severe HS.Summary/Conclusion:HPP and H are heterogeneous disorders of RBC membrane that can result from mutations in the genes encoding α‐spectrin (SPTA1). The resulting defects an abnormal horizontal and/or vertical cytoskeletal associations affecting the stability and deformability of RBC membrane. The clinical diagnosis of HE and HS is based on the identification of the characteristic RBC morphology and specific membrane rheological abnormalities using the OGE. Here, two unrelated patients with severe elliptocytosis (HPP) and HS are described with the joint inheritance of a complex set of mutations (four in total) in the SPTA1 gene; three are new and one is the known as α‐LEPRA. The correlation between genetic mutations NGS and EOG is discussed. Our study demonstrates the existence of complex interactions between SPTA1 gene mutations leading to severe haemolytic anaemia highlighting the usefulness of molecular diagnostics in patients with no identifiable family history of disorders of the erythrocyte cytoskeleton

Lyme neuroborreliosis and bird populations in northern Europe.

Many vector-borne diseases are transmitted through complex pathogen-vector-host networks, which makes it challenging to identify the role of specific host groups in disease emergence. Lyme borreliosis in humans is now the most common vector-borne zoonosis in the Northern Hemisphere. The disease is caused by multiple genospecies of Borrelia burgdorferi sensu lato bacteria transmitted by ixodid (hard) ticks, and the major host groups transmit Borrelia genospecies with different pathogenicity, causing variable clinical symptoms in humans. The health impact of a given host group is a function of the number of ticks it infects as well as the pathogenicity of the genospecies it carries. Borrelia afzelii, with mainly small mammals as reservoirs, is the most common pathogen causing Lyme borreliosis, and it is often responsible for the largest proportion of infected host-seeking tick nymphs in Europe. The bird-borne Borrelia garinii, though less prevalent in nymphal ticks, is more likely to cause Lyme neuroborreliosis, but whether B. garinii causes disseminated disease more frequently has not been documented. Based on extensive data of annual disease incidence across Norway from 1995 to 2017, we show here that 69% of disseminated Lyme borreliosis cases were neuroborreliosis, which is three times higher than predicted from the infection prevalence of B. garinii in host-seeking ticks (21%). The population estimate of migratory birds, mainly of thrushes, explained part of the annual variation in cases of neuroborreliosis, with a one-year time lag. We highlight the important role of the genospecies' pathogenicity and the host associations for understanding the epidemiology of disseminated Lyme borreliosis.

Presence and genetic variability of Piscine orthoreovirus genotype 1 (PRV-1) in wild salmonids in Northern Europe and North Atlantic Ocean.

Piscine orthoreovirus genotype 1 (PRV-1) is widespread in farmed Atlantic salmon (Salmo salar L.) populations in northern Europe, Canada and Chile. PRV-1 occurs in wild fish in Norway and Canada; however, little information of its geographical distribution in wild populations is currently available, and the effect of PRV-1 infection in wild populations is currently unknown. In this study, we present the findings of a survey conducted on 1,130 wild salmonids sampled in Denmark, Sweden, Ireland, Faroe Islands, France, Belgium and Greenland between 2008 and 2017. PRV-1 is reported for the first time in wild salmonids in Denmark, Sweden, Faroe Island and Ireland. The annual PRV-1 prevalence ranged from 0% in France, Belgium and Greenland to 43% in Faroe Islands. In total, 66 samples tested positive for PRV-1, including Atlantic salmon broodfish returning to spawn and Atlantic salmon collected at the feeding ground north of Faroe Islands. The phylogenetic analysis of S1 sequences of the PRV-1 isolates obtained in this survey did not show systematic geographical distribution. This study sheds light on the spread and genetic diversity of the virus identified in populations of free-living fish and provides rationale for screening wild broodfish used in restocking programmes.

Potential influence of Mesozoic and Tertiary tectonics on the evolution of European Hepialidae (Lepidoptera)

Author(s): Grehan, John; Knyazev, Svyatoslav | Abstract: The distributions of genera and species of Hepialidae in Europe are documented and mapped, along with species distributions extending to eastern Asia. Patterns of species allopatry in Korscheltellus, Pharmacis, and Triodia are consistent with vicariance resulting from late Cretaceous and early Cenozoic tectonics along the Alpine-Mediterranean Mobile Belt. Widespread northern and sympatric distributions are interpreted as the result of range expansion at the end of the Pleistocene. We suggest that the origin of high elevation endemic species of Hepialidae, particularly in the European Alps, is the result of passive tectonic uplift. Pleistocene cooling and glaciation is seen as responsible for extinction of populations in northern Europe, but without discernible impact on divergence. Absence of the northern Eurasian Hepialidae further south is attributed to an original Laurasian ancestral distribution in the Mesozoic. Fossil-calibrated divergence estimates generate minimum clade ages only, and current estimates for some European Hepialidae probably considerably underestimate their phylogenetic age.

High prevalence of genetic determined familial hypercholesterolemia in premature coronary artery disease.

Background: Premature coronary artery disease (CAD) is a major cause of mortality and morbidity. Increased low-density lipoprotein-cholesterol (LDL-C) level is a major risk factor for CAD and thus the main target for its prevention. Familial Hypercholesterolemia (FH) is a genetic inherited disorder characterized by high LDL-C, and subsequent premature CAD development. Early drug treatment with lipid-lowering medications in FH prevents cardiovascular disease onset.The FH prevalence in the Northern European general population is 0.3%, and it is estimated that it explains 20% of premature CAD cases in individuals with familial clustering. Despite the wide number of papers showing the prevalence of clinical FH in cardiovascular disease, the prevalence of genetic FH in individuals with premature CAD is not yet well known. Here, we examined the prevalence of genetically determined FH in individuals with premature CAD.Patients and methods: 66 patients who underwent coronary angiography with suspected premature acute coronary syndrome (age <50 years for men and <55 years for women) underwent genetic screening to identify FH-causing mutations. All patients underwent physical and clinical examinations. Information about family and personal history, drug therapy and habits were also collected.Results: We found FH-causative mutations in 3/66 (4.5%) screened individuals with premature CAD. When considering individuals with confirmed CAD after coronary angiography, the FH mutation prevalence was 6.1% (3/49). After excluding individuals with classical risk factors for CAD other than hypercholesterolemia, the FH mutation prevalence raised to 15.8% (3/19).Conclusion: In conclusion, we found that individuals with premature CAD have a more than 15-fold increased prevalence of FH mutations compared to the general population.

Inflorescence shoot elongation, but not flower primordia formation, is photoperiodically regulated in Arabidopsis lyrata.

Photoperiod contains information about the progress of seasons. Plants use the changing photoperiod as a cue for the correct timing of important life history events, including flowering. Here the effect of photoperiod on flowering in four Arabidopsis lyrata populations originating from different latitudes was studied, as well as expression levels of candidate genes for governing the between-population differences. Flowering of plants from four A. lyrata populations was studied in three different photoperiods after vernalization. Flowering development was separated into three steps: flower primordia formation, inflorescence shoot elongation and opening of the first flower. Circadian expression rhythms of the A. lyrata homologues of GIGANTEA (GI), FLAVIN-BINDING, KELCH REPEAT, F-BOX 1 (FKF1), CONSTANS (CO) and FLOWERING LOCUS T (FT) were studied in three of the populations in the intermediate (14 h) photoperiod treatment. Most plants in all populations formed visible flower primordia during vernalization. Further inflorescence development after vernalization was strongly inhibited by short days in the northern European population (latitude 61°N), only slightly in the central European population (49°N) and not at all in the North American populations (36°N and 42°N). In the 14 h daylength, where all plants from the three southernmost populations but only 60 % of the northernmost population flowered, the circadian expression rhythm of the A. lyrata FT was only detected in the southern populations, suggesting differentiation in the critical daylength for activation of the long-day pathway. However, circadian expression rhythms of A. lyrata GI, FKF1 and CO were similar between populations. The results indicate that in A. lyrata, transition to flowering can occur through pathways independent of long days, but elongation of inflorescences is photoperiodically regulated.

Current vitamin D status in European and Middle East countries and strategies to prevent vitamin D deficiency: a position statement of the European Calcified Tissue Society.

Vitamin D deficiency (serum 25-hydroxyvitamin D (25(OH)D) <50 nmol/L or 20 ng/mL) is common in Europe and the Middle East. It occurs in <20% of the population in Northern Europe, in 30-60% in Western, Southern and Eastern Europe and up to 80% in Middle East countries. Severe deficiency (serum 25(OH)D <30 nmol/L or 12 ng/mL) is found in >10% of Europeans. The European Calcified Tissue Society (ECTS) advises that the measurement of serum 25(OH)D be standardized, for example, by the Vitamin D Standardization Program. Risk groups include young children, adolescents, pregnant women, older people (especially the institutionalized) and non-Western immigrants. Consequences of vitamin D deficiency include mineralization defects and lower bone mineral density causing fractures. Extra-skeletal consequences may be muscle weakness, falls and acute respiratory infection, and are the subject of large ongoing clinical trials. The ECTS advises to improve vitamin D status by food fortification and the use of vitamin D supplements in risk groups. Fortification of foods by adding vitamin D to dairy products, bread and cereals can improve the vitamin D status of the whole population, but quality assurance monitoring is needed to prevent intoxication. Specific risk groups such as infants and children up to 3 years, pregnant women, older persons and non-Western immigrants should routinely receive vitamin D supplements. Future research should include genetic studies to better define individual vulnerability for vitamin D deficiency, and Mendelian randomization studies to address the effect of vitamin D deficiency on long-term non-skeletal outcomes such as cancer.

Gender dysphoria in adolescent population: A 5-year replication study.

The aim of this study was to explore whether there has been an increase in prevalence and changes in sex ratio in feelings of gender dysphoria (GD) in an adolescent population in Northern Europe, and to study the impact of invalid responding on this topic. We replicated an earlier survey among junior high school students in Tampere, Finland. All first and second year students, aged 16-18, in the participating schools were invited to respond to an anonymous classroom survey on gender experience during the 2012-2013 school year and in the spring and autumn terms of 2017. Gender identity/GD was measured using the GIDYQ-A. A total of 318 male and 401 female youth participated in 2012-2013, and 326 male and 701 female youth in 2017. In the earlier survey, the GIDYQ-A scores, both among males and females, were strongly skewed toward a cis-gender experience with very narrow interquartile ranges. Of males, 2.2%, and of females, 0.5% nevertheless reported possibly clinically significant GD. The 2017 GIDYQ-A distribution was similarly skewed. The proportion of those reporting potentially clinically significant GD was 3.6% among males and 2.3% among females. Validity screening proved to have a considerable impact on conclusions. GD seems to have increased in prevalence in the adolescent population.

Conservation genetics of the pond bat (Myotis dasycneme) with special focus on the populations in northwestern Germany and in Jutland, Denmark.

Conservation genetics is important in the management of endangered species, helping to understand their connectivity and long‐term viability, thus identifying populations of importance for conservation. The pond bat (Myotis dasycneme) is a rare species classified as “Near Threatened” with a wide but patchy Palearctic distribution. A total of 277 samples representing populations in Denmark, Germany, Latvia, Hungary, and Russia were used in the genetic analyses; 224 samples representing Denmark, Germany, and Russia were analyzed at 10 microsatellite loci; 241 samples representing all areas were analyzed using mitochondrial D‐loop and cytochrome B sequences. A Bayesian clustering approach revealed two poorly resolved clusters, one representing the Danish and German groups and the other the Russian group. However, significantly different pairwise F ST and D EST estimates were observed between the Danish and German groups and between the Danish and Russian groups suggesting a recent population structure. These conflicting results might be attributed to the effect of migration or low resolution due to the number of microsatellite markers used. After concatenating the two mitochondrial sequences, analysis detected significant genetic differentiation between all populations, probably due to genetic drift combined with a founder event. The phylogenetic tree suggested a closer relationship between the Russian and Northern European populations compared to the Hungarian population, implying that the latter belongs to an older ancestral population. This was supported by the observed haplotype network and higher nucleotide diversity in this population. The genetic structuring observed in the Danish/German pond bat stresses the need for a cross‐border management between the two countries. Further, the pronounced mtDNA structuring, together with the indicated migration between nearby populations suggest philopatric female behavior but male migration, emphasizes the importance of protecting suitable habitat mosaics to maintain a continuum of patches with dense pond bat populations across the species' distribution range.

Range expansion of the small spruce bark beetle Ips amitinus: a newcomer in northern Europe

AbstractIps amitinus arrived in Northern Europe at the beginning of 1900s, although its recent expansions to the northernmost conifers have been rapid. Analyses of recent records, MaxEnt models and regional population size estimates are used to discuss its peculiar range shifts and potential as a forest pest in Northern Europe. Ips amitinus was probably absent in northern glacial refugia for Norway spruce in the Russian plain and northward expansions from its glacial refugia in the Central European mountains may have been slowed down by: (i) ecological barriers of post‐glacial dry plains and bogs in Central Europe; (ii) heavy utilization of conifers; and (iii) Allee effects as a result of fragmented forests and an unfavourable climate for a cold‐adapted species in the continental lowlands. MaxEnt models predict that I. amitinus may become widespread in the Northern European forests, whereas its populations in the southernmost mountain ranges of Europe may decline in the future. The population levels of I. amitinus in recently invaded northern areas are still lower than those in core areas of Central Europe, although the population development in Central Europe indicates that future bark beetle outbreak periods may boost the I. amitinus populations in Northern Europe as well.

Genetic analysis of a recently established Undaria pinnatifida (Laminariales: Alariaceae) population in the northern Wadden Sea reveals close proximity between drifting thalli and the attached population

ABSTRACTUndaria pinnatifida, a kelp species native to East Asia, has become cosmopolitan and drawn increasing attention due to its worldwide spread in recent decades. Floating fragments of this alga were found washed ashore on Sylt in 2016, the first record of this species in Germany. Thalli attached to local oyster reefs were detected in 2017. The genetic relationship between the floating and attached thalli on Sylt, as well as their relevance to the populations from northern Europe and native regions, was hitherto unknown. Here, 10 microsatellite markers were used to assess relationships between the recently established population on Sylt and five other northern European populations in France (Brittany, West English Channel), the Netherlands and England (Plymouth, West English Channel) plus three natural populations in China. Almost no genetic differentiation was detected between the floating and attached populations on Sylt, but they were genetically distinct from all the other studied northern European populations. The very low genetic diversity revealed in the new founder populations of Sylt suggests that they came from genetically similar parents. The marked reduction in both the number of alleles and heterozygosity in the northern European populations, as compared with the Chinese ones, is typical of founder effects in recently populated regions. Prominent genetic divergence was found between most of the northern European populations except those within Brittany and Sylt. Further studies will focus on identifying the putative source populations that might be found on shellfish farms, in local marinas or the benthic habitats around Sylt Island.

Changing epidemiology of motor neurone disease in Scotland.

Scotland benefits from an integrated national healthcare team for motor neurone disease (MND) and a tradition of rich clinical data capture using the Scottish MND Register (launched in 1989; one of the first national registers). The Scottish register was re-launched in 2015 as Clinical Audit Research and Evaluation of MND (CARE-MND), an electronic platform for prospective, population-based research. We aimed to determine if incidence of MND is changing over time. Capture-recapture methods determined the incidence of MND in 2015-2016. Incidence rates for 2015-2016 and 1989-1998 were direct age and sex standardised to allow time-period comparison. Phenotypic characteristics and socioeconomic status of the cohort are described. Coverage of the CARE-MND platform was 99%. Crude incidence in the 2015-2017 period was 3.83/100,000 person-years (95% CI 3.53-4.14). Direct age-standardised incidence in 2015 was 3.42/100,000 (95% CI 2.99-3.91); in 2016, it was 2.89/100,000 (95% CI 2.50-3.34). The 1989-1998 direct standardised annual incidence estimate was 2.32/100,000 (95% CI 2.26-2.37). 2015-2016 standardised incidence was 66.9% higher than Northern European estimates. Socioeconomic status was not associated with MND. Our data show a changing landscape of MND in Scotland, with a rise in incidence by 36.0% over a 25-year period. This is likely attributable to ascertainment in the context of improved neurological services in Scotland. Our data suggest that CARE-MND is a reliable national resource and findings can be extrapolated to the other Northern European populations.

Compensatory mechanisms to climate change in the widely distributed species Silene vulgaris

Abstract The adaptation of plants to future climatic conditions is crucial for their survival. Not surprisingly, phenotypic responses to climate change have already been observed in many plant populations. These responses may be due to evolutionary adaptive changes or phenotypic plasticity. Especially plant species with a wide geographic range are either expected to show genetic differentiation in response to differing climate conditions or to have a high phenotypic plasticity. We investigated phenotypic responses and plasticity as an estimate of the adaptive potential in the widespread species Silene vulgaris. In a greenhouse experiment, 25 European populations covering a geographic range from the Canary Islands to Sweden were exposed to three experimental precipitation and two temperature regimes mimicking a possible climate‐change scenario for central Europe. We hypothesized that southern populations have a better performance under high temperature and drought conditions, as they are already adapted to a comparable environment. We found that our treatments significantly influenced the plants, but did not reveal a latitudinal difference in response to climate treatments for most plant traits. Only flower number showed a stronger plasticity in northern European populations (e.g. Swedish populations) where numbers decreased more drastically with increased temperature and decreased precipitation treatment. Synthesis. The significant treatment response in Silene vulgaris, independent of population origin – except for the number of flowers produced – suggests a high degree of universal phenotypic plasticity in this widely distributed species. This reflects the likely adaptation strategy of the species and forms the basis for a successful survival strategy during upcoming climatic changes. However, as flower number, a strongly fitness‐related trait, decreased more strongly in northern populations under a climate‐change scenario, there might be limits to adaptation even in this widespread, plastic species.