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- Aad, G., et al.
(author)
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- 2012
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In: Physical Review D (Particles, Fields, Gravitation and Cosmology). - 1550-2368 .- 1550-7998. ; 86:7
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Journal article (peer-reviewed)
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- Ikram, M. Arfan, et al.
(author)
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Common variants at 6q22 and 17q21 are associated with intracranial volume
- 2012
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:5, s. 539-544
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Journal article (peer-reviewed)abstract
- During aging, intracranial volume remains unchanged and represents maximally attained brain size, while various interacting biological phenomena lead to brain volume loss. Consequently, intracranial volume and brain volume in late life reflect different genetic influences. Our genome-wide association study (GWAS) in 8,175 community-dwelling elderly persons did not reveal any associations at genome-wide significance (P < 5 x 10(-8)) for brain volume. In contrast, intracranial volume was significantly associated with two loci: rs4273712 (P = 3.4 x 10(-11)), a known height-associated locus on chromosome 6q22, and rs9915547 (P = 1.5 x 10(-12)), localized to the inversion on chromosome 17q21. We replicated the associations of these loci with intracranial volume in a separate sample of 1,752 elderly persons (P = 1.1 x 10(-3) for 6q22 and 1.2 x 10(-3) for 17q21). Furthermore, we also found suggestive associations of the 17q21 locus with head circumference in 10,768 children (mean age of 14.5 months). Our data identify two loci associated with head size, with the inversion at 17q21 also likely to be involved in attaining maximal brain size.
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- Taal, H. Rob, et al.
(author)
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Common variants at 12q15 and 12q24 are associated with infant head circumference
- 2012
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:5, s. 532-538
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Journal article (peer-reviewed)abstract
- 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.
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| 6. |
- Li, M, et al.
(author)
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Allelic differences between Europeans and Chinese for CREB1 SNPs and their implications in gene expression regulation, hippocampal structure and function, and bipolar disorder susceptibility.
- 2014
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In: Molecular psychiatry. - : Springer Science and Business Media LLC. - 1476-5578 .- 1359-4184. ; 19:4
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Journal article (peer-reviewed)abstract
- Bipolar disorder (BD) is a polygenic disorder that shares substantial genetic risk factors with major depressive disorder (MDD). Genetic analyses have reported numerous BD susceptibility genes, while some variants, such as single-nucleotide polymorphisms (SNPs) in CACNA1C have been successfully replicated, many others have not and subsequently their effects on the intermediate phenotypes cannot be verified. Here, we studied the MDD-related gene CREB1 in a set of independent BD sample groups of European ancestry (a total of 64888 subjects) and identified multiple SNPs significantly associated with BD (the most significant being SNP rs6785[A], P=6.32 × 10−5, odds ratio (OR)=1.090). Risk SNPs were then subjected to further analyses in healthy Europeans for intermediate phenotypes of BD, including hippocampal volume, hippocampal function and cognitive performance. Our results showed that the risk SNPs were significantly associated with hippocampal volume and hippocampal function, with the risk alleles showing a decreased hippocampal volume and diminished activation of the left hippocampus, adding further evidence for their involvement in BD susceptibility. We also found the risk SNPs were strongly associated with CREB1 expression in lymphoblastoid cells (P<0.005) and the prefrontal cortex (P<1.0 × 10−6). Remarkably, population genetic analysis indicated that CREB1 displayed striking differences in allele frequencies between continental populations, and the risk alleles were completely absent in East Asian populations. We demonstrated that the regional prevalence of the CREB1 risk alleles in Europeans is likely caused by genetic hitchhiking due to natural selection acting on a nearby gene. Our results suggest that differential population histories due to natural selection on regional populations may lead to genetic heterogeneity of susceptibility to complex diseases, such as BD, and explain inconsistencies in detecting the genetic markers of these diseases among different ethnic populations.
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- van den Berg-Emons, R. J., et al.
(author)
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Validation of the Physical Activity Scale for individuals with physical disabilities
- 2011
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In: Archives of Physical Medicine and Rehabilitation. - : Elsevier BV. - 0003-9993 .- 1532-821X. ; 92:6, s. 923-8
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Journal article (peer-reviewed)abstract
- OBJECTIVE: To determine the criterion validity of the Physical Activity Scale for Individuals With Physical Disabilities (PASIPD) by means of daily physical activity levels measured by using a validated accelerometry-based activity monitor in a large group of persons with a physical disability. DESIGN: Cross-sectional. SETTING: Participants' home environment. PARTICIPANTS: Ambulatory and nonambulatory persons with cerebral palsy, meningomyelocele, or spinal cord injury (N=124). INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Self-reported physical activity level measured by using the PASIPD, a 2-day recall questionnaire, was correlated to objectively measured physical activity level measured by using a validated accelerometry-based activity monitor. RESULTS: Significant Spearman correlation coefficients between the PASIPD and activity monitor outcome measures ranged from .22 to .37. The PASIPD overestimated the duration of physical activity measured by using the activity monitor (mean +/- SD, 3.9+/-2.9 vs 1.5+/-0.9h/d; P<.01). Significant correlation (rho=-.74; P<.01) was found between average number of hours of physical activity per day measured by using the 2 methods and difference in hours between methods. This indicates larger overestimation for persons with higher activity levels. CONCLUSIONS: The PASIPD correlated poorly with objective measurements using an accelerometry-based activity monitor in people with a physical disability. However, similar low correlations between objective and subjective activity measurements have been found in the general population. Users of the PASIPD should be cautious about overestimating physical activity levels.
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- Howe, John A., et al.
(author)
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Dinoflagellate cysts as proxies for palaeoceanographic conditions in Arctic fjords
- 2010
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In: Geological Society, London, Special Publication. - 0305-8719. ; 344, s. 61-74
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Journal article (peer-reviewed)abstract
- The potential of using dinoflagellate cysts as proxies for palaeoceanographic conditions and as monitors of the dynamic marine environment of climatically sensitive Arctic fjords was investigated with sediment traps. Dinoflagellate cysts were analysed from three separate deployments in two high Arctic fjords in the Svalbard archipelago. Two deployments in Kongsfjorden on the west coast of Svalbard occurred during 2002 and 2006–2007 and a deployment in Rijpfjorden on the NE coast occurred during 2006–2007. The cyst production displayed peaks of abundance in the spring and late summer with distinct differences in cyst occurrence in different fjords and in different years. The recorded and identified cyst species were consistent both with the hydrography of the fjords and with changes in cyst composition that are comparable to the seasonal shifts in water mass characteristics. The presence of the heterotrophic species Protoperidinium conicum in Kongsfjorden during 2002 is of note and may reflect the availability of a particular food source possibly associated with the strong influx of Atlantic Water. Cysts recovered from Kongsfjorden during 2006–2007 were dominated by Islandinium minutum, an indicator of cold, polar to subpolar conditions. The temperature and salinity characteristics of the ambient hydrography in this period indicated less influence by Atlantic Water than in 2002, and the cyst production was consistent with regional cyst distribution patterns. In Rijpfjorden, cyst assemblages were dominated by Pentapharsodinium dalei, consistent with the fjord being dominated by full Arctic conditions during the mooring deployment and the possible occurrence of stratified water with high productivity during the spring phytoplankton bloom.
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- Low, Nicola, et al.
(author)
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Chlamydia control activities in Europe : cross-sectional survey
- 2012
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In: European Journal of Public Health. - : Oxford University Press (OUP). - 1101-1262 .- 1464-360X. ; 22:4, s. 556-561
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Journal article (peer-reviewed)abstract
- BACKGROUND: Chlamydia is the most commonly reported bacterial sexually transmitted infection in Europe. The objective of the Screening for Chlamydia in Europe (SCREen) project was to describe current and planned chlamydia control activities in Europe.METHODS: The authors sent a questionnaire asking about different aspects of chlamydia epidemiology and control to public health and clinical experts in each country in 2007. The principles of sexually transmitted infection control were used to develop a typology comprising five categories of chlamydia control activities. Each country was assigned to a category, based on responses to the questionnaire.RESULTS: Experts in 29 of 33 (88%) invited countries responded. Thirteen of 29 countries (45%) had no current chlamydia control activities. Six countries in this group stated that there were plans to introduce chlamydia screening programmes. There were five countries (17%) with case management guidelines only. Three countries (10%) also recommended case finding amongst partners of diagnosed chlamydia cases or people with another sexually transmitted infection. Six countries (21%) further specified groups of asymptomatic people eligible for opportunistic chlamydia testing. Two countries (7%) reported a chlamydia screening programme. There was no consistent association between the per capita gross domestic product of a country and the intensity of chlamydia control activities (P = 0.816).CONCLUSION: A newly developed classification system allowed the breadth of ongoing national chlamydia control activities to be described and categorized. Chlamydia control strategies should ensure that clinical guidelines to optimize chlamydia diagnosis and case management have been implemented before considering the appropriateness of screening programmes.
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| 23. |
- Pinheiro, AP, et al.
(author)
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Association study of 182 candidate genes in anorexia nervosa
- 2010
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In: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. - : Wiley. - 1552-485X. ; 153B:5, s. 1070-1080
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Journal article (peer-reviewed)
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