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- Zhang, G., et al.
(författare)
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Genetic Associations with Gestational Duration and Spontaneous Preterm Birth
- 2017
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Ingår i: New England Journal of Medicine. - 0028-4793. ; 377:12, s. 1156-1167
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND Despite evidence that genetic factors contribute to the duration of gestation and the risk of preterm birth, robust associations with genetic variants have not been identified. We used large data sets that included the gestational duration to determine possible genetic associations. We performed a genomewide association study in a discovery set of samples obtained from 43,568 women of European ancestry using gestational duration as a continuous trait and term or preterm (< 37 weeks) birth as a dichotomous outcome. We used samples from three Nordic data sets (involving a total of 8643 women) to test for replication of genomic loci that had significant genomewide association (P< 5.0x10(-8)) or an association with suggestive significance (P< 1.0x10(-6)) in the discovery set. In the discovery and replication data sets, four loci (EBF1, EEFSEC, AGTR2, and WNT4) were significantly associated with gestational duration. Functional analysis showed that an implicated variant in WNT4 alters the binding of the estrogen receptor. The association between variants in ADCY5 and RAP2C and gestational duration had suggestive significance in the discovery set and significant evidence of association in the replication sets; these variants also showed genomewide significance in a joint analysis. Common variants in EBF1, EEFSEC, and AGTR2 showed association with preterm birth with genomewide significance. An analysis of mother-infant dyads suggested that these variants act at the level of the maternal genome. In this genomewide association study, we found that variants at the EBF1, EEFSEC, AGTR2, WNT4, ADCY5, and RAP2C loci were associated with gestational duration and variants at the EBF1, EEFSEC, and AGTR2 loci with preterm birth. Previously established roles of these genes in uterine development, maternal nutrition, and vascular control support their mechanistic involvement.
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- Barkardottir, Rosa B, et al.
(författare)
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Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families
- 2001
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 9:10, s. 773-779
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Tidskriftsartikel (refereegranskat)abstract
- The 999del5 mutation is the single, strong BRCA2 founder mutation in Iceland and the most common BRCA1/2 founder mutation in Finland. To evaluate the origin and time since spreading of the 999del5 mutation in Iceland and in Finland, we constructed haplotypes with polymorphic markers within and flanking the BRCA2 gene in a set of 18 Icelandic and 10 Finnish 999del5 breast cancer families. All Icelandic families analysed shared a common core haplotype of about 1.7 cM. The common ancestors for the Icelandic families studied were estimated to trace back to 340-1000 years, not excluding the possibility that the mutation was brought to Iceland during the settlement of the country. Analysis of the Finnish families revealed two distinct haplotypes. A rare one, found in three families in the old settlement region in southwestern Finland, shared a four-marker (0.5 cM) core haplotype with the Icelandic 999del5 haplotype. A distinct approximately 6 cM haplotype was shared by seven 999del5 Finnish families estimated to have a common ancestry 140-300 years ago. These families cluster in two geographical regions in Finland, in the very same area as those with the rare haplotype and also in the most eastern, late settlement region of Finland. The results may indicate a common ancient origin for the 999del5 mutation in Iceland and in Finland, but distinct mutational events cannot be ruled out. The surprising finding of the same mutation in two completely different haplotypes in a sparsely populated area in Finland may suggest gene conversion.
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- Messi, F., et al.
(författare)
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The neutron-tagging facility at Lund University
- 2020
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Ingår i: Modern Neutron Detection : Proceedings of a Technical Meeting - Proceedings of a Technical Meeting. - 1011-4289. - 9789201265203 - 9789201266200 ; :1935, s. 287-297
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Over the last decades, the field of thermal neutron detection has overwhelmingly employed He-3-based technologies. The He-3 crisis together with the forthcoming establishment of the European Spallation Source have necessitated the development of new technologies for neutron detection. Today, several promising He-3-free candidates are under detailed study and need to be validated. This validation process is in general long and expensive. The study of detector prototypes using neutron-emitting radioactive sources is a cost-effective solution, especially for preliminary investigations. That said, neutron-emitting sources have the general disadvantage of broad, structured, emitted-neutron energy ranges. Further, the emitted neutrons often compete with unwanted backgrounds of gamma-rays, alpha-particles, and fission-fragments. By blending experimental infrastructure such as shielding to provide particle beams with neutron-detection techniques such as tagging, disadvantages may be converted into advantages. In particular, a technique known as tagging involves exploiting the mixed-field generally associated with a neutron-emitting source to determine neutron time-of-flight and thus energy on an event-by-event basis. This allows for the definition of low-cost, precision neutron beams. The Source-Testing Facility, located at Lund University in Sweden and operated by the SONNIG Group of the Division of Nuclear Physics, was developed for just such low-cost studies. Precision tagged-neutron beams derived from radioactive sources are available around-the-clock for advanced detector diagnostic studies. Neutron measurements performed at the Source Testing Facility are thus cost-effective and have a very low barrier for entry. In this paper, we present an overview of the project.
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