| 1. |
- Jonsson, Lina, 1982, et al.
(författare)
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Rare and Common Variants Conferring Risk of Tooth Agenesis
- 2018
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Ingår i: Journal of Dental Research. - : SAGE Publications. - 0022-0345 .- 1544-0591. ; 97:5, s. 515-522
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Tidskriftsartikel (refereegranskat)abstract
- We present association results from a large genome-wide association study of tooth agenesis (TA) as well as selective TA, including 1,944 subjects with congenitally missing teeth, excluding third molars, and 338,554 controls, all of European ancestry. We also tested the association of previously identified risk variants, for timing of tooth eruption and orofacial clefts, with TA. We report associations between TA and 9 novel risk variants. Five of these variants associate with selective TA, including a variant conferring risk of orofacial clefts. These results contribute to a deeper understanding of the genetic architecture of tooth development and disease. The few variants previously associated with TA were uncovered through candidate gene studies guided by mouse knockouts. Knowing the etiology and clinical features of TA is important for planning oral rehabilitation that often involves an interdisciplinary approach.
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| 2. |
- Halvarsson, A, et al.
(författare)
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Long-term effects of a progressive and specific balance-training programme with multi-task exercises for older adults with osteoporosis: a randomized controlled study
- 2016
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Ingår i: Clinical rehabilitation. - : SAGE Publications. - 1477-0873 .- 0269-2155. ; 30:11, s. 1049-1059
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Tidskriftsartikel (refereegranskat)abstract
- To evaluate long-term effects of balance-training on concerns about falling, gait, balance performance, and physical function in older adults with osteoporosis and increased risk of falling. Design: Randomized controlled trial, including three groups (training, training+physical activity, and control group), with follow-ups at three, nine, and 15 months. Short-term, three-month follow-up, benefits for those who fulfilled the first follow-up ( n = 69) have previously been reported. Setting: Stockholm, Sweden. Participants: A total of 96 elderly, age 66–87, with verified osteoporosis. Interventions: Balance-training programme including dual- and multitasks, with or without supplementary physical activity, three times/week over 12 weeks. Measurements: Concerns about falling Falls Efficacy Scale -International (FES-I), walking at preferred speed with and without a cognitive dual-task and at fast speed, balance tests (one-leg stance and modified figure-of-eight), and physical function Late-Life Function and Disability Instrument (LLFDI). Results: Participants in the training group maintained positive effects throughout the study period for concerns about falling (baseline vs. 15 months, median 27.5 vs. 23 points, p < 0.001) and walking performance (baseline vs. 15 months, p ⩽ 0.05 with an improvement of 0.9–1.4 m/s). The Training+physical activity group declined to baseline values at the nine-month follow-up, and were even lower at the 15-month follow-up for concerns about falling (median 26 vs. 26 points), walking performance (changes of −0.02 to 0.04 m/s), and physical function (mean 44.0 vs. 42.9 points). The control group remained unchanged throughout the study period. Conclusions: This balance-training programme reduced concerns about falling, and also improved gait in older adults with osteoporosis and increased risk of falling in a long-term perspective – important issues for fall prevention.
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| 4. |
- Jonsson, Stefan, et al.
(författare)
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Identification of sequence variants influencing immunoglobulin levels
- 2017
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 49:8, s. 1182-1191
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Tidskriftsartikel (refereegranskat)abstract
- Immunoglobulins are the effector molecules of the adaptive humoral immune system. In a genome-wide association study of 19,219 individuals, we found 38 new variants and replicated 5 known variants associating with IgA, IgG or IgM levels or with composite immunoglobulin traits, accounted for by 32 loci. Variants at these loci also affect the risk of autoimmune diseases and blood malignancies and influence blood cell development. Notable associations include a rare variant at RUNX3 decreasing IgA levels by shifting isoform proportions (rs188468174[C>T]: P = 8.3 × 10(-55), β = -0.90 s.d.), a rare in-frame deletion in FCGR2B abolishing IgG binding to the encoded receptor (p.Asn106del: P = 4.2 × 10(-8), β = 1.03 s.d.), four IGH locus variants influencing class switching, and ten new associations with the HLA region. Our results provide new insight into the regulation of humoral immunity.
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