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The APP A673T frequency differs between Nordic countries.

ABSTRACT: A coding gene variant A673T (rs63750847) in the APP gene has recently been recognized as a protective variant of late-onset Alzheimer's Disease in a large Icelandic population and has been observed recurrently in populations from Nordic countries. The variant also was related to longevity in the Icelandic population. However, because of the extreme rarity of A673T in non-Nordic populations, the association with Alzheimer's disease has not yet been formally replicated. Because the variant has not been reported among the Danes, we aimed to study its frequency among healthy middle-age twins and oldest-old singletons and explore the possible effects on longevity and cognitive abilities. Surprisingly, only 1 of 3487 unrelated Danes carried the A673T variant, (0.014% [95% CI 0.000-0.080]), which was significantly lower than in the other Nordic countries averaging to 0.43% (95% CI 0.40-0.46). In conclusion, the A673T variant is rarer in Danes than other Nordic countries, thus precluding assessment of association with longevity or cognitive functioning.

SUBMITTER: Mengel-From J

PROVIDER: S-EPMC4562869 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature

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The APP A673T frequency differs between Nordic countries.

Mengel-From Jonas J Jeune Bernard B Pentti Tienari T McGue Matt M Christensen Kaare K Christiansen Lene L

Neurobiology of aging 20150711 10

A coding gene variant A673T (rs63750847) in the APP gene has recently been recognized as a protective variant of late-onset Alzheimer's Disease in a large Icelandic population and has been observed recurrently in populations from Nordic countries. The variant also was related to longevity in the Icelandic population. However, because of the extreme rarity of A673T in non-Nordic populations, the association with Alzheimer's disease has not yet been formally replicated. Because the variant has not ...[more]

PMID: 26239177

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Project description:ImportanceRecently, a rare variant in the amyloid precursor protein gene (APP) was described in a population from Iceland. This variant, in which alanine is replaced by threonine at position 673 (A673T), appears to protect against late-onset Alzheimer disease (AD). We evaluated the frequency of this variant in AD cases and cognitively normal controls to determine whether this variant will significantly contribute to risk assessment in individuals in the United States.ObjectiveTo determine the frequency of the APP A673T variant in a large group of elderly cognitively normal controls and AD cases from the United States and in 2 case-control cohorts from Sweden.Design, setting, and participantsCase-control association analysis of variant APP A673T in US and Swedish white individuals comparing AD cases with cognitively intact elderly controls. Participants were ascertained at multiple university-associated medical centers and clinics across the United States and Sweden by study-specific sampling methods. They were from case-control studies, community-based prospective cohort studies, and studies that ascertained multiplex families from multiple sources.Main outcomes and measuresGenotypes for the APP A673T variant were determined using the Infinium HumanExome V1 Beadchip (Illumina, Inc) and by TaqMan genotyping (Life Technologies).ResultsThe A673T variant genotypes were evaluated in 8943 US AD cases, 10 480 US cognitively normal controls, 862 Swedish AD cases, and 707 Swedish cognitively normal controls. We identified 3 US individuals heterozygous for A673T, including 1 AD case (age at onset, 89 years) and 2 controls (age at last examination, 82 and 77 years). The remaining US samples were homozygous for the alanine (A673) allele. In the Swedish samples, 3 controls were heterozygous for A673T and all AD cases were homozygous for the A673 allele. We also genotyped a US family previously reported to harbor the A673T variant and found a mother-daughter pair, both cognitively normal at ages 72 and 84 years, respectively, who were both heterozygous for A673T; however, all individuals with AD in the family were homozygous for A673.Conclusions and relevanceThe A673T variant is extremely rare in US cohorts and does not play a substantial role in risk for AD in this population. This variant may be primarily restricted to Icelandic and Scandinavian populations.

Project description:BackgroundSuicide is a major public health issue among Indigenous Sámi in Nordic countries, and efforts to prevent suicide in the Sámi context are increasing. However, there is no literature on suicide prevention initiatives among Sámi. The aim of the study was to map suicide prevention initiatives targeting Sámi in Norway, Sweden, and Finland during 2005-2019.MethodInitiatives were identified and described through utilizing networks among stakeholders in the field of suicide prevention among Sámi, acquiring documentation of initiatives and utilizing the authors first-hand experiences. The described initiatives were analyzed inspired by the "What is the problem represented to be?" (WPR)-approach.ResultsSeventeen initiatives targeting Sámi were identified during 2005-2019, including nine in Sweden, five in Norway, one in Finland and two international initiatives. Analysis with the WPR-approach yielded 40 problematizations regarding how to prevent suicide among Sámi, pertaining to shortcomings on individual (5), relational (15), community/cultural (3), societal (14) and health systems levels (3). All initiatives were adapted to the Sámi context, varying from tailor-made, culture-specific approaches to targeting Sámi with universal approaches. The most common approaches were the gatekeeper and mental health literacy training programs. The initiatives generally lacked thorough evaluation components.ConclusionWe argue that the dominant rationales for suicide prevention were addressing shortcomings on individual and relational levels, and raising awareness in the general public. This threatens obscuring other, critical, approaches, such as broadening perspectives in prevention planning, improving health systems for Sámi, and promoting cultural empowerment among Sámi. Nevertheless, the study confirms considerable efforts have been invested into suicide prevention among Sámi during the last 15 years, and future initiatives might include a broader set of prevention rationales. To improve evaluation and identify the most promising practices, increased support regarding development of plans and implementation of evaluation components is needed.

Project description:Reports of inverse associations between breakfast frequency and indices of obesity are predominantly based on samples of children from high-income countries with limited socioeconomic diversity. Using data from the International Study of Childhood Obesity, Lifestyle and the Environment (ISCOLE), the present study examined associations between breakfast frequency and adiposity in a sample of 9-11-year-old children from 12 countries representing a wide range of geographic and socio-cultural variability.Multilevel statistical models were used to examine associations between breakfast frequency (independent variable) and adiposity indicators (dependent variables: body mass index (BMI) z-score and body fat percentage (BF%)), adjusting for age, sex, and parental education in 6941 children from 12 ISCOLE study sites. Associations were also adjusted for moderate-to-vigorous physical activity, healthy and unhealthy dietary patterns and sleep time in a sub-sample (n=5710). Where interactions with site were significant, results were stratified by site.Adjusted mean BMI z-score and BF% for frequent breakfast consumers were 0.45 and 20.5%, respectively. Frequent breakfast consumption was associated with lower BMI z-scores compared with occasional (P<0.0001, 95% confidence intervals (CI): 0.10-0.29) and rare (P<0.0001, 95% CI: 0.18-0.46) consumption, as well as lower BF% compared with occasional (P<0.0001, 95% CI: 0.86-1.99) and rare (P<0.0001, 95% CI: 1.07-2.76). Associations with BMI z-score varied by site (breakfast by site interaction; P=0.033): associations were non-significant in three sites (Australia, Finland and Kenya), and occasional (not rare) consumption was associated with higher BMI z-scores compared with frequent consumption in three sites (Canada, Portugal and South Africa). Sub-sample analyses adjusting for additional covariates showed similar associations between breakfast and adiposity indicators, but lacked site interactions.In a multinational sample of children, more frequent breakfast consumption was associated with lower BMI z-scores and BF% compared with occasional and rare consumption. Associations were not consistent across all 12 countries. Further research is required to understand global differences in the observed associations.

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The APP A673T frequency differs between Nordic countries.

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The APP A673T frequency differs between Nordic countries.

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