The impact of population structure on association studies undertaken to identify genetic variants underlying common human diseases is an issue of growing interest. Spurious associations of alleles with disease phenotypes may be obtained or true associations overlooked when allele frequencies differ notably among subpopulations that are not represented equally among cases and controls. Population structure influences even carefully designed studies and can affect the validity of association results. Most study designs address this problem by sampling cases and controls from groups that share the same nationality or self-reported ethnic background, with the implicit assumption that no substructure exists within such groups. We examined population structure in the Icelandic gene pool using extensive genealogical and genetic data. Our results indicate that sampling strategies need to take account of substructure even in a relatively homogenous genetic isolate. This will probably be even more important in larger populations.
Historical inferences from genetic data increasingly depend on assumptions about the genealogical process that shapes the frequencies of alleles over time. Yet little is known about the structure of human genealogies over long periods of time and how they depart from expectations of standard demographic models, such as that attributed to Wright and Fisher. To obtain such information and to examine the recent evolutionary history of mtDNA and Y-chromosome haplotypes in the Icelandic gene pool, we traced the matrilineal and patrilineal ancestry of all 131,060 Icelanders born after 1972 back to two cohorts of ancestors, one born between 1848 and 1892 and the other between 1798 and 1742. This populationwide coalescent analysis of Icelandic genealogies revealed highly positively skewed distributions of descendants to ancestors, with the vast majority of potential ancestors contributing one or no descendants and a minority of ancestors contributing large numbers of descendants. The expansion and loss of matrilines and patrilines has caused considerable fluctuation in the frequencies of mtDNA and Y-chromosome haplotypes, despite a rapid population expansion in Iceland during the past 300 years. Contrary to a widespread assumption, the rate of evolution caused by this lineage-sorting process was markedly faster in matrilines (mtDNA) than in patrilines (Y chromosomes). The primary cause is a 10% shorter matrilineal generation interval. Variance in the number of offspring produced within each generation was not an important differentiating factor. We observed an intergenerational correlation in offspring number and in the length of generation intervals in the matrilineal and patrilineal genealogies, which was stronger in matrilines and thus contributes to their faster evolutionary rate. These findings may have implications for coalescent date estimates based on mtDNA and Y chromosomes.
The partnership-based self-management programme had benefits concerning perception of the intrusiveness of chronic obstructive pulmonary disease and its treatment on lifestyles, activities and interests for young patients with the disease in its early stages. High satisfaction in control group, low family attendance and the relatively short treatment period may explain the less than expected benefits of the programme.
Valid and reliable instruments are needed to measure how family members perceive support from nurses when a family member is experiencing serious illness. The purpose of this article is to describe the development and psychometric testing of a new instrument, the Iceland-Family Perceived Support Questionnaire (ICE-FPSQ). The concepts in the original version of the ICE-FPSQ (suggesting 24 items and 4 categories) were developed from the Calgary Family Intervention Model. In the first phase of the instrument construction, 179 family members answered the original ICE-FPSQ, and 236 answered the questionnaire in the second phase of testing. Principal Component Analysis (PCA) reduced the original questionnaire to 21 items. Cronbach's α = .959 explained 68% of the total variance, with three factors emerging: (a) emotional support (α = .925), (b) recognition of families' strengths (α = .926), and (c) cognitive support (α = .841). Confirmatory Factor Analyses (CFA) resulted in a final version of the questionnaire containing 14 items with total alpha of .961 and two factors: (a) cognitive support (α = .881) and (b) emotional support (α = .952). The instrument measures family's perceptions of support provided by nurses and will be helpful in examining the usefulness of family nursing interventions.
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