This study aimed at contributing to the elucidation of the genetic basis of age-related hearing impairment (ARHI), a common multifactorial disease with an important genetic contribution as demonstrated by heritability studies. We conducted a genomewide association study (GWAS) in the Finnish Saami, a small, ancient, genetically isolated population without evidence of demographic expansion. The choice of this study population was motivated by its anticipated higher extent of LD, potentially offering a substantial power advantage for association mapping. DNA samples and audiometric measurements were collected from 352 Finnish Saami individuals, aged between 50 and 75 years. To reduce the burden of multiple testing, we applied principal component (PC) analysis to the multivariate audiometric phenotype. The first three PCs captured 80% of the variation in hearing thresholds, while maintaining biologically important audiometric features. All subjects were genotyped with the Affymetrix 100 K chip. To account for multiple levels of relatedness among subjects, as well as for population stratification, association testing was performed using a mixed model. We summarised the top-ranking association signals for the three traits under study. The top-ranked SNP, rs457717 (P-value 3.55Â10 À7 ), was associated with PC3 and was localised in an intron of the IQ motif-containing GTPase-activating-like protein (IQGAP2). Intriguingly, the SNP rs161927 (P-value 0.000149), seventhranked for PC1, was positioned immediately downstream from the metabotropic glutamate receptor-7 gene (GRM7). As a previous GWAS of a European and Finnish sample set already suggested a role for GRM7 in ARHI, this study provides further evidence for the involvement of this gene.
Calf losses are an acute issue in Fennoscandian reindeer Rangifer t. tarandus management. We studied calf mortality in northeastern Finnish Lapland using 621 calves (304 in 1997 and 317 in 1998) marked with silent mortality transmitters and followed their survival during
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The understanding of patterns of genetic variation within and among human populations is a prerequisite for successful genetic association mapping studies of complex diseases and traits. Some populations are more favorable for association mapping studies than others. The Saami from northern Scandinavia and the Kola Peninsula represent a population isolate that, among European populations, has been less extensively sampled, despite some early interest for association mapping studies. In this paper, we report the results of a first genome-wide SNP-based study of genetic population structure in the Finnish Saami. Using data from the HapMap and the human genome diversity project (HGDP-CEPH) and recently developed statistical methods, we studied individual genetic ancestry. We quantified genetic differentiation between the Saami population and the HGDP-CEPH populations by calculating pair-wise F(ST) statistics and by characterizing identity-by-state sharing for pair-wise population comparisons. This study affirms an east Asian contribution to the predominantly European-derived Saami gene pool. Using model-based individual ancestry analysis, the median estimated percentage of the genome with east Asian ancestry was 6% (first and third quartiles: 5 and 8%, respectively). We found that genetic similarity between population pairs roughly correlated with geographic distance. Among the European HGDP-CEPH populations, F(ST) was smallest for the comparison with the Russians (F(ST)=0.0098), and estimates for the other population comparisons ranged from 0.0129 to 0.0263. Our analysis also revealed fine-scale substructure within the Finnish Saami and warns against the confounding effects of both hidden population structure and undocumented relatedness in genetic association studies of isolated populations.
In the 1970s, mean lichen biomass ranged by the earmark districts (comprising of 2-9 adjacent herding associations) between 54 kg and 380 kg DM per ha correlating negatively with animal density per lichen ranges (range 1.5-14.3 ind. per km 2). Biomasses were far below economic carrying capacity of lichen ranges (900 kg DM per ha). The condition of lichen ranges was poorest in the southern half of the area where alternative food to reindeer lichens (Deschampsia flexuosa, arboreal lichens and supplementary feeding) was available. In 1980-86, recruitment (calves per 100 females) was 33% higher than in the 1970's, on an average (65 vs. 49), despite a 90% increase in animal numbers between 1970 and 1986; recruitment has not been dependent on the condition of lichen ranges. The increase in production has been some higher than expected on the basis of animal numbers. The reasons for the increasing trends in animal numbers , recruitment and production remains some unclear, but they may include favorable winter conditions, supplementary feeding, medical treatment against parasites and proper harvesting policy.
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