4 resultados para 302-M0004A

em Helda - Digital Repository of University of Helsinki


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Human growth and attained height are determined by a combination of genetic and environmental effects and in modern Western societies > 80% of the observed variation in height is determined by genetic factors. Height is a fundamental human trait that is associated with many socioeconomic and psychosocial factors and health measures, however little is known of the identity of the specific genes that influence height variation in the general population. This thesis work aimed to identify the genetic variants that influence height in the general population by genome-wide linkage analysis utilizing large family samples. The study focused on analysis of three separate sets of families consisting of: 1) 1,417 individuals from 277 Finnish families (FinnHeight), 2) 8,450 individuals from 3,817 families from Australia and Europe (EUHeight) and 3) 9,306 individuals from 3,302 families from the United States (USHeight). The most significant finding in this study was found in the Finnish family sample where we a locus in the chromosomal region 1p21 was linked to adult height. Several regions showed evidence for linkage in the Australian, European and US families with 8q21 and 15q25 being the most significant. The region on 1p21 was followed up with further studies and we were able to show that the collagen 11-alpha-1 gene (COL11A1) residing at this location was associated with adult height. This association was also confirmed in an independent Finnish population cohort (Health 2000) consisting of 6,542 individuals. From this population sample, we estimated that homozygous males and females for this gene variant were 1.1 and 0.6 cm taller than the respective controls. In this thesis work we identified a gene variant in the COL11A1 gene that influences human height, although this variant alone explains only 0.1% of height variation in the Finnish population. We also demonstrated in this study that special stratification strategies such as performing sex-limited analyses, focusing on dizygous twin pairs, analyzing ethnic groups within a population separately and utilizing homogenous populations such as the Finns can improve the statistical power of finding QTL significantly. Also, we concluded from the results of this study that even though genetic effects explain a great proportion of height variance, it is likely that there are tens or even hundreds of genes with small individual effects underlying the genetic architecture of height.

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The Church in one s heart. The formation of religion and individuation in the lives of Ingrian Finns in the 20th century. Sinikka Haapaniemi University of Helsinki, Finland 302 pages The study falls within the sphere of religious views and the problematique of the life trajectory. The target group comprises those Finnish speakers (Ingrian Finns, Ingrians) living in what was historically Ingermanland and who in varying circumstances became scattered. These times were characterized by pressures for change due to societal reasons and reasons of war. In conditions of change external living conditions matters of religious conviction may assume new meaning and form. The examination focuses on sustaining personal faith in difficult life situations and on how crises affected religious views. Another level of scrutiny takes shape through the terminology of the analytic psychology of C.G. Jung. Individuation is deemed to occur as a cumulative process through the stages of life. The basic data for the study comprises interviews with twenty (20) natives of Ingria and their biographical narratives written in standard language. Many biographical accounts and memoirs serve as secondary data. The interviewees, who were largely selected at random, recounted their lives without questions formulated in advance. The study falls within the field of comparative religion and adheres to the principles of qualitative research practice and the case-study method. Effort was made to get to know each interviewee in the situation which his/her narrative presents. The aim is to pay attention to the interpretations given by the narrators of their various experiences and to understand their meanings on a personal level. The years during which the Ingrians were scattered, wandering and returning raise problems of survival. An individual s own initiative assumes individual forms and emphases. Religion was part of the narrators lives as one factor in the quality of life. Their religious thinking was influenced by both their home upbringing and the teaching of the Church. The interviewees took a serious attitude to the informative teaching of confirmation training. When there was no longer a church, it was claimed that the church travelled with them. Changed circumstances tested the validity of the teachings. The message of the Church institution persisted and helped them to preserve their traditions. A striving for unity and for the presence of a community emerged both in the form of ritual behaviour and in a predilection to sociability. Gradually, as they returned, the activity of the Church of Ingria began to revive. At the turn of the millennium the network of parishes was extensive and cultural activity flourished wherever the Ingrians settled in the postwar decades. Religion is part of the process of individuation. Examination of religion and individuation shows that religion remained an individual view, whose factual base was formed by Christianity and the tradition of the Church. Home upbringing served to orientate, but not to bind. With ageing the importance of independent thought is emphasized, for example in relation to confession, it did not pose a threat to individuality. Keywords: Life story, Religiosity, individuation, Ingrian, the Church of Ingria

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XVIII IUFRO World Congress, Ljubljana 1986.