GENETIC EFFECTS ON HEIGHT
Although variance in human height is largely due to genetic traits, the effect of individual genes is very small. This was shown in the doctoral dissertation of Sampo Sammalisto, who defended his thesis at the University of Helsinki. The thesis shows evidence for a new gene locus that affects human height.
Human growth and attained height are determined by a combination of genetic and environmental effects. Height is a fundamental human trait, and it has been estimated that in modern Western societies more than 80 percent of the observed variation in height is determined by genetic factors. Adult height is associated with many diseases as well as socioeconomic and psychosocial factors and health indicators, but little is known of the identity of the specific genes that influence height variation in the general population.
The aim of the thesis work of Sampo Sammalisto, was to identify the genetic variants that influence height in the general population by genome-wide linkage analysis utilizing large family samples. Furthermore, association analysis was used to investigate linked regions of chromosomes and identify the gene loci that cause variance in human stature. CSC’s computing resources were utilized in this research.
The thesis comprised three separate analyses of large family cohorts consisting of: 1) 1,417 individuals from 277 Finnish families (FinnHeight), 2) 8,450 individuals from 3,817 families containing twin pairs from Australia, Denmark, Finland, Sweden, and the UK (EUHeight) and 3) 9,306 individuals from 3,302 families from the United States (USHeight). The research was conducted at the Department of Molecular Medicine of the National Public Health Institute, in the research group directed by Docent Markus Perola and Professor Leena Palotie.
The most important result from this study was establishing statistically significant evidence for a locus in the chromosomal region 1p21 linked to adult height. Additionally, several other chromosomal regions showed some evidence for linkage to height. Further follow-up studies in the region of 1p21 showed that the collagen 11-alpha-1 gene (COL11A1) residing in the region was associated with adult height. This association was also confirmed in an independent Finnish population cohort (Health 2000) consisting of 6,542 individuals, which showed that homozygous males and females with this gene variant were 1.1 and 0.6 cm taller than the respective controls.
- In this thesis work we identified a variant of the COL11A1 gene that explains 0.1% of height variation in the Finnish population, says Sammalisto.
The aim of the thesis work of Sampo Sammalisto, was to identify the genetic variants that influence height in the general population by genome-wide linkage analysis utilizing large family samples. Furthermore, association analysis was used to investigate linked regions of chromosomes and identify the gene loci that cause variance in human stature. CSC’s computing resources were utilized in this research.
The thesis comprised three separate analyses of large family cohorts consisting of: 1) 1,417 individuals from 277 Finnish families (FinnHeight), 2) 8,450 individuals from 3,817 families containing twin pairs from Australia, Denmark, Finland, Sweden, and the UK (EUHeight) and 3) 9,306 individuals from 3,302 families from the United States (USHeight). The research was conducted at the Department of Molecular Medicine of the National Public Health Institute, in the research group directed by Docent Markus Perola and Professor Leena Palotie.
The most important result from this study was establishing statistically significant evidence for a locus in the chromosomal region 1p21 linked to adult height. Additionally, several other chromosomal regions showed some evidence for linkage to height. Further follow-up studies in the region of 1p21 showed that the collagen 11-alpha-1 gene (COL11A1) residing in the region was associated with adult height. This association was also confirmed in an independent Finnish population cohort (Health 2000) consisting of 6,542 individuals, which showed that homozygous males and females with this gene variant were 1.1 and 0.6 cm taller than the respective controls.
- In this thesis work we identified a variant of the COL11A1 gene that explains 0.1% of height variation in the Finnish population, says Sammalisto.
- The results also indicate that even though genetic effects explain a major proportion of height variance, it is likely that there is a vast number of such genes, although each individual gene causing only an infinitesimal effect on the human height.
Sampo Sammalisto’s doctoral thesis "Search for genetic variants influencing human height" was published in the Publications of the National Public Health Institute, Series A; and in the Biomedical Dissertations series of the University of Helsinki. The thesis is available for public viewing at the E-thesis service of the University of Helsinki.
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