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Reports on PhD theses




Defender: Ms Veronika Cernanova, RNDr (Rerum Naturalium Doctor)
Title of PhD dissertation: The analysis of polymorphisms in the genes associated with menopausal status in healthy Slovak women.
Affiliation: Comenius University in Bratislava, Faculty of Natural Sciences, Department of Anthropology
Supervisor: Prof. Daniela Sivakova
Date of PhD defence: 27.08. 2015

The polymorphisms of CYP1B1 and COMT genes influence the catalytic properties of enzymes involved in the metabolism of oestrogens and via that way they alter steroid hormone levels. All estrogenic-sensitive tissues react on the changes in the oestrogen concentration; consequently, this affects the occurrence of menopausal symptoms.
The aim of this dissertation was to examine if polymorphisms in the oestrogen-metabolizing genes CYP1B1 (Arg48Gly, Ala119Ser, Leu432Val, Asn453Ser) and COMT (Val158Met) have an impact on the occurrence and intensity of the menopausal symptoms in the Slovak sample of 40-60 years old women, and also to investigate possible influence of other factors (health status, smoking, physical activity, reproductive history, psychical status) contributing to development of symptoms connected with menopausal period. The studied sample consisted of 368 women (49.11±5.86); 180 premenopausal (45.06±3.81), 29 perimenopause (49.41±3.94) and 158 postmenopausal (53.71±4.54) women, respectively. The CYP1B1 Arg48Gly was associated with hot flushes (p=0,020), feeling of bloating (p=0.005), palpitation and nervousness (p=0.018), loss of appetite (p=0.040), feeling of tiredness and exhaustion (p=0.026), lack of energy (p=0.009), decrease in physical strength (p=0.036) and loss of vitality (p=0.043). The tree analysis and logistic regression suggested the protective influence of Gly/Gly genotype against the vasomotor and somatic symptoms in the pre- and perimenopause and a risk of this genotype during the postmenopausal period. The analysis also showed the risk of Arg/Arg genotype for psychological symptoms. The CYP1B1 Ala119Ser was connected with feeling of bloating (p=0.014), palpitation and nervousness (p=0.006), involuntary urination while laughing and coughing (p=0.020), feeling of depression (p=0.048), feeling of tiredness and exhaustion (p=0.011), lack of energy (p=0.028) and loss of vitality (p=0.005). The statistical analysis showed a possible protection of Ser/Ser genotype towards the vasomotor and somatic symptoms in perimenopause and towards psychological symptoms in postmenopausal, and a risk of this genotype in occurrence of the vasomotor symptoms in premenopausal women, respectively. The CYP1B1 Leu432Val was associated with bloating (p=0.045), palpitation and nervousness (p=0.002), unusual irritation (p=0.018) and intolerance of others (p=0.032). The tree analysis and logistic regression indicated the risk of Leu/Leu genotype for the vasomotor, urogenital and psychological symptoms independent of menopausal status. The CYP1B1 Asn453Ser was connected with intolerance of other persons (p=0.001), need to be alone (p=0.014) and feeling unattractive (p=0.032). The statistical analysis confirms the protection of the Asn/Asn genotype towards the psychological symptoms. The COMT Val158Met was associated with feeling of bloating (p=0.034), lack of enjoyment (p=0.027), feeling of depression (p=0.038), need to be alone (p=0.029), feeling of fear and panic (p=0.043), intolerance of other persons (p=0.002), anxiety when leaving home (p=0.033), feeling of tiredness and exhaustion (p=0.044) and decrease in physical strength (p=0.039). Tree analysis and logistic regression proved the protective influence of Met/Met towards the occurrence of the psychological symptoms in pre- and postmenopause and a risk of this genotype in perimenopause period.



Defender: Ms Natalia Nowak-Szczepanska
Title of PhD dissertation: Dimorphic changes in body length proportions during adolescence with respect to biological age
Affiliation: Polish Academy of Sciences, Unit of Anthropology in Wroclaw, Poland
Supervisor: Assoc. Prof. Slawomir Koziel
Date of PhD defence: 11.05.2015

The aim of the study was qualitative and quantitative assessment of changes in sexual dimorphism in body length proportions during adolescence with respect to biological age. Data were collected during Wroclaw Growth Study. Analyses of body length proportions involved ca. 120 boys and ca. 120 girls aged 8-18 years. Biological age was defined by the age of peak height velocity (APHV; Preece-Baines Model 1). Analysis of body length proportions was conducted in relation to height and trunk length, separately for lower (lower limbs and their parts) and upper (upper limbs, their parts, trunk, sitting height) body segment, in both sexes during adolescence with regard to biological age. Mollison's sexual dimorphism indexes were assessed for each body length proportion in subsequent categories of biological age. Due to a longitudinal character of this study repeated measures analysis of variance was used for the assessment of changes in body length proportions with respect to biological age in both sexes. Aforementioned analyses revealed rather moderate level of sexual dimorphism in length proportions of lower-body segment, usually in favour of boys relatively to height, but not in all biological age categories. Nevertheless, for upper-body segment the majority of body length proportions' indexes showed significantly higher values in girls (except for relative trunk length in favour of boys), particularly beginning with APHV. Moreover, changes in body length proportions in both lower and upper limbs as well as in sitting height and trunk length significantly reflected growth trajectory of more intense long bones' growth before APHV and acceleration of the spine development after APHV. The results of this study considerably fill the gap in the area of changes in sexual dimorphism in body length proportions during adolescence in relation to individual growth trajectory with respect to biological age in boys and girls

Mr Santiago Rodriguez Lopez
Title of PhD dissertation: Biosocial determinants of healthy ageing in Spain
Affiliation: Universidad Autonoma de Madrid, Madrid, Spain
Supervisor: Prof. Pilar Montero Lopez
Date of PhD defence: 2014

This dissertation explores biological (physical) and social characteristics associated with health later in life, integrating gender/sex considerations and a life course perspective. We use data from 50-years-old and older Spanish and other European adults from two different sources: the Active Ageing Longitudinal Study "Estudio Longitudinal de Envejecimiento Activo" (ELEA) in Spain, and the Survey of Health, Ageing and Retirement in Europe (SHARE). This study includes cross-sectional and longitudinal (both prospective and retrospective) designs and embraces a broad set of variables such as demographic characteristics, socioeconomic and health indicators, early health and socioeconomic conditions, etc.
Results are presented in five original papers. Cross-sectionally, we found that, compared to men, part of the overall poorer health among women was surely determined by a gender effect and may have had an early origin, probably related to traditional gender roles established early in life. Additionally, we found marked socioeconomic gradients in health and mobility indicators like frailty and balance performance. Health behaviours like physical activity and obesity seemed to play a similar and small role in explaining the link between socioeconomic status and frailty and balance in older adults. Longitudinally, in a prospective study of the predictors of disability for two years, we found that a decline in function was associated with an increased number of chronic diseases and symptoms of depression among Spanish men, whereas among women it was associated with decreased cognitive performance. Finally, in a retrospective study with a life course approach, we found a direct association between childhood and adult health among older Europeans, whereas the impact of the socioeconomic status in childhood was more indirect and operated through the own socioeconomic status in adulthood. This suggests that in order to improve adult health, efforts can be made in ameliorating child health. Moreover, poor childhood health was a stronger predictor of adult health - having more negative effect - in Northern compared to other European countries. This finding may be useful for planning interventions based on country-specific evidence, and contributes to the understanding of the mechanisms underneath the health dynamics over the life course.
The results of this study add to the evidence of the importance of including a multidisciplinary and life course perspective when evaluating health and well-being in later life. They might also contribute to enhance health and reduce health inequalities by suggesting effective interventions meant to improve the quality of life of older adults.



Defender: Ms Alaitz Poveda
Title of PhD dissertation: Genetic and Environmental Contributions to Obesity in Roma Population
Affiliation: University of the Basque Country (UPV/EHU), Bilbao, Spain
Supervisor: Prof. Esther Rebato
Date of PhD defence: 24.01.2013

This PhD work was supported by grants of the Bilbao Bizkaia Kutxa, of the Spanish Ministry of Science and Innovation, of the Industry Department of the Basque Government and by a predoctoral grant of the Ministry of Education of Spain. The most relevant findings of this study have provided evidence that studied Roma population presents one of the highest rates of overweight and obesity worldwide which could be partly related to the generalized underestimation of their actual body size seen among Roma men and women. Concerning the relationship between adiposity and blood pressure measurements in Roma population, although these phenotypes do not seem to share a substantial common genetic background, shared environmental factors significantly affect the covariation between them. Waist circumference was the obesity-related trait most genetically correlated with blood pressure traits which highlight the importance of this measurement on the determination of the risk of obesity-related diseases. The results obtained in this research have concluded that lifestyle and socioeconomic factors have a slight but significant influence on obesity-related traits, somatotype components and blood pressure phenotypes. Finally, family-based association tests revealed that SNPs in or near six genes (NEGR1, SH2B1, BDNF, MC4R, KCTD15 and FAIM2) were significantly associated with body morphology and obesity-related traits in Roma people.
The tribunal of the thesis was composed by Dr. Rosario Calderon (President, Universidad Complutense de Madrid), Dr. Daniel Turbón (Universitat de Barcelona), Dr. Luis Casis (UPV/EHU), Dr. Karri Silventoinen (University of Helsinki) and Dr. Ana Maria Rocandio (Secretary, UPV/EHU).




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