Motoo Kimura (1924–1994)
Krishna Dronamraju in A Century of Geneticists, 2018
Kimura’s talent in manipulating the Kolmogorov equations and applying them to significant evolutionary problems was outstanding. Here are a few of Kimura’s significant findings. I have already mentioned the “stepping stone” model of population structure, which has been the starting point for investigations by many authors. He discovered the phenomenon of “quasi-linkage equilibrium.” He showed that with loose linkage, the population generates just enough linkage disequilibrium to cancel the epistatic variance, so that the additive variance, without epistatic terms, is the best predictor of change under selection. He analyzed a case of meiotic drive in Lilium. He investigated genetic load and wrote a review in 1961. In one study, he showed that the mutation load can be reduced with epistasis, but only when there is sexual reproduction. He was also the first to consider the mutation and segregation loads in finite populations. His first calculations, done when computers were primitive, involved some very inventive, and to some critics dubious, approximations. Later computer work has vindicated them.
Community and environment as determinants of health
Ben Y.F. Fong, Martin C.S. Wong in The Routledge Handbook of Public Health and the Community, 2021
People share a common goal of healthy longevity. Determinants of health are the factors which affect the health status of an individual, a family or a population. These factors could be individual factors such as genetic predisposition and risky health behaviours; contact between people in the same community, or interactions between human, other animal species and our environment. Governments, scientists and health care professionals are trying to identify, stratify and modify different health risks in the communities and environments. This chapter will introduce how we can understand health among population structure inside a community. We will then discuss how environmental factors affect human health. Finally, we will describe the “One Health” approach to investigate the interconnection between human, animal and the environment, as it could possibly provide a solution for mitigating global health risks through interdisciplinary collaboration. We will also examine the practicability of adoption of “One Health”.
Principles and theories
Emily Ying Yang Chan in Disaster Public Health and Older People, 2019
Age structure and disease patterns can be tracked and studied though demography and epidemiology. Demography is the study of population structure that may be affected by changes in births, deaths and migration. It helps describe the size, characteristics and future trend predictions in a human group or population. Epidemiology is the study of disease distribution in a population and risk factors determining this disease distribution and progression. Epidemiology is a vital tool of public health practice and uses statistical methods to measure disease occurrence and make comparisons between population groups in order to help us understand how health conditions are distributed among a population and risk factors or causes associated with those conditions. Demographic and epidemiological profile will provide important information for anticipating current and future public health threats as well as evidence for implementing interventions for disease prevention and health promotion. Over the past century, age structures and disease patterns have changed significantly worldwide. These changes have altered population dynamics and health needs accordingly.
Candidate-gene association analysis for a continuous phenotype with a spike at zero using parent-offspring trios
Published in Journal of Applied Statistics, 2020
Nadja Klein, Andrew Entwistle, Albert Rosenberger, Thomas Kneib, Heike Bickeböller
The GAW16 Framingham data (accession number phs000128.v1.p1, obtained from the Database of Genotypes and Phenotypes (dbGaP), http://www.ncbi.nlm.nih.gov/gap) provided extended pedigrees with actual measured genotypes. Thus, any population structure is inherent in these genotype data. Our work based on these data is in accordance with the Declaration of Helsinki (1964) and was approved by the local institutional review board as well as subsequently by dbGaP based on this approval. CAC scores (with 200 data replicates) were simulated by the data providers [13] based on a latent mixture distribution of Gaussian variables, setting negative values to zero, and applying piecewise linear age adjustments. The expected value of the latent variable is basically created as a mixture of (a) total cholesterol and high density lipoprotein (HDL) which are both Gaussian mixture distributions including major genes and polygenes, (b) three effects created by five SNPs of which only rs17714718 was generated to display a measurable additive main effect. SNP rs213952 displays overdominance as heterozygotes are enriched in the spike, and two interacting or epistatic SNP pairs (each SNP with
Gastric cancer in Latin America
Published in Scandinavian Journal of Gastroenterology, 2018
Erika Ruíz-García, Jorge Guadarrama-Orozco, Silvia Vidal-Millán, Leonardo S. Lino-Silva, César López-Camarillo, Horacio Astudillo-de la Vega
It has been proposed ethnicity as a modifying risk factor for developing cancer. These differences can include difference in the transcription of regulating genes, increasing the transcription of genes that promote inflammation and reducing the anti-inflammatory regulating genes [44]. The population of Latin-American countries is the result of a five-century blend between native Americans, Europeans (mostly from Spain, Portugal and Italy) and Sub-Saharan Africans (mostly from West Africa) at a different degree of proportion [45], however, estimated age-standardized incidence and mortality rates in Spain show that gastric cancer does not appear on the top 5 cancers (GLOBOCAN). A case control study in American Native Peruvian population, found a significant association of ancestry with GC (p = .011), but ancestry only explains 1.6% of the variance in disease status [46]. Therefore, in studies on genetic predisposition to diseases, an estimation of the population structure may be very efficient to identify and correct possible effects in the population substructure.
The prevalence of childhood psychopathology in Turkey: a cross-sectional multicenter nationwide study (EPICPAT-T)
Published in Nordic Journal of Psychiatry, 2019
Eyup Sabri Ercan, Guilherme Polanczyk, Ulku Akyol Ardıc, Deniz Yuce, Gul Karacetın, Ali Evren Tufan, Umit Tural, Hatice Aksu, Evrim Aktepe, Ayşe Rodopman Arman, Senem Başgül, Oznur Bılac, Murat Coşkun, Gonca Gul Celık, Sevcan Karakoc Demırkaya, Burak Onur Dursun, İbrahim Durukan, Tülin Fidan, Neşe Perdahlı Fiş, Salih Gençoğlan, Cem Gökçen, Işık Görker, Vahdet Görmez, Özlem Yıldız Gündoğdu, Cihat Kaan Gürkan, Sabri Hergüner, Selma Tural Hesapçıoğlu, Hasan Kandemir, Birim Günay Kılıç, Ayse Kılınçaslan, Tuba Mutluer, Serhat Nasiroğlu, Özlem Özel Özcan, Mücahit Öztürk, Didem Öztop, Sermin Yalın Sapmaz, Serkan Süren, Nilfer Şahin, Aysegul Yolga Tahıroglu, Fevziye Toros, Fatih Ünal, Pınar Vural, İpek Perçinel Yazıcı, Kemal Utku Yazıcı, Veli Yıldırım, Yasemin Yulaf, Murat Yüce, Tuğba Yüksel, Devrim Akdemir, Hatice Altun, Başak Ayık, Ayhan Bilgic, Özlem Hekim Bozkurt, Emine Demirbaş Çakır, Veysi Çeri, Nagehan Üçok Demir, Gülser Dinç, Mustafa Yasin Irmak, Dursun Karaman, Mehmet Fatih Kınık, Betül Mazlum, Nursu Çakın Memik, Dilşad Foto Özdemir, Hayati Sınır, Bedia Ince Taşdelen, Beril Taşkın, Çağatay Uğur, Pınar Uran, Taciser Uysal, Özden Üneri, Savas Yilmaz, Sultan Seval Yılmaz, Burak Açıkel, Hüseyin Aktaş, Rümeysa Alaca, Betül Gül Alıç, Mahmut Almaidan, Fatma Pınar Arı, Cihan Aslan, Ender Atabay, Merve Günay Ay, Hilal Aydemir, Gülseda Ayrancı, Zehra Babadagı, Hasan Bayar, Pelin Çon Bayhan, Özlem Bayram, Neşe Dikmeer Bektaş, Kıvanç Kudret Berberoğlu, Recep Bostan, Merve Arıcı Canlı, Mehmet Akif Cansız, Cansın Ceylan, Neşe Coşkun, Seyma Coşkun, Yasemin Çakan, İbrahim Demir, Nuran Demir, Esen Yıldırım Demirdöğen, Büşra Doğan, Yunus Emre Dönmez, Funda Dönder, Ayşegül Efe, Şafak Eray, Seda Erbilgin, Semih Erden, Elif Gökçe Ersoy, Tuğba Eseroğlu, Sümeyra Kına Fırat, Ezgi Eynallı Gök, Gülen Güler, Zafer Güles, Serkan Güneş, Adem Güneş, Gülay Günay, Börte Gürbüz Özgür, Gökçen Güven, Şeyda Çelik Göksoy, Havvana Horozcu, Ayşe Irmak, Ümit Işık, Özlem Kahraman, Bilge Merve Kalaycı, Umut Karaaslan, Mehmet Karadağ, Hilal Tuğba Kılıc, Fethiye Kılıçaslan, Duygu Kınay, Ömer Kocael, Esra Bulanık Koç, Rahime Kadir Mutlu, Zejnep Lushi-Şan, Kevser Nalbant, Nilüfer Okumus, Fatih Özbek, Fatma Akkuş Özdemir, Hanife Özdemir, Selçuk Özkan, Esra Yıldırım Özyurt, Berna Polat, Hatice Polat, Ebru Sekmen, Mehmet Sertçelik, Feyza Hatice Sevgen, Oğuz Sevince, Funda Süleyman, Ülker Shamkhalova, Nurcan Eren Şimşek, Yaşar Tanır, Mehmet Tekden, Seyhan Temtek, Melike Topal, Zehra Topal, Tuğba Türk, Halit Necmi Uçar, Filiz Uçar, Duygu Uygun, Necati Uzun, Zeynep Vatansever, Neslihan Gökçe Yazgılı, Dilşat Miniksar Yıldız, Nazike Yıldız
Turkey is a transcontinental country with a culturally heterogeneous population. The western parts of the country are more developed with higher-income, and the eastern parts are less developed and with lower-income sociodemographic populations. Also, there is a significant migration from East to West, and from rural to urban in Turkey. This also contributes to the heterogeneity in the population structure all over the country. As a consequence, obtaining a reliable prevalence about childhood mental problems becomes more difficult since these disorders are tightly related with cultural norms in a population. There is no available large-scale and cross-country epidemiological study about the prevalence of childhood mental disorders in Turkey. There have been several attempts to determine the frequency of childhood mental disorders, but they were either focused on one diagnosis or limited with a sample from a specific geographical region in the whole country, or mostly relied on self- and/or parent-reported outcomes [16–18]. Accordingly, the prevalence of clinically significant problems was reported to be between 9.3% and 10.9% for early childhood in Turkey. But, overall conclusion was that studies on nationally-representative samples from Turkey evaluating all of the potential psychopathologies among children and adolescents via structured interviews, and evaluating the relationship with impairment is limited [19]. As a consequence, the country did not contribute to estimates of the recent meta-analysis about the global prevalence of mental disorders in children and adolescents [1].
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