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Горцы Дагестана.
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The effect of inbreeding on aggregation of complex diseases in genetic isolates
O. A. Bulayev1, T. A. Pavlova1 and K. B. Bulayeva1
(1) Vavilov’s Institute of General Genetics, Russian Academy of Sciences, Moscow, 119991, Russia
Received: 11 September 2007 Accepted: 19 October 2007 Published online: 25 August 2009
Abstract We have studied the effect of genetic processes in ethnically and demographically diverse isolates on the epidemiology of complex diseases. Our long-term studies of five indigenous Dagestan ethnic groups have revealed ten genetic isolates with aggregation of schizophrenia-related diseases. According to Neel’s classification (1992), these isolates belong to primary and secondary depending on the duration of demographic process. We have found that the average demographic ages of the examined primary and secondary isolates were about 4000 and 700 years, respectively. The inbreeding level F was studied using two methods: analysis of marriage structure in three generations, which is traditional in population-genetic studies, and analysis of the same structure in extensive pedigrees (up to 11–13 generations). We have shown that with the second method, the F value increases two- to threefold in various isolates. The accumulated inbreeding in the primary isolates proved to be twofold higher than that in the secondary ones. Primary isolates have revealed relatively higher genetic and clinical homogeneity in combination with higher aggregation of population-specific complex disease pathology compared to secondary isolates. A decrease in observed recombinations and the number of genomic loci linked with the disease in primary isolates have been also demonstrated. Thus, our studies showed that complex diseases can be less expensive and mapping of genes for time-consuming if conducted in primary rather than in secondary isolates, in particular when dealing with genetically heterogeneous outbred human populations.
Original Russian Text © O.A. Bulayev, T.A. Pavlova, K.B. Bulayeva, 2009, published in Genetika, 2009, Vol. 45, No. 8, pp. 1096–1104.
http://springerlink.com/content/15040032k1t82106/ююююююююююююююююююююююююююююююююююююююююююююююююююююю
Genetic bottleneck among daghestan highlanders migrating to lowlands
Kazima B. Bulayeva1 , Elizabeth Marchani2, Olga L. Kurbatova1, Scott W. Watkins2, Oleg A. Bulayev1 and Henry C. Harpending3
(1) N.I.Vavilov Institute of General Genetics, Russian Academy of Sciences, 117809 Moscow, Russia
(2) Eccles Institute of Human Genetics, University of Utah Health Sciences Center, Salt lake City, UT 84112, USA
(3) Department of Anthropology, University of Utah, Salt Lake City, Utah 84112, USA
Received: 4 April 2008 Accepted: 17 July 2008 Published online: 22 October 2008
Abstract We present results of Short tandem repeat polymorphisms (STRPs) analysis and epidemiology study of indigenous ethnic highlanders of Daghestan and of the migrants from highlands to the lowland area in 1944, in comparison with native lowlanders. Results obtained show that demographically ancient highland ethnics have achieved a relatively stable equilibrium in their native environment and are characterized by optimal level of the main viability parameters (fertility, mortality, lifespan and morbidity). Migrants from highlands to the lowlands experienced dramatically increased morbidity and mortality in 1944–1947: up to 65–70% of total migrants had suffered malaria, typhus and other new infections and about 35–37% of total migrants had died. Genetic-epidemiological study support that non-survived migrants were characterized by a higher inbreeding rate, lower heterozygosity and higher physiological sensitivity to the environmental stress. This inter-connected complex had advantage for adaptation of the highlanders to the native environment but diminished their adaptability in the new and/or changing environment. A detailed study using STRP we performed in 1995–1999 in one highland isolate of ethnic Avars of whom about 50% were moved to the lowland area. We found significant differences in genetic and demographical structures between these highland and migrant parts of the isolate: the genetic bottleneck among migrants had a great qualitative and quantitative impact on their gene pool, i.e., lost of rare native population alleles, as well as of about 1/3 of total migrants with certain genotypes. Survived migrants demonstrate shorter lifespan and higher morbidity rate that support their still ongoing genetic adaptation to the lowland environment.
http://springerlink.com/content/b46q1872p4650984/ююююююююююююююююююююююююююююююююююююююююююююююююююююю
Season of birth interacts with measures of inbreeding in multiplex schizophrenia pedigrees: evidence from genetic isolates in Daghestan
Kazima B. Bulayeva1 and John J. McGrath2
(1) N.I. Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, 119991, Russia
(2) Queensland Centre for Mental Health Research, Department of Psychiatry, University of Queensland, The Park Centre for Mental Health, Wacol, QLD 4076, Australia
Received: 4 August 2006 Accepted: 12 October 2006
Abstract While the season-of-birth effect is one of the most consistent epidemiological features of schizophrenia, there is a lack of consistency with respect to the interaction between season of birth and family history of schizophrenia. Apart from family history, measures related to consanguinity can be used as proxy markers of genomic heterogeneity. Thus, these measures may provide an alternate, indirect index of genetic susceptibility. We had the opportunity to explore the interaction between season of birth and measure of consanguinity in well-described genetic isolates in Daghestan, some of which are known for their relatively high prevalence of schizophrenia. Our previous population-genetic study showed Daghestan has an extremely high genetic diversity between the ethnic populations and a low genetic diversity within them. The isolates selected for this study include some with more than 200 and some with less than 100 generations of demographical history since their founding. Based on pedigrees of multiply-affected families, we found that among individuals with schizophrenia, the measure of consanguinity was significantly higher in the parents of those born in winter/spring compared to those born in summer/autumn. Furthermore, compared to summer/autumn born, winter/spring born individuals with schizophrenia had an earlier age-of-onset, and more prominent auditory hallucinations. Our results suggest that the offspring of consanguineous marriages, and thus those with reduced allelic heterogeneity, may be more susceptible to the environmental factor(s) underpinning the season-of-the effect in schizophrenia.
http://springerlink.com/content/x52323010m367725/