2008 Barcelona - European Society of Human Genetics

Normal variation, population genetics, genetic epidemiology
of Paleoasiatic (Q), Proto-Uralic (N3, N2), Eastern Asian (O, C), and
Western Eurasian (R1, I, J) lineages .
X-chromosomal haplotypes in North Asia are less divers (gene diversity
within populations 0 .65 - 0 .80) and less differentiated (Fst = 4%)
compared to Y lineages .
The population clustering by X and Y gives, to a first approximation, a
similar picture, and matrixes of genetic distances between populations
for X and Y haplotypes significantly correlates.
The age of genetic diversity generation and time of population differentiation
demonstrates the Upper Paleolithic origin of major Y and X
lineages and post-glacial population expansions .
This work is supported by RFBR grants ##06-04-48274 and 07-04-
01629 .
P07.057
Genetic differentiation of ethnic groups of Russia evaluated by
genes of hereditary disorders
R. A. Zinchenko, V. A. Galkina, E. K. Ginter;
Research Center for Medical Genetics, Моscow, Russian Federation.
On the basis of genetic epidemiological study the prevalence of autosomal
dominant, autosomal recessive and X-linked recessive disorders
in 10 regions of Russia (5 ethnic groups: Russians, Maris, Chuvashs,
Udmurts, Adighes) was estimated . The size of the investigated
population was more than 2 .5 millions of persons . Genetic differentiation
between populations of different hierarchical levels by estimated
loads of hereditary diseases was established . The prevalence rate of
all Mendelian disorders varied in the investigated populations from
1 .34 to 5 .92 per 1000 persons . Genetic diversity of hereditary diseases
in the investigated populations was also under our study . 199 autosomal
dominant, 165 autosomal recessive and 48 X-linked recessive
diseases were revealed . Most of them were rare or very rare . There
were some cases of local accumulations of hereditary disorders in the
investigated populations . Simultaneously with medical genetic study
the population genetic study was performed in the populations . By
comparing both studies it was suggested that the genetic drift is a most
important factor which determines genetic differentiation of populations
by the prevalence and genetic diversity of autosomal disorders .
P07.058
Age-dependent genetic polymorphism frequencies and Gene
- Pass
V. S. Baranov1 , H. V. Baranova2 , O. S. Glotov1 ;
1Ott’s Institute of Obstetrics & Gynecology, St.Petersburg, Russian Federation,
2European Institute of Personalized Prevention, Nice, France.
The report highlights the results of collaborative studies of personalized
anti-aging medicine and its impact into longevity and aging .
Special attention is paid to the gene nets of cardiovascular diseases,
renin-angiotensin system, diabetus mellitus, osteoporosis etc . Polymorphic
variants of at least some particular genes such as ACE, AGT,
PAII, MTHFR, APOE, also as metabolic genes, like GSTs and other
oxidative stress markers (NOS) are considered as the most plausible
candidates of the genes crucial for aging . Molecular analysis of
these particular genes supplemented with relevant metabolic genes
testing, responsible for efficiency of detoxification system might have
substantial contribution into personalyzed anti - aging medicine . The
data on allele frequencies distribution for 10 differenet genes in newborns
(106), 119 middle age and 148 old people over 69 are presented
Relevant gene testing supplemented with its adequate sophisticated
interpretation and constructive recommendations might have substantial
contribution to human health and should be considered as a new
highly promising tool in anti-aging medicine “Gene - pass ” term is suggested
for the individual DNA data bank reflecting increased personal
susceptibility to these common disorders . Tremendous impact to its
practical application could be achieved through wide scale application
of biochip technology . The latter are already available or are in
progress for a number of multifactorial diseases . Special attention is
paid to Genetic Pass of Reproductive Health - a version of Genetic
Pass adjusted to the needs of pregnant woman . Life in harmony with
personal gene makeup remains indispensable prerequisite of longevity
and good health . .
P07.059
Genetic demography analysis in urban population in Buryatia
Republic
E. R. Eremina;
Buryat Branch State Institution, Ulan-Ude, Russian Federation.
Ulan-Ude city is center of Buryatia Republic in Trans-Baikal region of
Russia . It was founded about 300 years ago . From that time, both Russians
and Buryats live there . We have studied genetic demography
characteristics in the population of Ulan-Ude and have found some
differences between these two ethnic groups . First of all, migrations
pattern for Buryats is bordered mostly by Buryatia region, whereas for
Russians migrants from distant regions of Russia are typical . However,
fraction of homo-local marriages in Buryats is twice lower than in Russians
. Frequency of homo-ethnic marriages in the two ethnic groups
reflects their portions in the city population. Assortative marriage index
by ethnicity was 87% for Russians, being slightly higher than for Buryats
(81%) . At the same time, assortative marriage indices by locality
were similar for both ethnic groups . Total inbreeding estimated by
isonimy index was 0 .0007 for Buryats and 0 .0005 for Russians . These
estimates were lower than those indices for other Siberian peoples
(Tuvinians, Northern Khantys). Mean age of the first marriage was in
Buryats 25 .9 years for men and 24 .72 years for women, whereas in
Russians it was 24 .86 and 22 .69 years, respectively .
P07.060
Genome-wide association analysis identifies multiple loci
associated with normal variation in height
M. N. Weedon1 , H. Lango1 , G. Lettre2 , .. The GIANT Consortium1,2 ;
1 2 Peninsula Medical School, Exeter, United Kingdom, Broad Institute, Boston,
MA, United States.
There are many single gene disorders that affect stature, but little is
known about the genetic variants that explain normal variation of adult
height . The availability of genome-wide association data offers new
opportunities to identify the genes involved in normal growth .
Recent meta-analyses of genome-wide association studies (GWAS),
using up to 16,000 individuals, have identified 22 independent loci
associated with height (p32,000
individuals .
Initial meta-analysis identified 111 independent loci with p