2008 Barcelona - European Society of Human Genetics

Normal variation, population genetics, genetic epidemiology
CYP2D6 allele frequencies
Group N CYP2D6*3 CYP2D6*4 CYP2D6*10
Zitlala, Gro . 44 0 .0 7 .4 0 .0
Chila, Gro . 27 1 .8 9 .2 0 .0
Ixhuatlancillo, Ver . 47 0 .0 1 .1 2 .1
Necoxtla, Ver . 36 9 .7 20 .8 2 .8
Coyolillo, Ver . 36 1 .4 16 .7 5 .6
Milpa Alta, D .F . 23 2 .2 6 .5 0 .0
Santo Domingo, Mor . 102 0 .0 16 .0 0 .2
Mexican mestizos 243 1 .44 11 .21 12 .45
P07.033
Frequency of cFtR mutations in infertile italian individuals
A. Verri, G. Miano, K. Roda, V. Prina, V. Grazioli;
Centro Diagnostico Italiano, Milano, Italy.
In our institute, one of the main italian private healthcare institutions
focused on out-patient and day hospital services, we perform the analysis
of 57 mutations and of poly-T polymorphism in intron 8 of the Cystic
Fibrisis gene (CFTR) on patients of Medically Assisted Procreation
(MAP) Centers .
At the present, more than 1400 different mutations have been registered
in the CF Mutation Database (http://www .genet .sickkids .on .ca/
cftr); few of them show frequencies higher than 1% whereas most of
them are “private mutations” . Analysis of the Italian population show
patterns of genetic differentiation: the “capture rate” of the test in use
is quite different for various italian regions, ranging from 74 .7% for
Lombardia to a maximum of 88 .3% and 88 .1% for Basilicata e Sardegna
respectively (data inferred by the frequency of CFTR mutations in
different italian regions (1)) . We present results about the analysis on
2320 individuals comparing them with those obtained by the authors in
other MAP Centers (2): as expected, the frequencies of the analysed
CFTR mutations show significative differences.
We do believe that data obtained in infertile individuals could be very
useful for evaluation of carriers frequency in general population .
(1) The molecular genetic epidemiology of cystic fibrosis. Report of
a joint meeting of WHO/ECFTN/ICF(M)A/ECFS, Genova, 19 Giugno
2002
FREQUENZA DELLE MUTAZIONI CFTR IN COPPIE INFERTILI
(2) Frequenza delle mutazioni CFTR in coppie infertili
A .Verri, M .Bologna, T .Sarno and A . Montanelli
38° Congresso Nazionale della Società Italiana di Biochimica Clinica e
Biologia Molecolare Clinica, Torino, 19 - 22 settembre 2006
P07.034
the analysis of polymorphism cYP1A1 and cYP1A2 genes at
the population of Russia (Republic Bashkortostan)
O. Kochetova, L. Karimova, T. Victorova;
Institute of Biochemistry and Genetics, Ufa, Russian Federation.
In three ethnic groups of Republic Bashkortostan: Russian (N=451),
Tatars (N=333) and Bashkirs (N=171) was studied distribution of alleles,
genotypes and haplotypes polymorphic loci CYP1A1 (A2455G,
Ò3801Ñ) and CYP1À2 (-2464T/delT, -163Ñ/À) . It was shown the
similarity of groups Tatars and Russian on haplotypes frequencies
CYP1A1 gene (χ 2 =0 .97, df=3, ð=1 .00) è CYP1A2 gene (χ 2 =1 .55, df=3,
ð=0.92). We found significant differences in haplotypes frequencies
CYP1A1 gene between the ethnic group Bashkirs and groups Tatars
and Russian (χ 2 =12.33 df=3, ð=0.008; χ 2 =9 .22 df=3, ð=0 .034, accordingly),
that is connected with high frequency of CYP1A1*2B (10 .17%)
among the Bashkirs .
The MspI locus (T3801C) is in linkage disequilibrium with the A2455G
polymorphism in the Bashkir population, the Tatars and Russian
(1 .61%) populations . The frequency of the CYP1A2*1D haplotypes
was highest in the Bashkir population (11 .02%) compared to frequencies
that were found in the Tatars (2 .36%) and Russian (1 .61%) populations
. Similar distinctions of on haplotypes frequencies CYP1A1 gene
an ethnic group the Bashkir with Russian and Tatars (χ 2 =18 .78, df=3,
ð=0.0001 and χ 2 =14 .33, df=3, ð=0 .003, accordingly) . The CYP1A1*2A
haplotype was meet with High frequency in all ethnic groups . The
frequency of CYP1A1*2A haplotype considerably increased in The
Bashkir ethnic group (15 .79%) that is comparable to frequency of
this haplotype in Asian populations (14 .9%) . The increasing of the
CYP1A1*2A haplotype frequency in the Russian ethnic group up to
9.0% in comparison with 5.8% in samples of Europeans also reflects
presence Asian components in origin of Russian ethnic group living in
Republic Bashkortostan .
P07.035
A study of the insertion-Deletion polymorphism of the gene
cYP2E1
E. M. Vasilieva;
Bashkir State Pedagogical University it. M.Akmulla, Ufa, Russian Federation.
INTRODUCTION: We studies gene, encoding ferments of the first
phase biotransformation xenobiotics, cytochrome P-450 2E1(CYP2E1) .
CYP2E1 coding the ferment N,N-dimetilnitrozoamin-n- dimethylazy is
located on the chromosome 10 (q24 .3) consist of 9 exons and 8 introns
. . In given gene exists polymorphism, given by insertion 96 p .b . in
promoter region (the allele: *D - 633 p .b ., *I - 729 p .b .) . The ferment,
coded gene, have charge of removing ethanol and acetone expression
level is significantly lower in other organs and tissues, in particular,
kidneys, pancreas, brain, lung, nasal and intestinal mucosa .
Materials and methods: We studied 3 groups: individuals living in region
with disadvantage ecological condition, group persons concerning
with sport, and the general sample . The individuals age made up
from 14 up to the ages of 30 . The analysis genetic polymorphism is
realized by polymerase chain reaction (PCR) .
RESULTS: In group of the inhabitants region with disadvantage ecological
condition frequency genotype *D/*D vastly increased (96 .2%),
but in group athlete tends to reduction (58 .5%) in contrast with the total
sample (69 .2%) . The frequency genotype *I/*D is lowered in group of
the inhabitants region with disadvantage ecological condition (3 .8%)
and increased beside athlete (41 .5%) in contrast with the total sample
(30 .4%) . In sharing the frequencies alleles in group of the inhabitants
region significant increasing of the frequency allele exists with
disadvantage ecological background *D (98 .1%) and reduction allele
*I (1 .9%) in contrast with the total sample (84 .4% and 15 .6% accordingly)
.
P07.036
The effect of the DAOA (G72/G30) gene and developmental risk
factors on depression and related temperament traits in Finnish
birth cohort
E. S. Nyman 1 , P. Soronen 1 , J. Miettunen 2,3 , A. Loukola 1,4 , M. Joukamaa 5,6 , P.
Mäki 2 , M. Järvelin 7,8 , N. Freimer 9 , L. Peltonen 1,10 , J. Veijola 2,3 , T. Paunio 1,11 ;
1 FIMM, Institute for Molecular Medicine Finland and National Public Health
Institute, Helsinki, Finland, 2 Department of Psychiatry, University of Oulu and
Oulu University Hospital, Oulu, Finland, 3 Academy of Finland, Helsinki, Finland,
4 Finnish Genome Center, University of Helsinki, Helsinki, Finland, 5 Tampere
School of Public health, University of Tampere, Tampere, Finland, 6 Department
of Psychiatry, Tampere University Hospital, Tampere, Finland, 7 Department of
Epidemiology and Public Health, Imperial College, London, United Kingdom,
8 Institute of Health Sciences, University of Oulu, Oulu, Finland, 9 Semel Institute
for Neuroscience and Human Behavior, University of California, Los Angeles,
CA, United States, 10 Wellcome Trust Sanger Institute, Cambridge, United Kingdom,
11 Department of Psychiatry, Helsinki University Central Hospital, Helsinki,
Finland.
D-Amino acid oxidase activator (DAOA or G72/G30) encodes for a
protein with a possible role in glutamate signaling, and it has been
implied in the development of schizophrenia and bipolar disorder . It
has been suggested to increase susceptibility to episodes of mood
disturbances across diagnostic boundaries . We investigated the role
of DAOA in depression in a population-based Northern Finland Birth
Cohort 1966 (n=12058) . We ascertained a sample based on developmental
risk factors (high risk n=285, low risk n=926) with a clinically
postulated connection to depression susceptibility, including difficulties
during the perinatal or early childhood periods or related to the
psychosocial environment, to dissect genetic effects increasing liability
to depression from environmental effects . Depressive symptoms were
quantified according to the Symptom Checklist (SCL) and dichotomous
depression was classified as self-reported depressive disorder
diagnosed by a clinician . We also wanted to examine Cloninger’s
Temperament and Character Inventory (TCI) temperament traits because
of previous affirmative reports, especially on Harm avoidance
to depressive disorder . We genotyped evenly spaced haplotype tagging
SNPs at the DAOA locus, and performed linear regression and
case/control association testing against the selected traits . In preliminary
analyses we detected an association of DAOA with depression in
low risk females and with depressive symptoms in low risk males . We