2009 Vienna - European Society of Human Genetics

Complex traits and polygenic disorders
nia, we scanned all possible functional SNPs within these two genes
by polymerase chain reaction (PCR)-based genotyping analysis in
540
paranoid schizophrenic patients and 660 control subjects from a Han
Chinese population. We also determined the effects of schizophrenia
associated SNPs on the development of psychotic symptoms, P300
event-related potential components induced by an auditory odd-ball
task, and gene expression examined by quantitative real-time PCR
analysis.
Results: The major findings of this study were that, among the individuals
carrying the rs3751082 A allele in the ALDH3B1 gene, the rs4633 T
allele in the COMT gene was associated with susceptibility to paranoid
schizophrenia (p=0.004), development of hallucination (p=5.141 E-5),
delay of P300 latency in both patients (p.006) and control subjects
(p=0.02), and increased expression of the COMT gene in control subjects
(p=0.002). However, the rs4633 T allele did not show any association
in the rs3751082 G/G genotype carriers.
Conclusions: These findings provided convincing evidence that epistasis
between the COMT and ALDH3B1 genes plays an important role in
the pathogenesis of schizophrenia.
P09.097
N-acetylation factor in the pathogenesis of pelvic organ prolapse
(POP)
Y. A. Degtyareva 1 , T. E. Ivashchenko 1 , V. F. Bezhenar 1 , Y. A. Nasihova 2 ;
1 Ott`s Research Institute of Obstetrics and Gynecology RAMS, St.Petersburg,
Russian Federation, 2 St.Petersburg State University, St.Petersburg, Russian
Federation.
More than half of women having children experience different form of
prolapse in their late adulthood. A number of studies are focused on the
POP pathogenesis. Metabolic enzymatic activities contribute greatly to
the POP genesis. We have hypothesized that the activity of N-acetyltransferase-2
(NAT-2), a previously known factor for some gynecological
pathology, could influence POP pathogenesis. Polymorphism
of NAT-2 gene (NAT2*4 (N), NAT2*11A (S1), NAT2*6B (S2), NAT2*7A
(S3)) was detected by PCR in 70 POP patients (age 51,7 ± 9,8) and
in population sample from Northwest region of Russia (89 individuals).
Patients demonstrated different stages of POP: 31,4%- stage I, 34,3%
- stage II, 28,6% - stage III and 5,7%- stage IV. In the patient group
frequency of N/N genotype was significantly lower (p =0,0015) and
frequency of homo- and heterozygous mutant alleles was significantly
higher (p=0,0466), compared to the population data. Interestingly, the
frequency of S2 allele was significantly higher (p