PMID- 21631238
OWN - NLM
STAT- MEDLINE
DCOM- 20120723
LR  - 20221207
IS  - 1476-4954 (Electronic)
IS  - 1476-4954 (Linking)
VI  - 25
IP  - 4
DP  - 2012 Apr
TI  - Genetic variation in the HSD3B1 gene and recurrent spontaneous abortions.
PG  - 408-10
LID - 10.3109/14767058.2011.582199 [doi]
AB  - OBJECTIVE: HSD3B1 gene encodes the 3beta-hydroxysteroid deydrogenases/isomerase 
      (3beta-HSD) enzyme, which plays a crucial role in the biosynthesis of all hormonal 
      steroids. The aim of this study was to examine the potential impact of a T --> C 
      substitution at codon Leu(338) of HSD3B1 gene on pregnancy outcome. METHODS: In 
      this prospective case-control study, 162 patients and 139 healthy controls were 
      investigated for the possible association between the HSD3B1 T/C polymorphism and 
      the risk of recurrent spontaneous abortions (RSA). The polymerase chain 
      reaction-restriction fragment length polymorphism (PCR-RFLP) method was used in 
      order to genotype the subjects. RESULTS: The frequencies of TT, TC, and CC 
      genotypes were 0.20, 0.51, and 0.29, respectively, in the patient group and 0.20, 
      0.45, and 0.35, respectively, in the control group. The allele frequencies were 
      0.456 and 0.428 for T allele for the patient group and control group, 
      respectively and 0.543 and 0.572 for C allele for the patient and control group, 
      respectively. The data between the two groups were analyzed by chi-square test or 
      Fisher's exact test. Our results showed that there are no significant differences 
      in genotype (P = 0.56) or in allele frequencies (P = 0.51) between the patient 
      and the control group. CONCLUSION: The HSD3B1 T/C polymorphism cannot be used as 
      genetic marker for the risk for RSA in our Caucasian population.
FAU - Ntostis, Panagiotis
AU  - Ntostis P
AD  - Department of Genetics and Biotechnology, University of Athens, Athens, Greece.
FAU - Peraki, Ourania
AU  - Peraki O
FAU - Boulgari, Alexandra
AU  - Boulgari A
FAU - Agiannitopoulos, Konstantinos
AU  - Agiannitopoulos K
FAU - Pantos, Konstantinos
AU  - Pantos K
FAU - Lamnissou, Klea
AU  - Lamnissou K
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20110601
PL  - England
TA  - J Matern Fetal Neonatal Med
JT  - The journal of maternal-fetal & neonatal medicine : the official journal of the 
      European Association of Perinatal Medicine, the Federation of Asia and Oceania 
      Perinatal Societies, the International Society of Perinatal Obstetricians
JID - 101136916
RN  - 0 (3 beta-hydroxysteroid oxidoreductase-delta(5) 3-ketosteroid isomerase)
RN  - 0 (Multienzyme Complexes)
RN  - EC 1.1.- (3-Hydroxysteroid Dehydrogenases)
RN  - EC 1.1.1.145 (Progesterone Reductase)
RN  - EC 5.3.3.- (Steroid Isomerases)
SB  - IM
MH  - 3-Hydroxysteroid Dehydrogenases/*genetics
MH  - Abortion, Habitual/ethnology/*genetics
MH  - Abortion, Spontaneous/ethnology/*genetics
MH  - Adult
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - *Genetic Variation/physiology
MH  - Genetics, Population
MH  - Humans
MH  - Middle Aged
MH  - Multienzyme Complexes/*genetics/physiology
MH  - Polymorphism, Single Nucleotide/physiology
MH  - Pregnancy
MH  - Progesterone Reductase/*genetics/physiology
MH  - Recurrence
MH  - Steroid Isomerases/*genetics/physiology
MH  - White People
MH  - Young Adult
EDAT- 2011/06/03 06:00
MHDA- 2012/07/24 06:00
CRDT- 2011/06/03 06:00
PHST- 2011/06/03 06:00 [entrez]
PHST- 2011/06/03 06:00 [pubmed]
PHST- 2012/07/24 06:00 [medline]
AID - 10.3109/14767058.2011.582199 [doi]
PST - ppublish
SO  - J Matern Fetal Neonatal Med. 2012 Apr;25(4):408-10. doi: 
      10.3109/14767058.2011.582199. Epub 2011 Jun 1.