DNA (cytosine-5)-methyltransferase 3B (DNMT 3B) polymorphism and risk of down syndrome offspring
Joint Authors
Moura, Claudia Melo de
Bastos, Pedro Ribeiro
Ribeiro, Julyana S. V.
Ribeiro, Marcia Goncalves
Amorim, Marcia Rodrigues
Costa Lima, Marcelo Aguiar
Source
Saudi Journal of Biological Sciences
Issue
Vol. 25, Issue 1 (31 Jan. 2018), pp.101-104, 4 p.
Publisher
Publication Date
2018-01-31
Country of Publication
Saudi Arabia
No. of Pages
4
Main Subjects
Natural & Life Sciences (Multidisciplinary)
Abstract EN
Down syndrome (DS) is the most common form of human genetic mental retardation.
Several polymorphisms in genes coding folic acid cycle enzymes have been associated to the risk of bearing a DS child; however, the results are controversial.
S-adenosyl-L-methionine (SAM) is an important intermediate of folic acid pathway and acts as methyl donor and substrate for DNA (cytosine-5) methyltransferase 3B (DNMT3B – EC 2.1.1.37) de novo methylation processes during embryogenesis.
Recent studies suggest that a functional polymorphism of DNMT 3B in maternal genotype may be associated with a decreased risk of having a DS child.
We herein investigate the association of this polymorphism with the occurrence of DS in a Brazilian population.
We have genotyped 111 mothers of DS infants (MDS) and 212 control mothers (CM) through PCR-RFLP.
The observed genotypic frequencies were CC = 0.22; CT = 0.49 and TT = 0.29 in CM, and CC = 0.30; CT = 0.52 and TT = 0.18 in MDS.
Allelic frequencies were C = 0.47 and T = 0.53 in CM and C = 0.56 and T = 0.44 in MDS.
No deviation of HWE was observed, and both DNMT 3B rs2424913 genotype (v2 = 4.53; DF = 1; P = 0.03) and allelic (v2 = 4.90; DF = 1; P = 0.03) frequencies show significant differences between MDS and CM.
The presence of the mutant DNMT 3B T allele decreases 30% the risk of bearing a DS child (OR = 0.69; 95% CI: 0.50–0.96; P = 0.03), and the risk is diminished up to 45 % in association with the homozygous genotype (OR = 0.54; 95% CI: 0.31–0.96; P = 0.04).
Our results suggest that women harboring the single nucleotide polymorphism DNMT 3B rs2424913 have a decreased risk of a DS pregnancy, and further studies are necessary to confirm this protective effect.
American Psychological Association (APA)
Moura, Claudia Melo de& Bastos, Pedro Ribeiro& Ribeiro, Julyana S. V.& Ribeiro, Marcia Goncalves& Amorim, Marcia Rodrigues& Costa Lima, Marcelo Aguiar. 2018. DNA (cytosine-5)-methyltransferase 3B (DNMT 3B) polymorphism and risk of down syndrome offspring. Saudi Journal of Biological Sciences،Vol. 25, no. 1, pp.101-104.
https://search.emarefa.net/detail/BIM-780548
Modern Language Association (MLA)
Moura, Claudia Melo de…[et al.]. DNA (cytosine-5)-methyltransferase 3B (DNMT 3B) polymorphism and risk of down syndrome offspring. Saudi Journal of Biological Sciences Vol. 25, no. 1 (Jan. 2018), pp.101-104.
https://search.emarefa.net/detail/BIM-780548
American Medical Association (AMA)
Moura, Claudia Melo de& Bastos, Pedro Ribeiro& Ribeiro, Julyana S. V.& Ribeiro, Marcia Goncalves& Amorim, Marcia Rodrigues& Costa Lima, Marcelo Aguiar. DNA (cytosine-5)-methyltransferase 3B (DNMT 3B) polymorphism and risk of down syndrome offspring. Saudi Journal of Biological Sciences. 2018. Vol. 25, no. 1, pp.101-104.
https://search.emarefa.net/detail/BIM-780548
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 104
Record ID
BIM-780548