No association of the polyhistidine tract polymorphism of the ZIC2 gene with neural tube defects in a South American (ECLAMC) population
| Autor: | Heloisa N.M. Meneses, Iêda M. Orioli, Kenia B. El-Jaick, Eduardo E. Castilla, Márcia R. Amorim, Marcelo Aguiar Costa-Lima |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Genetics
congenital hereditary and neonatal diseases and abnormalities Cancer Research education.field_of_study Population Biology medicine.disease ZIC2 Biochemistry Microphthalmia Oncology Holoprosencephaly Polymorphism (computer science) Genotype Anencephaly medicine Molecular Medicine Allele education Molecular Biology |
| Zdroj: | Molecular Medicine Reports. |
| ISSN: | 1791-3004 1791-2997 |
| DOI: | 10.3892/mmr.1.3.443 |
| Popis: | The ZIC genes comprise a family of transcriptional factors associated with neural tube defects (NTDs) in mice and with holoprosencephaly in humans. An allelic variant of ZIC2, a CAC repeat within the first exon, was reported in association with an increased risk of non-syndromic NTDs in patients with a Hispanic ethnic background. We investigated whether this 10-residue histidine tract polymorphism of the ZIC2 gene (c.718_720dupCAC) was associated with the risk of NTDs in a sample of 138 patients and their parents from the Latin American Collaborative Study of Congenital Malformations (ECLAMC) hospital network. Analysis with log-linear models of 138 family triads of mother, father and affected child did not provide evidence to support the notion that case (or maternal) 10H/10H or -/10H genotypes were associated with NTDs in this South American population sample, where the 10H variant occurred in 5% of newborns affected with NTDs. We also described the first example of the homozygous state of the 10H allele in a patient with cephalocele, holoprosencephaly and microphthalmia, but did not ascertain whether this polymorphism is associated with the increased risk of a specific subgroup of NTDs, as a normal father of a patient with anencephaly presented the same genotype. |
| Databáze: | OpenAIRE |
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