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No association between polymorphisms in cubilin, a gene of the homocysteine metabolism and the risk of non-syndromic cleft lip with or without cleft palate.
Martinelli, M; Carinci, F; Morselli, P G; Palmieri, A; Girardi, A; Riberti, C; Scapoli, L.
Affiliation
  • Martinelli M; Department of Histology, Embryology and Applied Biology, University of Bologna, Bologna, Italy.
Int J Immunopathol Pharmacol ; 24(2 Suppl): 11-4, 2011.
Article in En | MEDLINE | ID: mdl-21781439
ABSTRACT
Epidemiological studies have correlated lower maternal periconceptional levels of plasma folate and cobalamin with increased risk of delivering offspring presenting congenital malformations such as cleft lip with or without cleft palate (CL/P) or neural tube defects. A number of genetic studies aimed at correlating these biochemical levels or the occurrence of malformations with specific genetic defects or polymorphisms have been successfully performed. The cubilin gene (CUBN) codes for a carrier that plays a crucial role in cobalamin cell internalization. CUBN polymorphisms were previously found to be associated with spina bifida occurrence. In this work, a family-based association study was performed to test CUBN involvement in CL/P. A sample of 391 CL/P triads was investigated with three single nucleotide polymorphisms mapping on the cubilin gene. Association tests indicated no significant association between CL/P and marker alleles or marker haplotypes. No evidence of maternal effect and imprinting were obtained. These data suggest that CUBN is not involved in CL/P onset in the investigated Italian population.
Subject(s)
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Collection: 01-internacional Database: MEDLINE Main subject: Cleft Lip / Cleft Palate / Receptors, Cell Surface Type of study: Etiology_studies / Risk_factors_studies Limits: Female / Humans / Male Country/Region as subject: Europa Language: En Journal: Int J Immunopathol Pharmacol Journal subject: ALERGIA E IMUNOLOGIA / FARMACOLOGIA / PATOLOGIA Year: 2011 Document type: Article Affiliation country:
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Collection: 01-internacional Database: MEDLINE Main subject: Cleft Lip / Cleft Palate / Receptors, Cell Surface Type of study: Etiology_studies / Risk_factors_studies Limits: Female / Humans / Male Country/Region as subject: Europa Language: En Journal: Int J Immunopathol Pharmacol Journal subject: ALERGIA E IMUNOLOGIA / FARMACOLOGIA / PATOLOGIA Year: 2011 Document type: Article Affiliation country: