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Contribution of rs10830963 and rs1387153 polymorphisms on melatonin gene to the occurrence of gestacional Diabetes and orofacial clefts

Grant number: 14/05388-0
Support type:Regular Research Grants
Duration: October 01, 2014 - March 31, 2017
Field of knowledge:Health Sciences - Dentistry
Principal researcher:Ivy Kiemle Trindade Suedam
Grantee:Ivy Kiemle Trindade Suedam
Home Institution: Hospital de Reabilitação de Anomalias Craniofaciais (HRAC). Universidade de São Paulo (USP). Bauru , SP, Brazil
Assoc. researchers:Carlos Ferreira dos Santos


Orofacial clefts are the most prevalent congenital malformation in humans . According to a report released by WHO in 2002 , the etiology of craniofacial malformations including orofacial clefts is complex and multifactorial , including genetic and environmental factors . Considering that studies suggest that the presence of diabetes mellitus in pregnant women is associated with an increased 2-8 times in the occurrence of fetal malformations , it is assumed that the chance of the emergence of orofacial clefts in fetuses generated in hyperglycemic environments is also higher . Recent studies have shown that the gene encoding melatonin 1B receptor is strongly associated with the onset of gestational diabetes mellitus, type 2 diabetes, increased fasting glucose and impaired insulin secretion in populations of European and Asian ancestry. No similar studies were found with the Brazilian population. Therefore, this study aims at investigating the prevalence of polymorphisms in the gene encoding melatonin 1B receptor ( rs10830963 and rs1387153 ) in mothers with and without gestational diabetes and their children with and without cleft lip and palate and also investigate whether there is an association between polymorphisms in the melatonin 1B recepto gene and rs2235371 (IRF6 ), rs2073247 and rs17176643 (PAX9) and rs742071 (PAX7) polymorphisms, known to be associated with orofacial clefts in mothers with and without gestational diabetes and their children with and without cleft lip and palate . (AU)

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