Analysis of CDKN1C gene variants and pre-eclampsia

• Grant number: 07/01911-6
• Support Opportunities: Scholarships in Brazil - Master
• Start date: September 01, 2007
• End date: August 31, 2009
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Ester Silveira Ramos
• Grantee: Murilo Racy Soares
• Host Institution: Faculdade de Medicina de Ribeirão Preto (FMRP). Universidade de São Paulo (USP). Ribeirão Preto , SP, Brazil

Abstract

Pre-eclampsia (PE) is characterized by hypertension and associated with proteinuria, after 20 weeks gestation, with higher risk on the extremes of maternal reproductive age. The progression to eclampisa (E) is one of the leading causes of maternal and fetal death. The etiology is unknown, but there are evidences that genetics predisposition is involved in the development of PE. Studies with candidate genes have been realized to associate the epidemiologic datas and to establish a heritance model. The CDKN1C (cyclin-dependent kinase inhibitor 1C) gene, also named P57Kip2, is located on 11p15.5 region in human chromosome and is able to suffer genomic imprinting. In this same chromosomal region are located the IGF2 (insulin-like growth factor-2), the H19, the KvLQT1, and the LIT1 genes. The CDKN1C has a significant role on inhibition of trophoblast ploriferation. Studies using animal models (mice) showed that alterations in PE might be induced by loss of expression of this gene. The object of the present study is to associate the CDKN1C variations with PE. Blood samples of 100 women with PE and 100 normal patients will be collected. After the DNA extraction from peripheral blood, Single Strand Conformational Polymorphism (SSCP) and automatic genome sequencing will be used to analyze the genotypes of the patient and controls. The results, besides the scientific interests, will be related to the clinical findings to help on the genetic counseling of the patients and their families. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

SOARES, M. R.; HUBER, J.; RIOS, A. F. L.; RAMOS, E. S.. Investigation of IGF2/ApaI and H19/RsaI polymorphisms in patients with cutaneous melanoma. GROWTH HORMONE & IGF RESEARCH, v. 20, n. 4, p. 295-297, AUG 2010. (07/01911-6, 09/08313-2)