INTRODUCTION: Recent studies have suggested an association between genetic background of renin-angiotensin system (RAS) and the pathogenesis of pregnancy induced hypertension (PIH). However, the role of the gene coding for angiotensin II receptor (AT1) polymorphism in PIH is not fully understood, thus the aim of the present study was to determine the frequency of A1166C mutation in women with gestational hypertension (GH) and to establish the role of this polymorphism on the susceptibility to the PIH development. PATIENTS & METHODS: We have analysed 88 women with PIH and 113 healthy pregnant women as a controls. Genomic DNA was extracted from leucocytes using polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP). RESULTS: We have detected overrepresentation of mutated homozygous genotypes in the PIH group (11.4% in the PIH versus 2.7% in the controls). Homozygous wild-type genotypes were underrepresented in the PIH group (48.9% in PIH and 56.6% in controls). The frequency of heterozygotes was similar in both groups. Statistically significant overrepresentation of allele with mutation in the PIH group (31.3% in the women with PIH, and 23.0% in the controls) (O.R. = 1.5, p = 0.04) was observed. CONCLUSION: We suggest that presence of A1166C mutation is a risk factor for the development of PIH.
INTRODUCTION: Recent studies have suggested an association between genetic background of renin-angiotensin system (RAS) and the pathogenesis of pregnancy induced hypertension (PIH). However, the role of the gene coding for angiotensin II receptor (AT1) polymorphism in PIH is not fully understood, thus the aim of the present study was to determine the frequency of A1166C mutation in women with gestational hypertension (GH) and to establish the role of this polymorphism on the susceptibility to the PIH development. PATIENTS & METHODS: We have analysed 88 women with PIH and 113 healthy pregnant women as a controls. Genomic DNA was extracted from leucocytes using polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP). RESULTS: We have detected overrepresentation of mutated homozygous genotypes in the PIH group (11.4% in the PIH versus 2.7% in the controls). Homozygous wild-type genotypes were underrepresented in the PIH group (48.9% in PIH and 56.6% in controls). The frequency of heterozygotes was similar in both groups. Statistically significant overrepresentation of allele with mutation in the PIH group (31.3% in the women with PIH, and 23.0% in the controls) (O.R. = 1.5, p = 0.04) was observed. CONCLUSION: We suggest that presence of A1166C mutation is a risk factor for the development of PIH.
Authors: Praveen Sethupathy; Christelle Borel; Maryline Gagnebin; Gregory R Grant; Samuel Deutsch; Terry S Elton; Artemis G Hatzigeorgiou; Stylianos E Antonarakis Journal: Am J Hum Genet Date: 2007-07-12 Impact factor: 11.025