TGFB1 Functional Gene Polymorphisms (C‐509T and T869C) in the Maternal Susceptibility to Pre‐eclampsia in South Indian Women. (10th September 2015)

• Record Type: Journal Article
• Authors: Deepthi, Goske; Chaithri, Ponnaluri Kamakshi; Latha, Prasanna; Usha Rani, Vital; Rahman, Police Fazul; Jahan, Parveen
• Is Part Of: Scandinavian journal of immunology. Volume 82:Number 4(2015:Oct.)
• Page Start: 390
• Page End: 397
• Publication Date: 2015-09-10
• Subjects: Immunology -- Periodicals; 571.96
• DOI: 10.1111/sji.12342
• Languages: English
• ISSNs: 0300-9475

Abstract

<abstract abstract-type="main" id="sji12342-abs-0001"> <title>Abstract</title> <p>Pre‐eclampsia (PE), a pregnancy‐specific vascular disorder characterized by hypertension and proteinuria, is hypothesized to be the result of inadequate placental angiogenesis with attendant systemic inflammation. The pleiotropic cytokine, Transforming Growth Factor‐<italic>β</italic>1 (<italic>TGF‐β1</italic>), is considered to be a key candidate gene in the molecular pathogenesis of PE by virtue of its ability to not only regulate angiogenesis and apoptosis of target cells, but also by acting as a master controller of Th1/Th2 cytokine balance and production of the anti‐inflammatory peripheral regulatory T cells (FOXP3+ Tregs). Based on this presumption, we screened a total of 469 pregnant women from South India that include 239 patients with PE and 230 healthy controls for the two functional polymorphisms of <italic>TGFB1</italic> gene (C‐509T and T869C). The genotype frequencies of these two polymorphisms differed significantly between the PE and control groups (<italic>P </italic>=<italic> </italic>0.01 and <italic>P</italic> = 0.002, for the <italic>TGFB1</italic> C‐509T and T869C polymorphisms, respectively). Under the over‐dominant model, the CT genotype of the <italic>TGFB1</italic> C509T polymorphism showed a high protective effect (<italic>P</italic> = 3e‐04), while the TT genotype of the same variant appeared to be the predisposing genotype (<italic>P</italic> = 0.003). The T‐T and C‐C haplotypes were found to be the risk haplotypes blocks towards PE (OR = 4.72; <italic>P </italic>=<italic> </italic>0.031, OR = 5.39; <italic>P </italic>=<italic> </italic>0.03), respectively. Strong linkage disequilibrium was seen between the two polymorphisms. Our investigations revealed a significant influence of <italic>TGFB1</italic> C‐509T and T869C polymorphisms on the PE risk in South Indian women. The study represents one of the first of its kind from the Indian subcontinent.</p> </abstract>