The Role of Mutations on Gene TGFB1 in Camurati Engelmann Syndrome

Camurati-Engelmann disease (CED) is characterized by increased bone density primarily affecting the long bones of the arms and legs and the skull. The thickening of these bones leads to pain, a waddling gait, muscle weakness, and extreme fatigue. Increased density of the skull can cause a variety of neurological deficits such as headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and even facial paralysis. The first symptoms of the condition can appear at varying ages, but usually during childhood, with pain and proximal muscle weakness developing by adolescence. CED is often diagnosed based on a physical exam and radiographic findings (X-rays). CED is inherited in an autosomal dominant manner and is caused by changes (mutations) in the TGFB1 gene.

Association of TGFB1 gene polymorphisms with cervical cancer in Bangladeshi women: A case-control study

OBJECTIVES: Genetic susceptibility to cervical cancer in relation to transforming growth factor beta 1 (TGFB1) gene polymorphisms has not been investigated extensively among the women in Bangladesh. So, the aim of this study was to find out the correlation of the polymorphisms of TGFB1 C509T (rs1800469) and T869C (rs1800470) with the risk of cervical cancer among the Bangladeshi women. STUDY DESIGN: 134 cervical cancer patients and 102 age-sex matched healthy controls were included from two institutions in Bangladesh. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for genotyping two TGFB1 single nucleotide polymorphisms C509T (rs1800469) and T869C (rs1800470) in patients and controls. RESULTS: No significant correlation was found between polymorphisms C509T (rs1800469) and T869C (rs1800470) of TGFB1 gene with cervical cancer in Bangladeshi women. In case of the cervical cancer patients who had first degree relatives with cancer were prone to carry the polymorphic version of the TGFB1 gene polymorphism at C509T (OR = 5.597, 95% CI = 1.224–25.597, p < 0.05) but may not result in the increase of developing cervical cancer. CONCLUSION: In summary, two polymorphisms C509T and T869C of TGFB1 gene may not be associated with cervical cancer risk in Bangladeshi women.

Polymorphism –509C/T in TGFB1 Promoter Is Associated With Increased Risk and Severity of Persistent Allergic Rhinitis in a Chinese Population

Background Polymorphism –509C/T in the promoter of transforming growth factor beta1 ( TGFB1) gene is implicated in the pathogenesis of asthma. This polymorphism might also act to regulate the development of allergic rhinitis (AR). Objectives To investigate whether –509C/T is associated with AR susceptibility and severity in a Han Chinese population. Methods The study enrolled 263 patients with persistent AR and 249 healthy controls. AR patients were classified as mild or moderate/severe AR groups according to the Allergic Rhinitis and its Impact on Asthma classification. TGFB1 gene polymorphism –509C/T was genotyped with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Serum total Immunoglobulin E (IgE) and specific IgE levels were determined using an ImmunoCAP. Results Significant difference was found in the allele frequency of TGFB1 –509C/T between AR patients and healthy controls ( P = .027) but not in the genotype frequency ( P =.051). However, the genotype frequency of TGFB1 –509C/T showed significant difference between the mild AR group, the moderate/severe AR group, and the control group ( P = .012); between the moderate/severe AR group and the control group ( P =.036); between the mild AR group and the moderate/severe AR group ( P = .038); but not between the mild AR group and the control group ( P =.075). Conclusion TGFB1 promoter polymorphism –509C/T may be associated with the susceptibility and the severity of persistent AR of Han Chinese, but the functional relationship still needs clarification.

Preliminary results of the investigations regarding the association of transforming growth factor- beta1 (TGFB1) gene polymorphism to metabolic syndrome in a Romanian patients group

Genetic factors have a variable impact in predisposition for common chronic diseases, such as those grouped as metabolic syndrome (MS). MS, obesity, type 2 diabetes and hypertension have a common factor, represented by the inflammatory processes. There are numerous susceptibility genes associated with inflammation and these diseases; one gene of them is transforming growth factor –beta1 (TGFB1) gene. The promoter SNP TGFb1 -509C>T (rs1800469) has been reported as the risk factor associated with diabetes, kidney and heart diseases in European population. This work describes the distribution of this SNP in the MS and healthy groups from Romanian population. Our preliminary data could not confirm an association between MS and TGFb1 -509C>T.