Leptin gene Polymorphism and Leptin protein levels in Pediatric Autoimmune Hepatitis.

BACKGROUND: Leptin plays a role in regulating energy balance, immunity, and inflammation. Studies suggest higher leptin levels might be associated with various autoimmune diseases. Most of them were in adult. To our knowledge, our study is one of the few that describe serum leptin level and leptin gene polymorphism in children with autoimmune hepatitis (AIH). OBJECTIVE: Our study aims to explore the association between serum leptin level and genetic variations in leptin gene with the likelihood of AIH in children. PATIENTS AND METHODS: Thirty-one children with AIH and 29 healthy children serving as a control group were included. Serum leptin levels were measured by ELISA assays. Leptin rs2167270 genotyping was done using the real time-PCR. The relationship of serum leptin level and leptin gene polymorphism with patients' data was studied. Patients follow up to assess treatment response. RESULTS: Children with AIH had significantly higher levels of leptin compared to healthy controls. GG genotype was significantly more prevalent in the AIH group compared to controls. CONCLUSION: High serum leptin levels and leptin gene polymorphism may play a role in AIH development. It is worthy to recognize if leptin can serve as diagnostic and/or therapeutic target in AIH in children.

Vitamin D Receptor Gene Polymorphism In Chronic Telogen Effluvium; A Case-Control Study.

BACKGROUND: Telogen effluvium (TE) is a form of alopecia characterized by diffuse hair shedding. Vitamin D receptor (VDR) plays a role in hair cycle regulation as it is expressed in follicular keratinocytes and dermal papilla cells. PURPOSE: To investigate the association between Cdx1 and Taq1 VDR gene polymorphisms and chronic TE. METHODS: Thirty female patients with chronic TE were selected and 30 healthy, age- and sex-matched volunteers were included as a control group. Detection of VDR gene polymorphisms Taq1 and Cdx1 was done by real-time polymerase chain reaction. RESULTS: Regarding Taq 1, CC genotype was present in 30% of cases versus 3.3% of controls. TC genotype was present in 33.3% of cases and 36.7% of controls. CC genotype was significantly associated with cases (P=0.01). It increases the risk of chronic TE by 14.7 folds. C allele was significantly associated with patient group (P=0.004). It increases the risk of disease occurrence by 3.1 folds. Regarding Cdx1, AA genotype was present in 6.7% of cases versus 3.3% of controls. GA genotype was present in approximately 30% of cases and 6.7% of controls. GA genotype was significantly associated with cases (P=0.03). It increases the risk of chronic TE by 6.3 folds. A allele was significantly associated with patient group (P=0.007). It increases the risk of disease occurrence by 3.8 folds. LIMITATIONS: The main limitation is the small number of cases due to the time and financial constraints. Only chronic TE was analyzed, therefore, other types should be investigated in the following studies. CONCLUSION: After exposure to primary physical or mental stressor, hair follicles are stimulated to enter prematurely into telogen and shed out. In individuals with Taq1 and Cdx1 polymorphisms, the disease persists as a result of prevention of new anagen growth and inhibition of hair follicle stem cell proliferation.