ASSOCIATION BETWEEN HIGH MOBILITY GROUP BOX 1 PROTEIN GENE (rs41369348) POLYMORPHISM AND IMMUNOGLOBULIN A VASCULITIS IN CHILDREN.

Immunoglobulin A vasculitis (IgAV) or Henoch-Schönlein purpura is the most prevalent systemic small vessel vasculitis in childhood. High mobility group box 1 protein (HMBG1) is a pleiotropic cytokine that functions as a pro-inflammatory signal, important for the activation of antigen-presenting cells and propagation of inflammation. HMGB1 is implicated in the pathophysiology of a variety of inflammatory diseases. The aim of this study was to investigate the role of single nucleotide polymorphism rs41369348 for HMGB1 gene in the susceptibility and clinical features of patients meeting the classification criteria for IgAV. DNA was extracted from blood cells of 76 children with IgAV and 150 age-matched healthy controls. Clinical data and laboratory parameters were collected for all IgAV patients. Although there was a higher frequency of heterozygous A/delA genotype of this gene polymorphism in IgAV group as compared with control group, no genotype difference was observed between these two groups. No statistically significant genotype differences were disclosed when patients with different IgAV clinical features were compared. In conclusion, in this study, polymorphism rs41369348 for HMGB1 was not associated with increased susceptibility to childhood IgAV, its severity or different clinical manifestations.

Progesterone receptor genetic variants in pregnant women and fetuses as possible predictors of spontaneous premature birth: A preliminary case-control study.

AIM: To evaluate the roles of four selected genetic variations in fetal and maternal progesterone receptor gene (PGR) and to identify women who may have higher or lower odds for spontaneous premature birth compared to the general population. METHODS: A preliminary case-control study with two groups of pregnant women (with term and premature delivery, 218 in total) and two groups of newborns (term and preterm, 218 in total) was performed. Four single nucleotide polymorphisms (SNPs) of the progesterone receptor gene (rs1042838, rs1042839, rs10895068, and rs1942836) were genotyped. RESULTS: There was statistically significant difference between cases and controls in the distribution of newborns' allele frequency of minor C allele of the PGR SNP rs1942836 (p = 0.03, Fishers' exact test) in favor of premature birth. A statistically significant difference between the frequency of the mothers' minor T allele of rs1042838 (p = 0.005; chi-squared test) and the mothers' minor T allele of rs1042839 (p = 0.005; chi-squared test) in favor of extremely premature birth has been found. There was a statistically significant difference between the frequency of the newborns' minor C allele of rs1942836 (p = 0.03; chi-squared test) and newborns' heterozygotes CT genotype of rs1942836 (p = 0.03; Fishers' exact test) when comparing the group of term births and the group of early premature birth. CONCLUSION: Our study suggests that patients with selected genetic variants of the progesterone receptor gene could have greater odds for premature birth compared to term birth. Replication studies with a larger population and different ethnicity are needed in order to confirm these findings.