C1QTNF4 gene p.His198Gln mutation is correlated with early-onset systemic lupus erythematosus in Iranian patients.

BACKGROUND: Systemic lupus erythematosus (SLE) is an autoimmune disease with multifactorial etiology. Several studies show that genetic factors have an important part in the incidence of SLE. The C1QTNF4 gene is involved in the regulation of the inflammatory pathways by pro-inflammatory function. In the present study, we have evaluated the association between C1QTNF4 gene p.His198Gln mutation and risk of SLE. METHODS: Forty SLE patients and 40 control subjects were recruited in this case-control study. Genotyping of C1QTNF4 p.His198Gln mutation was performed using real-time polymerase chain reaction high resolution melting method. RESULTS: We found a significant association between this mutation (GG + GC) with the risk of SLE (odds ratio = 6.33, 95% CI = 1.28-31.11). Furthermore, we observed that in the patient group, this mutation leads to early-onset SLE (19.7 ± 4.34 years for mutation carriers compared to 27.7 ± 11.4 years for wild type carriers; P = .003). CONCLUSION: Our results suggest that this mutation (p.His198Gln) potentially has an important role in SLE risk in the Iranian population.

Interferon-induced protein 44-like gene promoter is differentially methylated in peripheral blood mononuclear cells of systemic lupus erythematosus patients.

BACKGROUND: The objectives of this study were to compare the interferon-induced protein 44-like (IFI44L) promoter methylation level between systemic lupus erythematosus (SLE) patients and healthy controls and to evaluate its diagnostic value in SLE. MATERIALS AND METHODS: The IFI44L promoter methylation level was measured in 49 patients with SLE and 50 healthy controls. Quantitative analysis of promoter methylation IFI44L gene in genomic DNA samples extracted from peripheral blood mononuclear cells was examined in SLE patients and healthy controls. The level of DNA methylation was compared between SLE patients and healthy controls as well as within SLE patient groups based on the presence of renal involvement. Moreover, diagnostic values of IFI44L were calculated. RESULTS: The IFI44L promoter methylation level in SLE patients was significantly lower than healthy controls (median, 43.8 vs. 57, respectively; P = 0.008). The level of IFI44L promoter methylation was not significantly different between SLE patients with renal involvement and SLE patients without renal involvement (84.6% vs. 92.7%, respectively; P = 0.774). The IFI44L promoter methylation level ≤94.3% was the best cutoff point with a sensitivity of 91.8% and a specificity of 38% to distinguish patients with SLE from healthy individuals. CONCLUSION: The level of IFI44L promoter methylation from whole peripheral blood in Iranian SLE patients was significantly lower than healthy controls. Furthermore, the DNA methylation level of IFI44L promoter was not associated with renal damage in patients with SLE.

Evaluation of SEPP1 and Selenoprotein S Gene Polymorphisms (rs7579 and rs34713741) in Relation to Colorectal Cancer Susceptibility in Subset of Iranian Population: A Case-control Study.

BACKGROUND: Colorectal cancer (CRC) is rated as the second cause of cancer death worldwide. Selenium (Se) has antioxidant activity and antitumor effect, especially in colon cancer. This important role occurs through selenoproteins. Low Se intake or low plasma Se and selenoproteins concentrations are associated with higher risk of CRC. rs7579 polymorphism in 3' untranslated region of the SEPP1 gene can effect on selenocysteine incorporation during protein synthesis and also effect on microRNA -messengerRNA interaction and sequentially change in SEPP1 expression. rs34713741 polymorphism as a promoter variant in selenoprotein S (SELS) gene can effect on SElS expression and finally lead to increased CRC risk. METHODS: A case-control study using 60 CRC patients and 74 noncancerous counterparts were undertaken in order to determine rs7579 and rs34713741 genotypes using real-time polymerase chain reaction high-resolution melting method. RESULTS: We found an association of borderline statistical significance between allele A for rs7579 in SEPP1 and CRC risk (adjusted odds ratio = 1.63; confidential interval = 0.99-2.07; P = 0.05). The frequency of genotypes rs34713741 of the mentioned polymorphisms was not significantly different between case and control groups (P = 0.23 and P = 0.93, respectively). CONCLUSIONS: The results suggest that these polymorphisms probably has not a substantial role in Iranian CRC risk and is not a serious potential factor in risk assessment of mentioned disease among Iranians.

Study of association between promoter tumor necrosing factor alpha gene polymorphisms in -850T/C, -863 A/C, and endometriosis.

BACKGROUND: The purpose of this study was to determine whether variability in gene encoding for promoter of tumor necrosis factor participates to women differences in susceptibility to endometriosis. MATERIALS AND METHODS: The study involved 130 women; 65 endometriotic and 65 healthy control women. The blood samples were genotyped for -850 T/C and -863 C/A polymorphisms in TNF alpha gene promoter. Chi-square, odd ratio, and confidence interval 95% were used to evaluate genotypes and allele frequency differences between two groups. RESULTS: No significant differences in genotypes distribution of -850 T/C (P = 0.32) and 863 C/A (P = 0.34) polymorphisms were obtained between two groups. CONCLUSION: According to this study, these two polymorphisms have no risk or protective factor to develop endometriosis.