Search

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 SEPP 1 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.

Background: Familial hypercholesterolemia (FH) is a disorder that is inherited by autosomal dominant pattern. The main cause of FH disease is the occurrence of mutations in low-density lipoprotein receptor (LDLR) gene sequence, as well as apolipoprotein B and proprotein convertase subtilisin/kexin type 9 genes, located in the next ranks, respectively. Materials and Methods: Forty-five unrelated Iranian patients with FH were screened using a high-resolution melting (HRM) method for exon 9 along with intron/exon boundaries of LDLR gene. Samples with shift in resultant HRM curves were compared to normal ones, sequenced, and analyzed. Results: Our findings revealed a missense mutation c. 1246C>T and a known variant IVS9-30C>T (rs1003723) that was recognized in 71% of the patients (22%: homozygous and 49%: heterozygous genotypes). In silico analysis, predicted the pathological effect of the c. 1246C>T mutation in LDLR protein structure, but IVS9-30C>T variant had no predicted effect on splice site and branch point function. Conclusion: FH is a hereditary type of hypercholesterolemia that leads to premature cardiovascular disease and atherosclerosis, and early diagnosis is needed. We detected a rare missense mutation (1246C>T) and a common single nucleotide polymorphism (SNP) in the Iranian population. These reports could help in the genetic diagnosis and counseling of FH patients.

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 SEPP 1 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., Competing Interests: There are no conflicts of interest.

Background: Familial hypercholesterolemia (FH) is a disorder that is inherited by autosomal dominant pattern. The main cause of FH disease is the occurrence of mutations in low-density lipoprotein receptor (LDLR) gene sequence, as well as apolipoprotein B and proprotein convertase subtilisin/kexin type 9 genes, located in the next ranks, respectively., Materials and Methods: Forty-five unrelated Iranian patients with FH were screened using a high-resolution melting (HRM) method for exon 9 along with intron/exon boundaries of LDLR gene. Samples with shift in resultant HRM curves were compared to normal ones, sequenced, and analyzed., Results: Our findings revealed a missense mutation c. 1246C>T and a known variant IVS9-30C>T (rs1003723) that was recognized in 71% of the patients (22%: homozygous and 49%: heterozygous genotypes). In silico analysis, predicted the pathological effect of the c. 1246C>T mutation in LDLR protein structure, but IVS9-30C>T variant had no predicted effect on splice site and branch point function., Conclusion: FH is a hereditary type of hypercholesterolemia that leads to premature cardiovascular disease and atherosclerosis, and early diagnosis is needed. We detected a rare missense mutation (1246C>T) and a common single nucleotide polymorphism (SNP) in the Iranian population. These reports could help in the genetic diagnosis and counseling of FH patients., Competing Interests: There are no conflicts of interest.