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RFC1
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Replication factor C subunit 1 (Activator 1 140 kDa subunit) (A1 140 kDa subunit) (Activator 1 large subunit) (Activator 1 subunit 1) (DNA-binding protein PO-GA) (Replication factor C 140 kDa subunit) (RF-C 140 kDa subunit) (RFC140) (Replication factor C large subunit) [RFC140] ==Publications== {{medline-entry |title=Associations of polymorphisms of folate cycle enzymes and risk of breast cancer in a Brazilian population are age dependent. |pubmed-url=https://pubmed.ncbi.nlm.nih.gov/22134752 |abstract=Polymorphisms in genes involved in folate metabolism have been shown to be implicated in breast cancer risk but with contradictory results. In this case-control study, we investigated the association between [[MTHFR]] C677T and A1298C, [[TYMS]] 5'-UTR, [[MTR]] A2756G and cSHMT C1420T and also the folate carrier ([[RFC1]] G80A) and breast cancer risk in a northeastern Brazilian population. The study included 183 women diagnosed with breast cancer and 183 controls volunteers without any history of cancer. Also a significant number of healthy individuals were included for allelic frequency in the population studied. Risk of breast cancer was estimated by conditional logistic regression. An association with risk was found for women carrying the [[MTR]] A2756G polymorphic allele (AG, P = 0.0036; AG/GG, P = 0.0040), and a protective effect in carriers of the [[RFC1]] G80A polymorphic allele (GA, P = 0.0015; AA, P = 0.0042). Stratifying the data by age (cutoff point of 50 years old), different distributions were observed for breast cancer risk. For women ≤50 years, the risk observed in the presence of the polymorphic allele [[MTR]] 2756 (AG/GG) in the general analysis was, restricted to this age group (P = 0.0118). Conversely, for women over 50, the risk of breast cancer development was statistically associated with the [[MTHFR]] 677CT genotype, but especially significant was risk associated with the presence of the polymorphic allele of cSHMT C1420T (P = 0.0120) and the protective effect associated with the [[RFC1]] G80A polymorphism allele (P = 0.0021), was restrict to this age group. These data indicate that the cutoff age used (50 years old) was appropriate, since it was able to discriminate risk in each age group in the population studied and also to point to the importance of age in the analyses of cancer-associated polymorphisms. |mesh-terms=* 5' Untranslated Regions * Adult * Aged * Aging * Brazil * Breast Neoplasms * Female * Folic Acid * Gene Frequency * Genetic Association Studies * Genetic Predisposition to Disease * Genetics, Population * Humans * Middle Aged * Neoplasm Staging * Polymerase Chain Reaction * Polymorphism, Single Nucleotide * Risk Factors |full-text-url=https://sci-hub.do/10.1007/s11033-011-1285-1 }} {{medline-entry |title=Association of [[RFC1]] A80G and [[MTHFR]] C677T polymorphisms with Alzheimer's disease. |pubmed-url=https://pubmed.ncbi.nlm.nih.gov/18258338 |abstract=We examined polymorphisms in reduced folate carrier gene ([[RFC1]]) and methylenetetrahydrofolate reductase gene ([[MTHFR]]) for association with sporadic AD (SAD) in Chinese population. Significant associations of [[RFC1]] A80G G allele and GG genotype with SAD (p=0.008, OR=1.312, 95%CI=1.072-1.605, and p=0.042, OR=1.383, 95%CI=1.012-1.890) were found. Further stratification of total samples by [[APOE]] epsilon4 carrier status, age/age at onset and gender revealed that [[RFC1]] A80G G allele was an [[APOE]] epsilon4-independent risk factor for late-onset AD, and it might increase the risk of AD in females. No significant associations of [[MTHFR]] C677T allele and genotype with AD were observed in total samples, but significant associations of T allele and TT genotype with AD (p=0.031, OR=1.586, 95%CI=1.042-2.414, and p=0.028, OR=2.250, 95%CI=1.074-4.712) were identified in [[APOE]] epsilon4 carrier subgroup, suggesting that [[MTHFR]] 677 T allele and [[APOE]] epsilon4 allele may synergistically act to increase AD risk. No significant effect of [[RFC1]] G80A and [[MTHFR]] C677T polymorphisms on plasma folate and homocysteine levels was detected. |mesh-terms=* Aged * Aged, 80 and over * Aging * Alzheimer Disease * Apolipoprotein E4 * China * Female * Folic Acid * Genetic Predisposition to Disease * Genome-Wide Association Study * Genotype * Homocysteine * Humans * Male * Methylenetetrahydrofolate Reductase (NADPH2) * Middle Aged * Polymorphism, Single Nucleotide * Reduced Folate Carrier Protein * Risk Factors * Sex Factors |full-text-url=https://sci-hub.do/10.1016/j.neurobiolaging.2007.12.010 }} {{medline-entry |title=Evaluation of nutritional and genetic determinants of total homocysteine, methylmalonic acid and S-adenosylmethionine/S-adenosylhomocysteine values in Brazilian childbearing-age women. |pubmed-url=https://pubmed.ncbi.nlm.nih.gov/18023275 |abstract=Cobalamin (Cbl) and folate deficiencies and gene polymorphism of key enzymes or carriers can impair homocysteine metabolism and may change the serum values of S-adenosylmethionine (SAM) and S-adenosylhomocysteine (SAH). We investigated the nutritional and genetic determinants for total homocysteine (tHcy), methylmalonic acid (MMA) and SAM/SAH in healthy Brazilian childbearing-age women. Serum concentrations of Cbl, folate, red blood cell folate, ferritin, tHcy, MMA, SAM, SAH and other metabolites were measured in 102 healthy unrelated women. The genotypes for [[MTHFR]] C677T, [[MTHFR]] A1298C, [[MTR]] A2756G, [[MTR]]R A66G, TC2 C776G, TC2 A67G and [[RFC1]] A80G gene polymorphisms were identified by PCR-RFLP. Serum folate and Cbl were inversely correlated with tHcy and serum MMA, respectively. Cbl deficiency was associated with increased MMA and reduced alpha-aminobutyrate, serine and N-methylglycine concentrations. No variable was associated with SAM/SAH ratio. In addition, gene polymorphisms were not selected as determinants for tHcy, MMA and SAM/SAH ratio. Iron, Cbl and folate deficiencies were found respectively in 30.4%, 22.5% and 2.0% of individuals studied. There was a high frequency of Cbl and iron deficiency in this group of childbearing-age women. Serum folate and Cbl were the determinants of serum tHcy and MMA concentration, respectively. |mesh-terms=* Adult * Aging * Alleles * Anemia, Iron-Deficiency * Avitaminosis * Brazil * Female * Genotype * Homocysteine * Humans * Methylmalonic Acid * Nutritional Physiological Phenomena * Polymorphism, Genetic * Reproduction * S-Adenosylhomocysteine * S-Adenosylmethionine * Vitamin B 12 * Vitamins |full-text-url=https://sci-hub.do/10.1016/j.cca.2007.10.023 }}
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