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Abstract
Abstract Carbamoyl phosphate synthetase 1 (CPS1) is a key gene in the first step of urea cycle and has been correlated with nitric oxide level and vascular smooth muscle activity. A functional single-nucleotide polymorphism C/A at position 4217 in CPS1 (National Center for Biotechnology Information SNP database no. rs7422339, T1405N) was reported to be associated with high homocysteine (Hcy) plasma values. Although genetic variants of methylenetetrahydrofolate reductase (MTHFR) gene are known to influence Hcy concentration, other genetic determinants of Hcy remain largely unknown. The association between the CPS1 rs7422339 and the risk of hyperhomocysteinemia in Latin American populations is unknown. Here, we study this association in 100 patients having hyperhomocysteinemia without MTHFR c.677C>T polymorphism and 100 controls. CPS1 rs7422339 was studied using polymerase chain reaction and enzymatic restriction. Comparisons of the CPS1 rs7422339 genotype distributions revealed a significant difference between groups (P = 2.3 × 10−3). Patients carrying polymorphic allele showed almost 3 times higher risk (odds ratio [OR] = 2.47) of hyperhomocysteinemia than wild-type allele, suggesting that rs7422339 SNP is associated with high Hcy levels in the Argentine population.
Highlights
Homocysteine (Hcy) is a nonprotein-forming sulfur amino acid produced during the catabolism of methionine
The patients were selected according to the following criteria: (i) over 18 years old, (ii) high levels of Hcy in plasma considering normal fasting values
DNA samples from patients and controls were genotyped for rs7422339 SNP using polymerase chain reaction (PCR) and enzymatic restriction assay
Summary
Homocysteine (Hcy) is a nonprotein-forming sulfur amino acid produced during the catabolism of methionine. The small amount of Hcy found in plasma is the result of a cellular export mechanism that complements the remethylation and transsulfuration pathways in maintaining low intracellular concentration of this potentially cytotoxic and pro-oxidant amino acid.[1,2,3] Plasma Hcy levels are influenced by genetic as well as environmental factors, such as age, sex, smoking status, intake of folate, and B vitamins. Rare homozygous defects in genes encoding for enzymes of Hcy metabolism, as cystationine b synthase (CBS) and methylenetetrahydrofolate reductase (MTHFR), lead to dramatically increased Hcy concentration and premature occlusive vascular disease.[1] few common polymorphisms have been unequivocally associated with Hcy concentration.
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