The Roles of Reduced Folate Carrier-1 (RFC1) A80G (rs1051266) Polymorphism in Congenital Heart Disease: A Meta-Analysis

Abstract

Background We performed the present study to better elucidate the correlation of reduced folate carrier-1 (RFC1) A80G (rs1051266) polymorphism with the risk of congenital heart disease (CHD). Material/Methods According to the designed search strategy, a systematic literature search was performed through the PubMed, Cochrane Library, Web of Science, EMBASE, CNKI, VIP, and Wan Fang databases to collect published case-control studies on the correlation between RFC1 A80G polymorphism and CHD. All relevant studies up to October 1, 2019 were identified. The odds ratio (OR) and 95% confidence interval (CI) of the genotype distribution were used as the effect indicators. Results A total of 6 eligible studies was finally included in our meta-analysis, including 724 children with CHD, 760 healthy children, 258 mothers of the children with CHD, and 334 mothers of healthy control children. The meta-analysis revealed that for fetal analysis, only in the heterozygous model (GA vs GG, OR=1.36, 95% CI [1.06, 1.75], P =0.02) was RFC1 A80G polymorphism associated with risk of CHD. In maternal analysis, 3 genetic models of RFC1 A80G polymorphism increased the risk of CHD: the allelic model (A vs G, OR=1.36, 95% CI [1.07, 1.71], P =0.01), the homozygote model (AA vs GG, OR=2.99, 95%CI [1.06, 8.41], P =0.04), and the dominance model (GA+AA vs GG, OR=1.53, 95%CI [1.08, 2.16], P =0.02). Conclusions The maternal RFC1 A80G polymorphism has a strong correlation with CHD. Compared with the G allele, the A allele increases the risk of CHD by 0.36-fold.

Genetic Variants in Folate and Cobalamin Metabolism-Related Genes in Pregnant Women of a Homogeneous Spanish Population: The Need for Revisiting the Current Vitamin Supplementation Strategies

“…SLC19A1 gene encodes a typical transporter with 12 transmembrane domains involved in the active transport of 5-methyltetrahydrofolate from plasma to the cytosol and regulation of intracellular folate concentration. It may limit the absorption of folic acid by the developing foetus, thus affecting the growth of the foetus [56]. In the current study, we did not observe an association between the studies SPNs of these genes and pregnancy or newborn complications.…”

Folate gene polymorphisms CBS 844ins68 and RFC1 A80G and risk of Down syndrome offspring in young Iranian women: A cross-sectional study

“…The polymorphism A80G (rs1051266) is the most prevalent variant in the RFC1 gene replacing the amino acid histidine with arginine in the exon-2 and decreasing the plasma levels of folate and homocysteine. A positive association between A80G and DS was documented in different populations (6).…”

Relationship Between RFC Gene Variants (Rs1051266) and Clinical Features of Severe Intraventricular Hemorrhage in Preterm Infants

“…Складність діагностики різних клінічних форм бронхітів обумовлена тим, що їх клініка має певну кількість подібних симптомів, незважаючи на те, що ці захворюван-ня можуть бути пов'язані з різними формами в класифікації. Діагностика також нерідко ускладнюється через схильність дітей раннього віку до повторних респіраторних захворювань, які часто маркірують формування затяжного та рецидивуючого перебігу захворювання [4,7,9,10].…”