HIF-1α and NFIA-AS2 Polymorphisms as Potential Determinants of Total Hemoglobin Mass in Endurance Athletes

Abstract

Malczewska-Lenczowska, J, Orysiak, J, Majorczyk, E, Sitkowski, D, Starczewski, M, and Żmijewski, P. HIF-1α and NFIA-AS2 polymorphisms as potential determinants of total hemoglobin mass in endurance athletes. J Strength Cond Res 36(6): 1596–1604, 2022—The aims of this study were to examine (1) the genotype distribution of rs11549465:C>T of the HIF-1α gene and rs1572312:C>A of the NFIA-AS2 gene; (2) the association between the genes and hematological status in endurance-oriented athletes; and (3) the association between the NFIA-AS2 gene and aerobic capacity in cyclists. Two hundred thirty-eight well-trained athletes (female n = 90, male n = 148) participated in the study. Total hemoglobin mass (tHbmass), blood morphology, intravascular volumes, i.e., erythrocyte volume (EV), blood volume (BV) and plasma volume (PV), and aerobic capacity indices, e.g., peak oxygen uptake (V̇o2peak), and power at anaerobic threshold (PAT) were determined. In both studied genes, the CC genotype was predominant. In the HIF-1α gene, there were no differences in genotype and allele distribution among athletes from different disciplines and between sexes. The distribution of genotypes and alleles of the NFIA-AS2 gene differed significantly in male athletes; the frequency of A allele carriers (CA + AA) was significantly higher in cyclists than in rowers and middle- and long-distance runners. The athletes with CC genotype of NF1A-AS2 had significantly higher relative values of: tHbmass (total female athletes, cyclists), PV, BV (cyclists), and EV (total male athletes, cyclists) and PAT (cyclists) than A allele carriers (CA + AA genotypes). In conclusion, our study indicates that NFIA-AS2 rs1572312:C>A polymorphism was associated with hematological status in endurance athletes, as well as aerobic capacity indices in male cyclists. It suggests that this polymorphism may be a determinant of quantity of hemoglobin and intrtavascular volumes, which in turn can have an impact on aerobic performance.

The molecular athlete: exercise physiology from mechanisms to medals

“…Specific SNPs in the HFE, NFIA-AS2 (nuclear factor I A antisense RNA 2), and TSHR (thyroid stimulating hormone receptor) genes that are more frequently observed in elite endurance athletes compared with controls have also been associated with high among athletes ( 727 – 729 ). Additionally, athletes with homozygous C alleles of NFIA-AS2, encoding a long noncoding RNA, have improved hematologic parameters such as higher Hb levels, since NFIA-AS2 may be involved in the regulation of the transcription factor NFIA and erythropoiesis ( 727 , 728 ). However, even if a combination of GWAS and selected physiological measures in elite athletes may help identify SNPs for various genes, data including such measures are limited and so far these candidates have not been replicated ( 722 ).…”

Hemoglobin Analysis After Overload Training in Athletes

“…RDW, HDW and MCV had no significant correlation with hemoglobin, meanwhile, HDW had certain correlation with MCH, MCHC, Ret, MCVr (P<0.01), and MCV also had certain correlation with MCH and MCVr (P<0.01);There was no significant correlation between serum Fe, RDW and hemoglobin concentration and other related indexes. 9,10 Using the dendrogram of the average connection (between groups) to readjust the distance clustering and merging, the analysis results show that if the 10 red blood cell-related indicators are divided into 3 categories, the first category is MCHC, CHCMr, MCH and Fer; the second category is MCHC, CHCMr, MCH and Fer; The categories are RDW, serum iron and HDW; the third category is MCV, MCVr and RETIC.…”

Molecular biomarkers for assessing the heat-adapted phenotype: a narrative scoping review

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