Variation in the HIF1A gene in elite rowers.

The transcription factor hypoxia-inducible factor 1 (HIF1) is one of the key regulators of cellular metabolism. The aim of this study was to analyze the possible importance of the HIF1A Pro582Ser polymorphisms in rowing. One hundred twenty-seven male Polish rowers (both former and current competitors) were recruited for this study.

Distribution of the AMPD1 C34T polymorphism in Polish power-oriented athletes.

The aims of this study were to determine the distribution of the AMPD1 genotype among groups of high-level Polish power-oriented athletes, and to investigate potential associations between genetic polymorphism in exon 2 of the AMPD1 gene and power-oriented athlete status. Altogether, 158 male Polish power-oriented athletes were genotyped by PCR-RFLP. The genetic control group comprised 160 unrelated male volunteers.

Association of the ACTN3 R577X Polymorphism in Polish Power-Orientated Athletes.

Alpha-actinins are an ancient family of actin-binding proteins that play structural and regulatory roles in cytoskeletal organization. In skeletal muscle, α-actinin-3 protein is an important structural component of the Z disc, where it anchors actin thin filaments, helping to maintain the myofibrillar array. A common nonsense polymorphism in codon 577 of the ACTN3 gene (R577X) results in α-actinin-3 deficiency in XX homozygotes.

The distribution of human endogenous retrovirus K-113 in health and autoimmune diseases in Poland.

Objective: During the evolution of the human genome, a number of retroviral integrations have occurred creating a group of human endogenous retroviruses (HERVs). As of now several studies have pointed to the association of HERVs with certain autoimmune diseases such as RA, SLE, multiple sclerosis (MS) and SS as well as various neoplasms. In this study, we investigated the prevalence of HERV-K113 in patients with RA, SLE and in healthy subjects in the Polish population.