A common haplotype and the Pro582Ser polymorphism of the hypoxia-inducible factor-1α (HIF1A) gene in elite endurance athletes

2010 ◽  
Vol 108 (6) ◽  
pp. 1497-1500 ◽  
Author(s):  
Frank Döring ◽  
Simone Onur ◽  
Alexandra Fischer ◽  
Marcel R. Boulay ◽  
Louis Pérusse ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Oxygen Uptake ◽  
Maximal Oxygen Uptake ◽  
Hypoxia Inducible Factor ◽  
Haplotype Frequency ◽  
Endurance Athletes ◽  
Common Haplotype ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Hif1a Gene

Hypoxia-inducible factor-1α ( HIF1A) is a transcription factor regulating several genes in response to hypoxic stimuli. HIF1A target genes code for proteins involved in oxygen transport, glycolytic enzymes, and glucose transporters. We investigated whether single-nucleotide polymorphisms and haplotypes in the HIF1A gene are associated with endurance performance in the Genathlete cohort, which includes 316 Caucasian male elite endurance athletes (EEA) with a maximal oxygen uptake of 79.0 ± 3.5 ml·kg−1·min−1 (mean ± SD) and 304 Caucasian male sedentary controls with a maximal oxygen uptake of 40.1 ± 7.0 ml·kg−1·min−1. Six single-nucleotide polymorphisms (rs1951795, rs11158358, rs2301113, rs11549465, rs115494657, rs17099207) were genotyped with the TaqMan system. We found a nominal significant tendency for a difference between the two groups for HIF1A Pro582Ser (rs11549465) genotype distributions ( P χ2 = 0.017). Homozygotes of the Pro genotype were slightly more frequent in athletes than in controls (84 vs. 75%). Compared with Ser carriers, the odds ratio (OR) of being an EEA in Pro/Pro homozygotes was 1.77 [95% confidence interval (CI): 1.18–2.67, P = 0.006] compared with the other genotypes. A common HIF1A haplotype (frequency: 15%), including the rs11549465 Pro allele and the minor A allele of rs17099207 in the 3′ flanking region of the gene, showed a significant association with EEA status (OR: 2.37, 95% CI: 1.21–4.66, P = 0.012), whereas the most prevalent haplotype (frequency: 59%) comprising the rs11549465 Pro allele and the major G allele of rs1709920 showed no association with EEA status (OR: 0.93, 95% CI: 0.58–1.50, P = 0.769). We found preliminary evidence that the HIF1A Pro582Ser polymorphism and a common haplotype of the HIF1A gene may be associated with EEA status in Caucasian men.

scholarly journals No Association between Single Nucleotide Polymorphisms (SNPs) of the Interferon-Induced Transmembrane Protein 3 (IFITM3) Gene and the Susceptibility of Alzheimer’s Disease (AD)

Medicina ◽  
2021 ◽  
Vol 58 (1) ◽  
pp. 55
Author(s):  
Sae-Young Won ◽  
Yong-Chan Kim ◽  
Byung-Hoon Jeong
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Single Nucleotide Polymorphisms ◽  
Neurodegenerative Disorder ◽  
Transmembrane Protein ◽  
Haplotype Frequency ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Frequency Distributions ◽  
First Case

Background and Objectives: Alzheimer’s disease (AD) is the most common progressive neurodegenerative disorder, characterized by the accumulation of amyloid-beta (Aβ) in the brain. A recent study reported that the interferon-induced transmembrane protein 3 (IFITM3) protein plays a pivotal role in Aβ processing by the γ-secretase complex. Since several single nucleotide polymorphisms (SNPs) of the IFITM3 gene are related to the function and expression levels of the IFITM3 gene, the relationship between genetic polymorphisms in the IFITM3 gene and susceptibility to AD needs to be investigated. Materials and Methods: We investigated the genotype and allele frequencies of IFITM3 polymorphisms in 177 AD patients and 233 matched healthy controls by amplicon sequencing. In addition, we compared the genotype, allele and haplotype frequencies between AD patients and matched controls and performed an association analysis. Results: There were no significant differences in the genotype, allele or haplotype frequency distributions of the IFITM3 polymorphisms between AD patients and matched controls. Conclusions: To the best of our knowledge, this is the first case-control association study of the IFITM3 gene in AD.

Single Nucleotide Polymorphisms in Carnosinase Genes (CNDP1 and CNDP2) are Associated With Power Athletic Status

2017 ◽  
Vol 27 (6) ◽  
pp. 533-542 ◽  
Author(s):  
João Paulo Limongi França Guilherme ◽  
Antonio Herbert Lancha
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Endurance Athletes ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Athletic Status ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
Minor Alleles ◽  
Representative Cohort

Carnosine (β-alanyl-L-histidine), abundantly found in skeletal muscle, plays an important role during exercise, especially for high-intensity contractions. Variability in muscle carnosine content between individuals exists and may also be explained by different genetic bases, although no study has addressed the association of polymorphisms in genes related to carnosine metabolism in athletes. This study aimed to investigate the frequency of single nucleotide polymorphisms (SNPs) in the carnosinase genes (CNDP1 and CNDP2) in a large Brazilian cohort of athletes and nonathletes. Eight SNPs were compared between a representative cohort of elite athletes from Brazil (n = 908) and a paired group of nonathletes (n = 967). The athletes were stratified into three groups: endurance (n = 328), power (n = 415), and combat (n = 165). The CNDP2 rs6566810 (A/A genotype) is overrepresented in endurance athletes, but only in international-level endurance athletes. Three SNPs (CNDP2 rs3764509, CNDP2-CNDP1 rs2346061, and CNDP1 rs2887) were overrepresented in power athletes compared with nonathletes. Carriers of the minor allele had an increased odds ratio of being a power athlete. For the rs2346061, no significant difference was observed in genotype frequencies between power and combat sports athletes, but for rs2887 the power and combat groups showed an inverse genotype distribution. In conclusion, we found that minor alleles carriers for CNDP2 rs3764509 (G-allele), CNDP2-CNDP1 rs2346061 (C-allele), and CNDP1 rs2887 (A-allele) are more likely to be a power athlete. These polymorphisms may be novel genetic markers for power athletes. Furthermore, these results are suggestive of a distinct CNDP genotype for sporting development.

scholarly journals Hypoxia-inducible factor: analysis of the HIF1A and HIF1B single nucleotide polymorphisms and their functional role in development of uterine fibroids

2020 ◽  
pp. 49-51
Author(s):  
Е.М. Барышева ◽  
С.М. Зайцев ◽  
Н.В. Горяинова ◽  
Л.А. Пономарева ◽  
О.Б. Полшведкина ◽  
...  
Keyword(s):  
Factor Analysis ◽  
Single Nucleotide Polymorphisms ◽  
Protective Effect ◽  
Functional Role ◽  
Molecular Mechanisms ◽  
Hypoxia Inducible Factor ◽  
Uterine Fibroids ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

В исследование были включены 584 пациентки с миомой матки и 391 женщина контрольной группы. Генотипирование однонуклеотидных полиморфизмов (SNP) генов HIF1A и HIF1B (rs2301106, rs2301113, rs1951695, rs2057482, rs4899056 HIF1A и rs3738493, rs10847 HIF1B) было проведено методом ПЦР в режиме реального времени. Выявлен протективный эффект rs10847 HIF1B относительно риска развития миомы матки (OR=0,78, 95%CI=0,63-0,95; p=0,016). Обсуждаются молекулярные механизмы связи rs10847 HIF1B с патогенезом миомы матки. A total of 584 patients with uterine fibroids and 391 healthy controls were recruited for the study. Genotyping of single nucleotide polymorphisms (SNPs) of the HIF1A and HIF1B genes (rs2301106, rs2301113, rs1951695, rs2057482, rs4899056 HIF1A and rs3738493, rs10847 HIF1B) was performed using real-time PCR). The protective effect of rs10847 HIF1B against the risk of uterine fibroids was revealed (OR=0.78, 95%CI=0.63-0.95; P=0.016). The molecular mechanisms of the involvement of rs10847 HIF1B to the pathogenesis of uterine fibroids are discussed.

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