THE GSTP1 c.313A>G POLYMORPHISM MODULATES THE CARDIORESPIRATORY RESPONSE TO AEROBIC TRAINING

The GSTP1 c.313A>G polymorphism is a candidate to explain some of the individual differences in cardiorespiratory fitness phenotypes’ responses to aerobic exercise training. We aim to explore the association between the GSTP1 c.313A>G polymorphism and the response to low-high impact aerobic exercise training. Sixty-six Polish Caucasian women were genotyped for the GSTP1 c.313A>G polymorphism; 62 of them completed 12-week aerobic (50-75% HR_max) exercise training and were measured for selected somatic features (body mass and BMI) and cardiorespiratory fitness indices – maximal oxygen uptake (VO_2max, maximum heart rate (HR_max), maximum ventilation (V_Emax) and anaerobic threshold (AT) – before and after the training period. Two-factor analysis of variance revealed a main training effect for body mass reduction (p=0.007) and BMI reduction (p=0.013), improvements of absolute and relative VO_2max (both p<0.001), and increased V_Emax (p=0.005), but not for changes in fat-free mass (FFM) (p=0.162). However, a significant training x GSTP1 c.313A>G interaction was found only for FFM (p=0.042), absolute and relative VO_2max (p=0.029 and p=0.026), and V_Emax (p=0.005). As the result of training, significantly greater improvements in VO_2max, V_Emax and FFM were gained by the GG+GA group compared to the AA genotype group. The results support the hypothesis that heterogeneity in individual response to training stimuli is at least in part determined by genetics, and GSTP1 c.313A>G may be considered as one (of what appear to be many) target polymorphisms to influence these changes.     

THE ASSOCIATION OF GENE POLYMORPHISMS WITH ATHLETE STATUS IN UKRAINIANS

Athletic performance is a polygenic trait influenced by both environmental and genetic factors.

Objective

To investigate individually and in combination the association of common gene polymorphisms with athlete status in Ukrainians.

Methods

A total of 210 elite Ukrainian athletes (100 endurance-oriented and 110 power-orientated athletes) and 326 controls were genotyped for ACE I/D, HIF1A Pro582Ser, NOS3 –786 T/C, PPARA intron 7 G/C, PPARG Pro12Ala and PPARGC1B Ala203Pro gene polymorphisms, most of which were previously reported to be associated with athlete status or related intermediate phenotypes in different populations.

Results

Power-oriented athletes exhibited an increased frequency of the HIF1A Ser (16.1 vs. 9.4%, P = 0.034) and NOS3 T alleles (78.3 vs. 66.2%, P = 0.0019) in comparison with controls. Additionally, we found that the frequency of the PPARG Ala allele was significantly higher in power-oriented athletes compared with the endurance-oriented athletes (24.7 vs. 13.5%; P = 0.0076). Next, we determined the total genotype score (TGS, from the accumulated combination of the three polymorphisms, with a maximum value of 100 for the theoretically optimal polygenic score) in athletes and controls. The mean TGS was significantly higher in power-oriented athletes (39.1 ± 2.3 vs. 32.6 ± 1.5; P = 0.0142) than in controls.

Conclusions

We found that the HIF1A Ser, NOS3 T and PPARG Ala alleles were associated with power athlete status in Ukrainians.     

The first report described as an important study: The association of mannose-binding lectin gene 2 polymorphisms in children with Down syndrome

BACKGROUND:

Mannose-binding lectin gene 2 (MBL2) plays a very important role in the first line of host immune response in Down syndrome (DS). The importance of MBL2 gene polymorphisms in children with DS is unclear, and no research has addressed MBL2 gene polymorphisms in patients with DS. This is the first report describing an important association between MBL2 gene polymorphisms and infections in children with DS.

MATERIALS AND METHODS:

We compared the frequency of single-nucleotide polymorphisms (SNPs) at two codons of the MBL2 gene in a cross sectional cohort of 166 children with DS and 229 controls. Polymorphisms at codons 54 (GGC→GAC) and 57 (GGA→GAA) in exon 1 of the MBL2 gene were typed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) technique using the restriction enzymes BshN1 (derivated from Bacillus sphaericus) and MboII (derivated from Moraxella bovis), respectively.

RESULTS:

MBL2 codon 54 GA genotype frequency was found to be lower in patients with DS (22.9%) than those of healthy controls (35.8%), differences were statistically significant (OR = 0.532, 95% CI = 0.339-0.836, P = 0.008). On the other hand, codon 57 polymorphism in the MBL2 gene was detected in none of the DS patients, but only one person in the control group showed codon 57 GA genotype (OR = 1.004, 95% CI = 0.996-1.013, P = 1.000).

CONCLUSION:

Our data provides an evidence for the first time that a homozygote or heterozygote for the variant, MBL2 alleles, is not associated with infections in patients with DS, and do not influence the incidence of infections.     

Effects of marked chromosome sections on milk performance in cattle

Summary The investigations of paternal half sibs start with the assumption that the transfer of an allele from a father to an offspring also indicates the inheritance of a distinct section of two homologous chromosomes from the father concerned. With the help of 20 gene systems, the transfers of single chromosome sections were marked and tested with regard to influences on milk performance traits. 1,457 German Friesian cattle, registered as daughters of three sires, were used. Some of the chromosome sections showed significant effects on the traits considered. Since especially those chromosomes which bear genes for milk proteins were involved, it was assumed that groups of linked loci influence the genetic variance of milk production. Possibilities for applying the results to the practical breeding situation and their significance are discussed.     

运动能力相关基因的先天遗传与后天转移

对人体生理特性的研究结果显示,部分运动相关基因如α-肌动蛋白-3、血管紧张素I转换酶、Ⅱ型活化素受体B的基因多态性会明显影响运动员的运动天赋和体能。建立优秀运动员基因库,发现和鉴定可影响运动能力的基因变异体,使得在儿童中开展DNA测试,挑选适合某种特殊体育项目的运动天才和优化训练方法具有一定现实操作意义。另一方面,随着滥用基因技术以提高运动能力的可能性不断提高,部分基因有可能作为基因兴奋剂,通过基因转移的方法导入人体,其所涉及的伦理问题、对人类健康及社会的潜在危害等,已经引起了来自自然科学和社会科学不同领域的广泛关注。     

Perspectives on functional genomics

As the first assembly of the human genome was announced on June 26, 2000, we have entered post genome era. The genome sequence represents a new starting point for science and medicine with possible impact on research across the life sciences. In this review I tried to offer brief summaries of history and progress of the Human Genome Project and two major challenges ahead, functional genomics and DNA sequence variation research.     

Gene polymorphisms of SFTPB rs7316, rs9752 and PAOX rs1046175 affect the diagnostic value of plasma Pro-SFTPB and DAS in Chinese Han non–small-cell lung cancer patients

Plasma pro-surfactant protein B (pro-SFTPB) and N1,N12-diacetylspermine (DAS) can be used as markers for the diagnosis of non–small-cell lung carcinoma (NSCLC). Whether the genetic diversity affects the application value of Pro-SFTPB and DAS as a diagnostic marker for NSCLC is still unknown. This study aims to explore the relationship between SFTPB rs7316, rs9752 and PAOX rs1046175 gene polymorphisms and the diagnostic value of plasma Pro-SFTPB and DAS in patients with Chinese Han lung cancer. SFTPB rs7316, rs9752 and PAOX rs1046175 genotypes were analyzed by direct sequencing in 425 patients with NSCLC and 425 controls, and the levels of Pro-SFTPB and DAS in plasma were determined by enzyme-linked immunosorbent assay (ELISA). The area under the curve (AUC) of the SFTPB rs7316 locus TT genotype for the diagnosis of NSCLC was 0.758, and the AUC of the TC/CC genotype for the diagnosis of NSCLC was 0.872. The AUC of the SFTPB rs9752 locus GG genotype for the diagnosis of NSCLC was 0.935, and the AUC of the GC/CC genotype for the diagnosis of NSCLC was 0.648. The AUC of the PAOX rs1046175 locus GG for the diagnosis of NSCLC was 0.669, and the AUC of the GC/CC genotype for the diagnosis of NSCLC was 0.749. In conclusion, SFTPB rs7316, rs9752, and PAOX rs1046175 gene polymorphisms affect the diagnostic value of plasma Pro-SFTPB and DAS in patients with Chinese Han NSCLC.     

The Complete Mitochondrial Genome Sequence and Characterization of Single-Nucleotide Polymorphisms in the Control Region of the Asian Seabass (Lates calcarifer)

We determined the complete mtDNA nucleotide sequence of Lates calcarifer using the shotgun sequencing method. The mitochondrial DNA (mtDNA) was 16,535 base pairs (bp) in length, and contained 13 protein coding genes, 22 transfer RNAs, 2 ribosomal RNAs, and one major noncoding control region (CR). The CR was unusually short at only 768 bp. A striking feature of the mitochondrial genome was the high G+C content (46.1%), which is among the highest in fish. The gene order was identical to that of a typical vertebrate. Phylogenetic analyses using concatenated amino acid sequences of 12 protein-coding genes of 30 fish species representing 14 suborders clearly showed Lates calcarifer was located in the cluster of fish species from the order Perciformes, supporting the traditional systematic classification. We characterized single-nucleotide polymorphisms (SNPs) in the CR by sequencing the complete CR of 25 individuals obtained from Australia and Singapore. A total of 68 SNPs were detected. Eighteen SNPs were fixed with alternative nucleotides in Australian and Singapore seabass, and these SNPs could be used for differentiating fish from the two countries.     

Identification of Four SNPs in LHB Gene and Their Associations with Sperm Qualities of Chinese Buffaloes

Luteinizing hormone beta polypeptide (LHB) gene has been considered important for sexual behavior and has associations with sperm quality. In this study, four SNPs (g.276?T>C, g.377A>C, g.401T>C, and g.412A>G) were detected in the LHB gene of 165 water buffaloes by direct sequencing and identification of overlap peaks, each of which was associated with at least one sperm quality trait of ejaculate volume, sperm concentration, post-thaw sperm motilities, and sperm abnormalities by chi-square analysis. Among them, g.276?T>C was associated with ejaculate volume (F?=?2.857, p?C was related to ejaculate volume (F?=?4.178, p?C had a marker effect on sperm abnormalities (F?=?3.332, p?G was associated with sperm concentration (F?=?3.579, p?LHB gene and Chinese water buffalo sperm quality traits. To the best of our knowledge, this is the first report addressing the associations between the SNPs in the LHB gene and the sperm qualities of Chinese buffaloes.     

Single nucleotide polymorphisms of Helicobacter pylori dupA that lead to premature stop codons

Background: The detection of the putative disease‐specific Helicobacter pylori marker duodenal ulcer promoting gene A (dupA) is currently based on PCR detection of jhp0917 and jhp0918 that form the gene. However, mutations that lead to premature stop codons that split off the dupA leading to truncated products cannot be evaluated by PCR. Methods: We directly sequence the complete dupA of 75 dupA‐positive strains of H. pylori isolated from patients with gastritis (n = 26), duodenal ulcer (n = 29), and gastric carcinoma (n = 20), to search for frame‐shifting mutations that lead to stop codon. Results: Thirty‐four strains had single nucleotide mutations in dupA that lead to premature stop codon creating smaller products than the predicted 1839 bp product and, for this reason, were considered as dupA‐negative. Intact dupA was more frequently observed in strains isolated from duodenal ulcer patients (65.5%) than in patients with gastritis only (46.2%) or with gastric carcinoma (50%). In logistic analysis, the presence of the intact dupA independently associated with duodenal ulcer (OR = 5.06; 95% CI = 1.22–20.96, p = .02). Conclusion: We propose the primer walking methodology as a simple technique to sequence the gene. When we considered as dupA‐positive only those strains that carry dupA gene without premature stop codons, the gene was associated with duodenal ulcer and, therefore, can be used as a marker for this disease in our population.     

Analysis of immunoglobulin light chain loci in sheep

A sheep kappa cDNA probe was isolated, characterized by sequence analysis and shown to have significant sequence identity to other kappa light chains. This probe and a sheep lambda light chain probe were used to estimate the extent of various sheep immunoglobulin light chain gene loci by Southern blot analysis of genomic DNA. The results showed that the sheep has a single hybridizing kappa constant gene and three to five kappa V segment bands. Segregation of three polymorphic bands at the lambda C locus indicated that they were products of separate C segments. Restriction fragment pattern variations were obtained using light chain probes on various sheep breeds, but no pattern or individual band was characteristic for a particular breed.     

The use of fine-wire EMG to investigate shoulder muscle recruitment patterns during cello bowing: The results of a pilot study

The physical mechanics of music making is important both in the prevention of injuries and in guiding how music is performed and taught. Electromyography has potential as a resource in understanding the loads involved in instrumental playing; however, only a small number of projects have been undertaken, and little is understood on the muscle activity used during bowing on string instruments. This study aimed to measure the muscle activity at the bowing shoulder of a cellist during cello playing and to establish if fine-wire EMG is useful in understanding muscle recruitment in string players without interfering with normal playing ability. This project used a combination of fine-wire and surface EMG to evaluate the muscular load placed on the right shoulder of a professional cellist whilst playing a set of various bowing exercises. The results indicated that different bowing techniques produced statistically different muscle activity levels, with the supraspinatus muscle in particular maintaining higher mean contraction (20% MVC) during all bowing patterns tested. Fine-wire EMG was useful in measuring shoulder muscle load and did not interfere with normal playing technique of the subject. Overall, the study presents a working protocol from which future studies may be able conduct further research.