Population Genetic Polymorphism of Skeletal Muscle Strength Related Genes in Five Ethnic Minorities in North China
TL;DR: Wang et al. as discussed by the authors selected 23 SNPs of skeletal muscle strength-related genes and analyzed the distribution of these loci and genetic diversity in the five ethnic groups in Heilongjiang province.
Abstract: Musculoskeletal performance is a complex trait influenced by environmental and genetic factors, and it has different manifestations in different populations. Heilongjiang province, located in northern China, is a multi-ethnic region with human cultures dating back to the Paleolithic Age. The Daur, Hezhen, Ewenki, Mongolian and Manchu ethnic groups in Heilongjiang province may have strong physical fitness to a certain extent. Based on the genetic characteristics of significant correlation between some important genes and skeletal muscle function, this study selected 23 SNPs of skeletal muscle strength-related genes and analyzed the distribution of these loci and genetic diversity in the five ethnic groups. Use Haploview (version 4.1) software to calculate the chi-square and the Hardy-Weinberg equilibrium to assess the difference between the two ethnic groups. Use R (version 4.0.2) software to perform principal component analysis of different ethnic groups. Use MEGA (version 7.0) software to construct the phylogenetic tree of different ethnic groups. Use POPGENE (version 1.32) software to calculate the heterozygosity and the FST values of 23 SNPs. Use Arlequin (version 3.5.2.2) software to analyze molecular variance (AMOVA) among 31 populations. The results showed that there was haplotype diversity of VDR, angiotensin-converting enzyme, ACTN3, EPO and IGF1 genes in the five ethnic groups, and there were genetic differences in the distribution of these genes in the five ethnic groups. Among them, the average gene heterozygosity (AVE_HET) of the 23 SNPs in the five populations was 0.398. The FST values of the 23 SNPs among the five ethnic groups varied from 0.0011 to 0.0137. According to the principal component analysis, the genetic distance of Daur, Mongolian and Ewenki is relatively close. According to the phylogenetic tree, the five ethnic groups are clustered together with the Asian population. These data will enrich existing genetic information of ethnic minorities.
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TL;DR: It was demonstrated that middle and upper levels of RHGS were associated with a lower risk of hypertension incidence, suggesting that RHGS may be a protective factor for hypertension.
Abstract: BACKGROUND
The present study assessed the association between relative handgrip strength (RHGS) and hypertension incidence in healthy adults.
METHODS
We performed a case-cohort study on 3784 participants from Ravansar Non-Communicable Diseases cohort study. The absolute HGS was measured using a digital dynamometer. Hypertension was defined as systolic/diastolic blood pressure ≥140/90 mm Hg and/or use of antihypertensive medications. Cox regression analysis was utilized to estimate hazard ratios of incident hypertension events with RHGS.
RESULTS
Physical activity was significantly higher in the participants with hypertension compared with nonhypertensive participants (P < .001). High-level physical activity in the subjects with lower, middle, and upper RHGS was 19.6%, 33.1%, and 47.3%, respectively (P < .001). RHGS was significantly higher in individuals with greater skeletal muscle mass (P < .001). The men and women with the upper RHGS, had an 80% (hazard ratio: 0.2; 95% confidence interval, 0.1-0.3) and 70% (hazard ratio: 0.3; 95% confidence interval, 0.1-1.2), were lower risk of hypertension compared with those with the lower RHGS, respectively. This association remains significant after adjustment for confounding factors in men.
CONCLUSION
The study demonstrated that middle and upper levels of RHGS were associated with a lower risk of hypertension incidence. RHGS may be a protective factor for hypertension. We suggested muscle strengthening exercises.
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TL;DR: The latest version of the Molecular Evolutionary Genetics Analysis (Mega) software, which contains many sophisticated methods and tools for phylogenomics and phylomedicine, has been optimized for use on 64-bit computing systems for analyzing larger datasets.
Abstract: We present the latest version of the Molecular Evolutionary Genetics Analysis (Mega) software, which contains many sophisticated methods and tools for phylogenomics and phylomedicine. In this major upgrade, Mega has been optimized for use on 64-bit computing systems for analyzing larger datasets. Researchers can now explore and analyze tens of thousands of sequences in Mega The new version also provides an advanced wizard for building timetrees and includes a new functionality to automatically predict gene duplication events in gene family trees. The 64-bit Mega is made available in two interfaces: graphical and command line. The graphical user interface (GUI) is a native Microsoft Windows application that can also be used on Mac OS X. The command line Mega is available as native applications for Windows, Linux, and Mac OS X. They are intended for use in high-throughput and scripted analysis. Both versions are available from www.megasoftware.net free of charge.
33,048 citations
TL;DR: Arlequin ver 3.0 as discussed by the authors is a software package integrating several basic and advanced methods for population genetics data analysis, like the computation of standard genetic diversity indices, the estimation of allele and haplotype frequencies, tests of departure from linkage equilibrium, departure from selective neutrality and demographic equilibrium, estimation or parameters from past population expansions, and thorough analyses of population subdivision under the AMOVA framework.
Abstract: Arlequin ver 3.0 is a software package integrating several basic and advanced methods for population genetics data analysis, like the computation of standard genetic diversity indices, the estimation of allele and haplotype frequencies, tests of departure from linkage equilibrium, departure from selective neutrality and demographic equilibrium, estimation or parameters from past population expansions, and thorough analyses of population subdivision under the AMOVA framework. Arlequin 3 introduces a completely new graphical interface written in C++, a more robust semantic analysis of input files, and two new methods: a Bayesian estimation of gametic phase from multi-locus genotypes, and an estimation of the parameters of an instantaneous spatial expansion from DNA sequence polymorphism. Arlequin can handle several data types like DNA sequences, microsatellite data, or standard multi-locus genotypes. A Windows version of the software is freely available on http://cmpg.unibe.ch/software/arlequin3.
14,271 citations
TL;DR: Haploview is a software package that provides computation of linkage disequilibrium statistics and population haplotype patterns from primary genotype data in a visually appealing and interactive interface.
Abstract: Summary: Research over the last few years has revealed significant haplotype structure in the human genome. The characterization of these patterns, particularly in the context of medical genetic association studies, is becoming a routine research activity. Haploview is a software package that provides computation of linkage disequilibrium statistics and population haplotype patterns from primary genotype data in a visually appealing and interactive interface.
Availability: http://www.broad.mit.edu/mpg/haploview/
Contact: jcbarret@broad.mit.edu
13,862 citations
TL;DR: In this paper, the relationship between the three classes of statistics (F(ST), F'(ST) and D), their estimation and their properties is discussed, and the authors illustrate the relationships between the statistics using a data set of estimates from 84 species taken from the last 4 years of Molecular Ecology.
Abstract: Although F(ST) is widely used as a measure of population structure, it has been criticized recently because of its dependency on within-population diversity. This dependency can lead to difficulties in interpretation and in the comparison of estimates among species or among loci and has led to the development of two replacement statistics, F'(ST) and D. F'(ST) is the normal F(ST) standardized by the maximum value it can obtain, given the observed within-population diversity. D uses a multiplicative partitioning of diversity, based on the effective number of alleles rather than on the expected heterozygosity. In this study, we review the relationships between the three classes of statistics (F(ST), F'(ST) and D), their estimation and their properties. We illustrate the relationships between the statistics using a data set of estimates from 84 species taken from the last 4 years of Molecular Ecology. As with F(ST), unbiased estimators are available for the two new statistics D and F'(ST). Here, we develop a new unbiased F'(ST) estimator based on G(ST), which we call G''(ST). However, F'(ST) can be calculated using any F(ST) estimator for which the maximum value can be obtained. As all three statistics have their advantages and their drawbacks, we recommend continued use of F(ST) in combination with either F'(ST) or D. In most cases, F'(ST) would be the best choice among the latter two as it is most suited for inferences of the influence of demographic processes such as genetic drift and migration on genetic population structure.
943 citations
TL;DR: This review discusses the various domains of muscle structure and function including its cytoskeletal architecture, excitation-contraction coupling, energy metabolism, and force and power generation.
Abstract: Skeletal muscle is one of the most dynamic and plastic tissues of the human body. In humans, skeletal muscle comprises approximately 40 % of total body weight and contains 50-75 % of all body proteins. In general, muscle mass depends on the balance between protein syn- thesis and degradation and both processes are sensitive to factors such as nutritional status, hormonal balance, physi- cal activity/exercise, and injury or disease, among others. In this review, we discuss the various domains of muscle structure and function including its cytoskeletal architec- ture, excitation-contraction coupling, energy metabolism, and force and power generation. We will limit the discussion to human skeletal muscle and emphasize recent scientific literature on single muscle fibers.
780 citations