The optimal measure of allelic association

The head frame is a key component which plays a supportive and accommodative role in the spindle system of CNC machine tool. Improving the static and dynamic characteristics has profound significance to the development of machine tool and product performance. The simplified finite element modal is established with ANSYS to carry out the static and modal analysis. The results showed that the maximum deformation of the head frame was 0.0066mm, the maximum stress was 3.94Mpa, the deformation of most region was no more than 0.0007mm, which all verified that the head frame had a good stiffness and deforming resistance; several improvement measures for dynamic performance were also proposed by analyzing the mode shapes, and the 1st order natural frequency increased 7.33% while the head frame mass only increased 1.58% applying the optimal measure, which improved the dynamic characteristics of the head frame effectively.

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Association between the FTO A/T Polymorphism and Elite Athlete Status in Caucasian Swimmers

Genes ◽

10.3390/genes12050715 ◽

2021 ◽

Vol 12 (5) ◽

pp. 715

Author(s):

Piotr Zmijewski ◽

Agata Leońska-Duniec

Keyword(s):

Real Time Pcr ◽

Athletic Performance ◽

Elite Athlete ◽

International Competition ◽

Control Group ◽

Allelic Association ◽

Fto Gene ◽

Long Distance ◽

Allelic Distribution ◽

Elite Swimmers

The FTO A/T polymorphism (rs9939609) has been strongly associated with body mass-related traits in nonathletic populations, but rarely with elite athletic performance. The aim of the study was to investigate the association between the A/T polymorphism and athlete status in elite swimmers. Polish swimmers (n = 196) who competed in national and international competition at short- (SDS; 50–200 m; n = 147) and long-distance events (LDS; ≥400 m; n = 49) were recruited. The control group included 379 unrelated, sedentary young participants. The participants were all Caucasians. Genotyping was carried out using real-time PCR. It was found that the chance of being an elite swimmer was lower in carriers of the AT and AA genotype compared with TT homozygotes (1.5 and 2.0 times, respectively). These findings were confirmed in an allelic association; the A allele was less frequent in the swimmers compared with controls (p = 0.004). However, when SDS were compared against LDS, no significant differences were observed in genotypic and allelic distribution. The results of our experiment suggest that the variation within the FTO gene can affect elite athlete status. It was demonstrated that harboring the T allele may be beneficial for achieving success in a sport such as swimming.

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Mapping oligogenes for atopy and asthma by meta-analysis

Genetics and Molecular Biology ◽

10.1590/s1415-47572000000100001 ◽

2000 ◽

Vol 23 (1) ◽

pp. 1-10 ◽

Cited By ~ 9

Author(s):

A. Collins ◽

S. Ennis ◽

W. Tapper ◽

N.E. Morton

Keyword(s):

Alternative Hypothesis ◽

Rank Order ◽

Meta Analysis ◽

Genetic Effect ◽

Allelic Association ◽

Type I ◽

A Genome ◽

Significance Levels ◽

Complex Inheritance ◽

Candidate Regions

Meta-analysis is presented for published studies on linkage or allelic association that have in common only reported significance levels. Reporting is biassed, and nonsignificance is seldom quantified. Therefore meta-analysis cannot identify oligogenes within a candidate region nor establish their significance, but it defines candidate regions well. Applied to a database on atopy and asthma, candidate regions are identified on chromosomes 6, 5, 16, 11, 12, 13, 14, 7, 20, and 10, in rank order from strongest to weakest evidence. On the other hand, there is little support for chromosomes 9, 8, 18, 1, and 15 in the same rank order. The evidence from 156 publications is reviewed for each region. With reasonable type I and II errors several thousand affected sib pairs would be required to detect a locus accounting for 1/10 of the genetic effect on asthma. Identification of regions by a genome scan for linkage and allelic association requires international collaborative studies to reach the necessary sample size, using lod-based methods that specify a weakly parametric alternative hypothesis and can be combined over studies that differ in ascertainment, phenotypes, and markers. This has become the central problem in complex inheritance.

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Lack of association of the pregnane X receptor (PXR/NR1I2) gene with inflammatory bowel disease: parallel allelic association study and gene wide haplotype analysis

Gut ◽

10.1136/gut.2006.105106 ◽

2006 ◽

Vol 55 (11) ◽

pp. 1676-1677 ◽

Cited By ~ 13

Author(s):

G-T Ho ◽

N Soranzo ◽

S K Tate ◽

H Drummond ◽

E R Nimmo ◽

...

Keyword(s):

Inflammatory Bowel Disease ◽

Association Study ◽

Bowel Disease ◽

Haplotype Analysis ◽

Pregnane X Receptor ◽

Allelic Association ◽

Inflammatory Bowel

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Genetic Association and Gene-gene interaction ofHAS2,HABP1andHYAL3Implicate Hyaluronan Metabolic Genes in Glaucomatous Neurodegeneration

Disease Markers ◽

10.1155/2012/390539 ◽

2012 ◽

Vol 33 (3) ◽

pp. 145-154 ◽

Cited By ~ 3

Author(s):

Kaustuv Basu ◽

Abhijit Sen ◽

Kunal Ray ◽

Ilora Ghosh ◽

Kasturi Datta ◽

...

Keyword(s):

Open Angle Glaucoma ◽

Gene Interaction ◽

Negative Control ◽

Ocular Tissue ◽

Allelic Association ◽

Nucleotide Polymorphisms ◽

Aqueous Humor Outflow ◽

High Tension ◽

Potential Association ◽

Genotypic Association

Hyaluronan (HA) plays a significant role in maintaining aqueous humor outflow in trabecular meshwork, the primary ocular tissue involved in glaucoma. We examined potential association of the single nucleotide polymorphisms (SNPs) of the HA synthesizing gene – hyaluronan synthase 2 (HAS2), hyaluronan binding protein 1 (HABP1) and HA catabolic gene hyaluronidase 3 (HYAL3) in the primary open angle glaucoma (POAG) patients in the Indian population. Thirteen tagged SNPs (6 forHAS2, 3 forHABP1and 4 forHYAL3) were genotyped in 116 high tension (HTG), 321 non-high tension glaucoma (NHTG) samples and 96 unrelated, age-matched, glaucoma-negative, control samples. Allelic and genotypic association were analyzed by PLINK v1.04; haplotypes were identified using PHASE v2.1 and gene-gene interaction was analyzed using multifactor dimensionality reduction (MDR) v2.0. An allelic association (rs6651224;p= 0.03; OR: 0.49; 95% CI: 0.25–0.94) was observed at the second intron (C>G) ofHAS2both for NHTG and HTG. rs1057308 revealed a genotypic association (p= 0.03) at the 5’ UTR ofHAS2with only HTG. TCT haplotype (rs1805429 – rs2472614 – rs8072363) inHABP1and TTAG and TTGA (rs2285044 – rs3774753 – rs1310073 – rs1076872) inHYAL3were found to be significantly high (p< 0.05) both for HTG and NHTG compared to controls. Gene-gene interaction revealedHABP1predominantly interacts withHAS2in HTG while it associates with bothHYAL3andHAS2in NHTG. This is the first genetic evidence, albeit from a smaller study, that the natural polymorphisms in the genes involved in hyaluronan metabolism are potentially involved in glaucomatous neurodegeneration.

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Inverse Associations of Human Leukocyte Antigen and Malaria Parasite Types in Two West African Populations

Infection and Immunity ◽

10.1128/iai.73.2.953-955.2005 ◽

2005 ◽

Vol 73 (2) ◽

pp. 953-955 ◽

Cited By ~ 9

Author(s):

Karen Young ◽

Angela Frodsham ◽

Ogobara K. Doumbo ◽

Sunetra Gupta ◽

Amagana Dolo ◽

...

Keyword(s):

Infectious Disease ◽

Malaria Parasite ◽

Human Leukocyte ◽

West African ◽

Allelic Association ◽

Surprising Result ◽

Biological Mechanism ◽

Leukocyte Antigen ◽

African Populations ◽

Polygenic Diseases

ABSTRACT Differences in allelic associations between populations continue to cause difficulties in the mapping and identification of susceptibility genes for complex polygenic diseases. Although well recognized, the basis of such interpopulation differences is poorly understood. We present an example of an inverse allelic association of an immune response genotype to an infectious disease in two neighboring West African populations. In this case, both the key environmental contributor, i.e., the malaria parasite, and a major biological mechanism are well defined. We show that this surprising result fits well with the predictions of a mathematical model describing the population genetics and dynamics of this interaction.

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A study on association of polymorphisms in calpain10 and TCF7l2 genes with type 2 diabetes mellitus

Genetika ◽

10.2298/gensr1501161r ◽

2015 ◽

Vol 47 (1) ◽

pp. 161-170 ◽

Cited By ~ 1

Author(s):

Maryam Rezazadeh ◽

Nasim Sohrabifar ◽

Hossein Jafari ◽

Ardabili Mohaddes ◽

Jalal Gharesouran

Keyword(s):

Type 2 Diabetes ◽

Allelic Association ◽

Diabetic Patients ◽

Control Groups ◽

Type2 Diabetes ◽

North Of Iran ◽

Calpain 10 ◽

The Difference ◽

And Control

Polymorphisms of the Calpain10 and TCF7L2 genes were identified as possible type 2 diabetes susceptibility genetic markers. We conducted a case-control study to evaluate the relation between SNP43 of calpain-10 and rs12255372 and rs7903146 in the TCF7L2 with type2 diabetes in western-north of Iran. The role of these variants in Iranian population was less clear. A total of 202 patients and healthy controls were enrolled to analysis the frequency distribution of Calpain10 and TCF7L2 polymorphisms (SNP43, rs12255372 and rs7903146) using polymerase chain reaction-restriction fragment length polymorphism (PCR - RFLP) method. The frequency of allele A in controls was significantly greater than that of diabetic patients (P=0.031), whereas the difference between distribution of SNP43 genotypes (A/A, A/G, G/G) were non- significant in case and control groups. Non significant association was also observed between G/G, A/G or A/A genotypes and type 2 Diabetes. The frequency of the ?T? allele of rs12255372 (G/T) was significantly associated with type 2 diabetes (OR= 0.55, 95% confidence interval [CI], 1.11-1.51; P<0.001). No allelic association was found for rs7903146(C/T) polymorphism. The distribution of alleles in case and control groups are significantly different indicating the G allele is associated with type 2 diabetes. The rs12255372 (G/T) may be associated with type 2 diabetes.

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Analysis of ACE2 Genetic Variants in 131 Italian SARS-CoV-2 Positive Patients

10.21203/rs.3.rs-39011/v3 ◽

2020 ◽

Cited By ~ 1

Author(s):

Antonio Novelli ◽

Michela Biancolella ◽

Paola Borgiani ◽

Dario Cocciadiferro ◽

Vito Luigi Colona ◽

...

Keyword(s):

Genetic Variants ◽

Dna Analysis ◽

Large Family ◽

Population Data ◽

Host Susceptibility ◽

University Hospital ◽

Control Group ◽

Allelic Association ◽

Similar Frequency ◽

Whole Exome

Abstract Background: Coronaviruses (CoV) are a large family of viruses that are common in humans and many animal species. Animal coronaviruses rarely infect humans with the exceptions of the Middle East Respiratory Syndrome (MERS-CoV), the Severe Acute Respiratory Syndrome CoronaVirus (SARS-CoV), and now SARS-CoV-2, which is the cause of the ongoing pandemic of coronavirus disease 2019 (COVID-19). Several studies suggested that genetic variants in the ACE2 gene may influence the host susceptibility or resistance to SARS-CoV-2 infection according to the functional role of ACE2 in human pathophysiology. However, many of these studies have been conducted in silico based on epidemiological and population data. We therefore investigated the occurrence of ACE2 variants in a cohort of 131 Italian unrelated individuals clinically diagnosed with COVID-19 and in an Italian control population, to evaluate a possible allelic association with COVID-19, by direct DNA analysis.Methods: As a pilot study, we analyzed, by whole-exome sequencing, genetic variants of ACE2 gene in 131 DNA samples of COVID-19 patients hospitalized at Tor Vergata University Hospital and at Bambino Gesù Children’s Hospital, Rome. We used a large control group consisting of 1,000 individuals (500 males and 500 females).Results: We identified three different germline variants: one intronic c.439+4G>A and two missense c.1888G>C p.(Asp630His) and c.2158A>G p.(Asn720Asp) in a total of 131 patients with a similar frequency in male and female. Thus far, only the c.1888G>C p.(Asp630His) variant shows a statistically different frequency compared to the ethnically matched populations. Therefore, further studies are needed in larger cohorts, since it was found only in one heterozygous COVID-19 patient.Conclusions: Our results suggest that there is no strong evidence, in our cohort, of consistent association of ACE2 variants with COVID-19 severity. We might speculate that rare susceptibility/resistant alleles could be located in the non-coding regions of the ACE2 gene, known to play a role in regulation of the gene activity.

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