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  • SNPs
  • RESEARCH DESIGN AND METHODS In the Finnish Diabetic Nephropathy Study (FinnDiane) cohort, 37 tagging single nucleotide polymorphisms (SNPs) were genotyped in 2,991 individuals with type 1 diabetes and diabetic retinopathy, diabetic nephropathy, and cardiovascular disease. (diabetesjournals.org)
  • Seven SNPs were genotyped in the replication cohorts from the Steno Diabetes Center and All Ireland/Warren 3/Genetics of Kidneys in Diabetes (GoKinD) U.K. study. (diabetesjournals.org)
  • We conducted a joint analysis of 5,523,934 imputed SNPs in two newly-genotyped progressive supranuclear palsy cohorts, primarily derived from two clinical trials (Allon davunetide and NNIPPS riluzole trials in PSP) and a previously published genome-wide association study (GWAS), in total comprising 1646 cases and 10,662 controls of European ancestry. (springer.com)
  • With the availability of genome-wide genotyping technologies, a large number of single nucleotide polymorphisms (SNPs) can be considered during epistasis detection (Heidema et al. (springeropen.com)
  • The LD patterns and haplotype blocks of CYP7A1 gene were defined in Africans, Caucasians, and Asians using genotyping data downloaded from the HapMap database to select a set of haplotype-tagging SNPs (htSNP). (biomedcentral.com)
  • For example in human genetics, genome-wide association studies collect genotypes in thousands of individuals at between 200,000-5,000,000 SNPs using microarrays. (wikipedia.org)
  • trait
  • Individuals who are heterozygous for this trait appear to be intermediate in appearance and thus experience increased predation and lowered overall fitness. (wikipedia.org)
  • People who have hemoglobin E trait (heterozygous) are asymptomatic and their state does not usually result in health problems. (wikipedia.org)
  • Zygosity is the degree of similarity of the alleles for a trait in an organism. (wikipedia.org)
  • allelic
  • The next major advance in genotyping technology was the advent of the TaqMan Allelic Discrimination assay. (immh.org)
  • More generally, where a gene exists in two allelic versions (designated A and a), three combinations of alleles are possible: AA, Aa, and aa. (wikipedia.org)
  • describe
  • Its most vigorous promoter in Europe was William Bateson, who coined the terms "genetics" and "allele" to describe many of its tenets. (wikipedia.org)
  • The word "allele" is a short form of allelomorph ("other form", a word coined by William Bateson and Edith Rebecca Saunders), which was used in the early days of genetics to describe variant forms of a gene detected as different phenotypes. (wikipedia.org)
  • The words homozygous, heterozygous, and hemizygous are used to describe the genotype of a diploid organism at a single locus on the DNA. (wikipedia.org)
  • genetics
  • In this instance the genetics appears to be simple: two alleles at a single locus, producing the three phenotypes. (wikipedia.org)
  • For example, at the gene locus for the ABO blood type carbohydrate antigens in humans, classical genetics recognizes three alleles, IA, IB, and i, that determine compatibility of blood transfusions. (wikipedia.org)
  • viability
  • I assume that fitness (viability) of an individual depends on its genotype at a single diallelic locus as well as on the genotype of its mother at this locus. (genetics.org)
  • If w i,j = w i for all i,j , that is, if the fitness of an individual depends only on its own genotype, one has a classical model of "pure" viability selection. (genetics.org)
  • genotypic
  • RESULTS In a meta-analysis, the minor T allele of the exonic SNP rs17353856 in the SUV39H2 was associated with diabetic retinopathy (genotypic odds ratio 0.75, P = 1.2 × 10 −4 ). (diabetesjournals.org)
  • The HWP states the population will have the given genotypic frequencies (called Hardy-Weinberg proportions) after a single generation of random mating within the population. (wikipedia.org)
  • haplotypes
  • Genotypes measure the unordered combination of alleles at each site, whereas haplotypes are the two sequence of alleles that have been inherited together from the individuals parents. (wikipedia.org)
  • When there are N {\displaystyle N} heterozygous genotypes present in an individual's set of genotypes, there will be 2 N {\displaystyle 2^{N}} possible pairs of haplotypes that could underlie the genotypes. (wikipedia.org)
  • The SHAPEIT1 method made a major advance by introducing a linear O ( K ) {\displaystyle O(K)} complexity method that operates only on the space of haplotypes consistent with an individual's genotypes. (wikipedia.org)
  • individuals
  • Individuals with two copies of 677C (677CC) have the most common genotype. (wikipedia.org)
  • 677TT individuals (homozygous) have lower MTHFR activity than CC or CT (heterozygous) individuals. (wikipedia.org)
  • Low folate intake affects individuals with the 677TT genotype to a greater extent than those with the 677CC/CT genotypes. (wikipedia.org)
  • In Rr individuals the R allele masks the presence of the r allele, so these individuals also have round peas. (wikipedia.org)
  • The frequency of "aa" individuals would increase until the abundance of the "a" resource begins to decline. (wikipedia.org)
  • Eventually, the "AA" and "aa" genotypes would reach equilibrium with each other, with "Aa" heterozygotic individuals potentially experiencing a reduced fitness compared to those individuals who are homozygotic for utilization of either resource. (wikipedia.org)
  • equilibrium
  • XX females and XY males, as in humans], f′(a) in the heterogametic sex 'chases' f(a) in the homogametic sex of the previous generation, until an equilibrium is reached at the weighted average of the two initial frequencies. (wikipedia.org)
  • This example of underdominance is stable because any shift in equilibrium would result in selection for the rare allele due to increased resource abundance. (wikipedia.org)
  • substitution
  • The remainder of the equation, [ q ( W 2 − W 1 ) + p ( W 1 − W 0 ) ] {\displaystyle {\big [}q(W_{2}-W_{1})+p(W_{1}-W_{0}){\big ]}} , refers to the mean effect of an allele substitution. (wikipedia.org)
  • The 677T allele (leading to a valine substitution at amino acid 222) encodes a thermolabile enzyme with reduced activity. (wikipedia.org)
  • MTHFR
  • Methods and Results -To examine the potential influence of MTHFR genotype and homocysteine on coronary arteries morphologically, we screened 62 patients with 65 lesions that were treated with 93 Palmaz-Schatz stents. (ahajournals.org)
  • fixation
  • This system of underdominance allowed manipulation of the population and ultimate fixation of the constructed genotype and has potential applications in a number of settings, including agriculture and the reduction of various pest-carried diseases. (wikipedia.org)
  • significantly
  • The plasma homocysteine levels in the patients with the TT genotype were not significantly higher than those in the patients with non-TT (CC+CT) genotypes (13.1±5.5 versus 11.5±3.1 mmol/L, P =0.16). (ahajournals.org)
  • Angiographic analysis showed that the percent diameter stenosis in the patients with the TT genotype was significantly greater than that in those with non-TT genotypes (43.7±17.8% versus 29.0±22.0%, P =0.015). (ahajournals.org)
  • Intravascular ultrasound analysis showed that the TT genotype was significantly associated with greater intimal hyperplasia area (5.70±1.94 versus 3.72±1.38 mm 2 , P =0.001). (ahajournals.org)
  • In addition, the overall benefit of alleles is cut down significantly (by about half) by pleiotropy. (wikipedia.org)
  • In multiple sclerosis DQA1*0102 was the most frequent allele and DQB1*0602 increased significantly in the MS patients. (wikipedia.org)
  • single
  • An extreme case of fitness that depends entirely on the mother's genotype at a single diallelic locus was considered by W right ( 1969 , pp. 57-59) and N agylaki ( 1992 ). (genetics.org)
  • species
  • This species possesses two alleles which each confer an appearance similar to that of another local butterfly species that is toxic to its predator. (wikipedia.org)