Estimation of Divergence from Hardy–Weinberg Form

Stark, Alan E.

doi:10.1017/thg.2015.41

Cited by 4 publications

(6 citation statements)

References 20 publications

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“…We tested the outcome of the performed genotyping against the Hardy-Weinberg principle;15 the observed allele and genotype frequencies of AKR1D1*36 ( Supplementary Table 1 ) and CYP2C19 polymorphisms, *2 and *17 (Supplementary Table 2) were in agreement with the expected frequencies according to the Hardy-Weinberg equilibrium. Of note, the prevalence of the AKR1D1*36 allelic variant (25.4%) in the study group was higher than the CYP2C19*2 allelic variant (19.1%), the CYP2C19*3 variant was not detected in the present cohort.…”

Section: Resultsmentioning

confidence: 99%

The AKR1D1*36 (rs1872930) Allelic Variant Is Independently Associated With Clopidogrel Treatment Outcome

Kapedanovska-Nestorovska

Dimovski

Sterjev

et al. 2019

PGPM

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AimsThe present observational cohort study evaluated the association between the AKR1D1*36 (rs1872930) allele and the risk of major adverse cardiovascular and cerebrovascular events (MACCE) in clopidogrel treated patients.MethodsWe screened 198 consecutive cardiovascular patients on clopidogrel therapy admitted in October to November 2010 with cardiovascular or cerebrovascular symptoms; of these 118 met the study protocol entry criteria; the median age of the cohort was 62.5 years (IQR 57–66 years), and 55% were females.ResultsThe median follow up time was 38.5 (IQR 24–48) months; Kaplan-Meier/Log-rank analysis showed that patients carrying the AKR1D1*36 allelic variant have a shorter event-free-survival compared to wild type patients, hazard ratio = 2.193 (95% CI, 1.091 to 4.406); p = 0.0155. Multivariable Cox regression analysis confirmed the AKR1D1*36 allele as an independent risk factor (HR = 2.36; 95% CI, 1.34 to 4.18) and identified 3 other risk factors for MACCE; previous percutaneous interventions (PCI), HR = 2.78; (95% CI, 1.34 to 5.78), and a history of myocardial infarction, HR = 2.62; (95% CI, 1.48 to 4.64) at baseline and the previously reported CYP2C19*2 polymorphism (HR = 2.33; 95% CI, 1.33 to 4.06).ConclusionThe AKR1D1*36 (rs1872930) variant is independently associated with a higher risk for MACCE and shorter event-free survival time.

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Section: Resultsmentioning

confidence: 99%

The AKR1D1*36 (rs1872930) Allelic Variant Is Independently Associated With Clopidogrel Treatment Outcome

Kapedanovska-Nestorovska

Dimovski

Sterjev

et al. 2019

PGPM

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“…The details are explained fully in Stark (4). For a fixed value of q, points within the region are given by the set of coordinates {F,f 11 ,f 01 }.…”

Section: Uu Uu Uu Ut Uu Tt Ut Uu Ut Ut Ut Tt Tt Uu Tt Ut Tt Ttmentioning

confidence: 99%

“…We require the probability that it is present in his mother. (A) The probability that II-2 transmits to III-1 the gene which he received from I-1 is ½; the probability that III-1 transmits the same gene to IV-1 is ½; the probability that I-1 transmits to II-3 a copy of the gene which went to II-2 is ½; the probability that II-3 transmits to III-2 the gene which he received from I-1 is ½; therefore the joint probability of these events is (½) 4 .…”

Section: Uu Uu Uu Ut Uu Tt Ut Uu Ut Ut Ut Tt Tt Uu Tt Ut Tt Ttmentioning

confidence: 99%

“…We have ignored the possibility that both genes of I-1 are identical by descent from an ancestor, which may be denoted by f I-1 , which contributes a factor 1+ f I-1 to the result from (A); a corresponding reasoning applies to (B), and we may take f I-2 = f I-1 . Having calculated C IV-1 III-2 = (½) 3 , this must be multiplied by ½, which is the probability that III-2 transmits the gene which she received from her father, yielding (½) 4 as the probability that the genes of IV-1 are identical by descent.…”

Section: Uu Uu Uu Ut Uu Tt Ut Uu Ut Ut Ut Tt Tt Uu Tt Ut Tt Ttmentioning

confidence: 99%

See 1 more Smart Citation

The genetic epidemiology of the form of microcephaly ascribed to mutation at the WDR62 locus

Stark

2016

Ann. Transl. Med.

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The disorder associated with mutation in the WDR62 gene MCPH2 is taken as the prototype of a condition which has a recessive mode of inheritance. The mutant homozygote has relatively lower fitness defined by the selection coefficient. Formulae which relate the incidence of the disorder to the mutation rate and the gene frequency in equilibrium when some degree of inbreeding occurs in the population are given.

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“…A schematic illustration of the admissible region is given in Figure 1. The details are explained fully in Stark & Seneta [10] and Stark [12]. For a fixed value of q, points within the region are given by the set of coordinates {F, f 11 , f 01 } .…”

Section: Identity (5) Allows For Non-random Mating (Nrm) As Well As R...mentioning

confidence: 99%

A Contribution to the Genetic Epidemiology of Structured Populations

Stark¹

2015

Int. J. Stats. Med. Res.

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A mating system, previously derived, which is more general than random mating is defined by the gene frequency q and a parameter F which measures divergence from Hardy-Weinberg proportions commonly used in genetic analysis. F can be viewed as the average coefficient of inbreeding in a population, the use emphasized here. Also it can characterize the variation in gene frequency in a stratified population. Taking q as fixed, the distribution of F over values admissible under the general mating system is derived by simulation. The mating system may be seen to be based on indifference as to choice of mates. This is the first object of the paper. The second uses the derived distribution of F to make a Bayesian estimate of F from a single sample of genotypic counts. Such an estimate has a number of uses in genetic analysis.

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Estimation of Divergence from Hardy–Weinberg Form

Cited by 4 publications

References 20 publications

<p>The <em>AKR1D1*36</em> (<em>rs1872930</em>) Allelic Variant Is Independently Associated With Clopidogrel Treatment Outcome</p>

<p>The <em>AKR1D1*36</em> (<em>rs1872930</em>) Allelic Variant Is Independently Associated With Clopidogrel Treatment Outcome</p>

The genetic epidemiology of the form of microcephaly ascribed to mutation at the WDR62 locus

A Contribution to the Genetic Epidemiology of Structured Populations

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