59 Matching Annotations
  1. Oct 2024
    1. Though they have received much criticism, the advancement of statistical techniques (such as structural equation modelling) and the implementation of additional controls have allayed some of the concerns, if not all. The original twin study design has expanded to include studies of twins' extended families, longitudinal studies, and other variations. Some of these variations may allow researchers to address previous limitations also. Many molecular genetic studies have shown the usefulness of twin studies as an exploratory tool, whether or not the assumptions of equal environments and assortative mating are exactly met.

      I believe this is a good indicator we're on the right track and that as long as we stay unbiased and informed we should be good.

    2. Findings from twin studies are often misunderstood, misinterpreted, and blown out of proportion, not just by the media, but even by serious scientists who get their work published.

      Could we be doing the same thing?

    3. Though lot of changes happened in the field of genetics over time, twin studies today are also based on the same assumptions that were made back in 1920s. Many of these are deeply flawed.

      Why are so many of our studies today based on assumptions made over a century ago?

    4. Finally, as the twin registries contain longitudinal data on large samples, they can therefore be used for conventional epidemiological analyses disregarding twinship status. Several studies have been performed on the association between exposure and outcomes using the registries as a population-based cohort or as the basis for nested case-control studies. When using twin data for these types of studies, the dependency between the twins in a pair should be taken into account by using generalized linear models or other techniques.

      Not many of our articles have taken dependency into account which could be detrimental to the overall data but hopefully not by much? This could be something to mention later on

    5. If analyses with external controls show associations between exposure and disease and the relative risk remains similarly high in the within-pair (co-twin) analyses, it speaks in favor of a causal effect of the exposure on the disease. On the other hand, if the relative risk is not increased in the within-pair comparisons (but only in the first-step analyses with external comparisons), this indicates that environmental factors early in life (for example, fetal environment, maternal smoking, or childhood socioeconomic status (SES)) are responsible for the initially observed findings.

      This method is very interesting and I think is very helpful for us to know and go over

    6. The total variance in the trait can be partitioned into genetic variance, common environmental variance including shared (familial) environmental variance, and unique environmental variance.

      Its interesting that they divided up environmental variance into two categories as that could maybe lead to more accurate data?

    7. Concordance rate (CR) for a disease or trait among identical and fraternal twin pairs is actually a statistical measure of probability: If one twin has a specific trait or condition, what is the probability that the other twin has (or will develop) that same trait or disease? Historically, CRs are computed separately for monozygotic (MZ) and dizygotic (DZ) pairs. When MZ concordances are greater than DZ concordances, genetic influences are indicated.(37)

      I think CR is definitely a great measure to use and quantify the data by and I'm glad to see it in this study

    8. It is assumed that genes and the environment typically make only separate and distinct contributions to a trait. In general, it is also assumed that only one type of genetic mechanism—usually additive—operates for a particular trait. However, traits can be inherited through different genetic mechanisms. Additive genetic mechanisms mix together the effects of each allele. For example, if genes for curly hair were additive, a curly-haired father and a straight-haired mother might have a child who has wavy hair.

      There are a lot of assumptions being made and it calls to the credibility of not only this study but every study in which the genes involved are not fully understood.

    9. Some assumptions are also made in twin studies; one of them is the assumption of random mating, which assumes that people are as likely to choose partners who are different from themselves as they are to choose partners who are similar for a particular trait. If, instead, people tend to choose mates like themselves, then fraternal twins could share a greater percentage of their genes than expected. In the case of nonrandom mating, fraternal twins would have more genetically influenced traits in common than expected because the genes they receive from their mothers and fathers would be similar to each other.

      This is definitely hard to quantify or measure in any way because as humans we all have a preference in who we "mate" with and that preference is different for every person and doesn't always coincide with the most desirable traits.

    10. Furthermore, identical twins reared apart were eerily similar to identical twins reared together in various measures of personality, personal mannerisms, expressive social behavior, and occupational and leisure-time interests. However, they did not find outstanding similarities between identical twins on measures such as standardized personality tests. Still, Bouchard's findings can be interpreted as strong support for genetic influences on personality.

      This is extremely interesting and actually counteracts our data, but, personality isn't what we've been looking at so while this data is useful I don't believe it affects our paper much.

    11. Twin studies provide a strong basis for exploring the importance of any potential risk factors on a trait or condition by controlling the genetic variations. It has been one of the favorite research tools of behavioral geneticists and psychologists since long, mainly utilized to estimate the heritability of traits and to quantify the effect of a person's shared environment (family) and unique environment (the individual events that shape a life) on a trait.

      This highlights exactly why we've been using twin studies

    1. In conclusion, twin studies of children providesupport for the hypothesis that genetic factors play asignificant role in OC manifestation. Twin studies ofadults are indicative, but a large twin study using abiometrical approach with continuous data is neededto provide conclusive evidence.

      I find it interesting they didn't mention the seemingly huge impact environmental factors had on OC development and severity as it seemed to have in some cases a greater impact compared to genetics alone.

    2. cross age groups and cultures,the best fitting model indicated additive genetic influ-ences of the CBCL OCS score between 45% and 61%,and unique environmental influences between 42% and55%. Only the NTR sample aged 12 years showedshared environmental influences of 16%. Minor sexdifferences were seen in the mixed-age MOTWIN twinsonly. No evidence of dominance, sibling interaction, orrater-contrast effects was seen

      This is all huge for our point of environmental factors on twins and genetic diseases, this data is going to be very useful for us

    3. Recently Hudziak et al. (2004) examined 4246 twinpairs of the Netherlands Twin Register (NTR) and1461 twin pairs from the Missouri Twin Study Sample(MOTWIN

      These are great data-sizes but neither of these places have a significant Asian population and its likely that there were very few of asian descent if any at all. Even in Missouri the black population hovers around 10% which isn't a significant amount and likely wasn't included in a number that would be significant.

    4. For OC behavior there was sub-stantial genetic influence with a heritability estimate of65% and a 35% estimate of nonshared environment.

      Yet again there is a massive difference in heritability in similar vs different environments

    5. First, they only selected a subset of items from thePadua Inventory, reducing the ability to detect a morecomplex and stable structure and increasing errorvariance. In a cross-sectional design, error variancecannot be distinguished from individual-specific envi-ronment with an underestimation of the impact ofgenetic factors as a result. Second, the study includedonly women, so conclusions cannot be generalized tomen. Third, the data exhibited a pronounced rightskew, although similar heritability estimates were pro-duced after correction

      This is all very important to note and I want to incorporate this into our project somehow if we use this data specifically which I believe we will

    6. By using SEM, the best-fit modelsuggested heritabilities of 33% and 26% for obses-siveness and compulsiveness respectively. Uniqueenvironmental effects accounted for 67% and 74% ofthe variance

      Those are HUGE values for environmental affects and will be hugely useful in our formal project

    7. However, this approach cannot accommodate theeffect of sex on variances and covariance within andbetween twin pairs, nor can results easily be extendedto multivariate and longitudinal data

      This study is the most recent and I believe while this is important to note, this study should still be the most accurate/credible one .

    8. The heritability estimates for obsessional traitsand symptoms were 44% and 47% respectively. Noeffect of common environment was found, thus uniqueenvironment explained the remaining variation.

      These heritability statistics are much more similar than in the previous studies, indicating either more accuracy or something else?

    9. orgersenhypothesized that in our society, a possible genetic coremay perhaps be masked by the overwhelming environ-mental influence

      Its interesting to note that this may have been some of the beginning of true epigenetics as we know it today

    10. OCD is in this case viewed as the equivalent ofextreme scores on symptom or trait measures. Such adimensional approach removes the problem ofscarcity of twins with the full disease and alsoremoves the need for population-based prevalencerates for comparison

      While removing scarcity is good, there is also the question of whether this affects the data and how it does. Does this give more or less inaccurate data? This mental illness is on a sliding scale so that could be important to measure.

    11. Lastly, in population-basedsamples, the low prevalence of DSM-diagnosed OCDgenerally will lead to low statistical power to ascribethe familial clustering of OCD to either shared genesor shared environment

      Its interesting that its harder to diagnose familial clustering due to the nature of the illness itself, its harder to recognize in clusters because so many of the behaviours overlap.

    12. Although the useof DSM-III or DSM-III-R criteria reduces the risk offalse positive diagnoses, the failure to use separateinterviewers for each member of a twin pair with eachinterviewer blind to the zygosity status of the pairintroduces a large potential for inadvertent bias in thedetection of illness

      This is huge for the credibility of this study because implicit bias is real and can have a huge affect on the results/interpretation of the study. It has affects on how our group interprets the studies we're annotating and reviewing as well.

    13. In the co-twin group of the anxiety probands,two MZ twins with OCD were found but it is notclear in the article if these are concordant MZ twinsor not.

      This study, while more reliable than the last seems to have its own significant flaws

    14. When the sexes were combined, theconcordance for anxiety disorders in the probandgroup labeled ‘all anxiety disorders without generalanxiety disorder (GAD)’ was 45% in MZ pairs to15% in DZ pairs. The author concludes that geneticfactors appear to influence the development of anxietydisorders in general, with the exception of GAD

      I believe the importance of adjusting criteria cannot be understated, but we also have to ensure we are aware of the criteria of the data we use in our formal project as each of these studies use different data in reference to different genetic conditions and factors.

    15. Torgersen (1983) investigated genetic factors in thedetermination of six anxiety disorders in a study of 32MZ and 53 DZ adult same-sex twin pairs fromNorway.

      A lot of these studies are based in Europe, I'd like to see more based in Asian and African countries as well as in Native-American/Pacific-Islander Populations.

    16. Concordance rates for ‘obsessive symptoms or fea-tures with or without treatment’ were 87% for MZpairs and 47% for DZ pairs

      The non-100% and less than 50% value fo MZ and DZ twins respectively indicates a statistically significant environmental affect on OCD.

    17. The authors conclude thathead injury is a probable contributor to the develop-ment of OC neurosis in some cases

      Its important to know that environmental factors includes accidents and unforseen events. This is something that our group hasn't really thought about much

    18. The standardization of thediagnosis and higher reliability of the zygosity determi-nation diminish some limitations of the case studiesdescribed abov

      The standardization is great for these studies but without validity it brings into question if the standardization could be a downside in these studies?

    19. From the outset, however, it was recognized thatthe primary strength of this descriptive approach wasits ability to improve communication among cliniciansand researchers, not its established validity (Kupfer etal., 2002).

      This already brings into question the validity of this second study due to the unestablished validity of the DSM-3 itself, if the DSM-3 isn't fully valid then why would diagnoses from it be so?

    20. Finally, in many cases the method of zygositydetermination is unclear or there is lack of informa-tion to definitively establish monozygosity. With theselimitations in mind, no conclusions on the heritabilityof OCD can be drawn from this literature.

      I completely agree that there is little-no conclusions that can be drawn based on this data due to the numerous fallacies and inconsistencies.

    21. Parker (1964) describedtwo MZ twins discordant for OCD, attempting toillustrate with these cases that marked identificationcan still occur without both twins developing symp-toms of neurotic illness, throwing doubt on thevalidity of this purely environmental theory

      Its valuable to know that there was initial doubt cast on epigentics which at the time wasn't coined as such. It brings into question if these studies were biased in any way.

    22. This bias is caused by collecting twinsin an unsystematic way, which tends to favor MZ andconcordant pairs (Clifford et al., 1984). Anotherproblem with case studies was mentioned by Lewis(1935), who wrote that ‘a striking concordance in oneor two pairs of MZ twins proves nothing: one needs aseries and control group of fraternal twins’

      The lack of fraternal twins even farther discredits these studies and makes them even more questionable.

    23. Most studies of this era have failed to distinguishbetween OC neurosis and mixed neurosis, and showeda tendency to confuse OC neurosis with OC personal-ity or obsessive traits (Hoaken & Schnurr, 1980). Thehistory of OCD can partly explain this observation.

      The credibility of these studies are questionable at best due to the lack of mental healthcare at the time

    24. Clear defini-tions of obsessive neurosis or obsessive personalitydisorder did not exist and this is reflected in the differ-ent diagnostic information provided by the casestudies. Most studies provide insufficient clinical datato verify a diagnosis of OCD, severely hamperingjudgment on whether the subjects would meet currentstandardized diagnostic criteria

      This again calls to the incredibility of a lot of these studies due to misdiagnosis and improper treatment / studying.

    25. doption studies are generally rare,and to our knowledge no such studies have been pub-lished on OCD.

      This is a lack or gap in the data I think would be important to discuss.

    26. Family studies of OCD have suggested thatOCD is familial (Grados et al., 2003), which is not syn-onymous with heritable

      Its interesting that a psychological disorder can be familial but that doesn't mean synonymous with heritable

    27. The lifetime prevalence of OCD is estimatedbetween 0.7% and 2.5%

      This number seems low on its own but even 1% of a lifetime is huge, considering we spend roughly 33% of our lives sleeping 2.5% isn't a negligible percentage of the other 67%.

    28. Obsessive–compulsive (OC) symptoms are remarkablydiverse and the clinical presentation can vary bothwithin and across patients over time

      Studying and diagnosing psychiatric disorders is always difficult due to their wide range of criteria and different ways they can apply to each individual. We have trouble diagnosing a lot of mental illnesses on their own due to the fact that each person displays symptoms in their own way.

    29. but a large twin study using a bio-metrical approach with continuous data is still neededto provide conclusive evidence.

      A larger study is needed and thats important for us to know, we can take the data as seen but with the background knowledge that a bigger study is in order.

    30. It is concluded that only thestudies using the last method have convincinglyshown that, in children, obsessive–compulsive (OC)symptoms are heritable, with genetic influences in therange of 45% to 65%.

      Its important to recognize the failings in the data and that some criteria simply don't work for these sources.

    31. Twinstudies of OCD have a long history, starting in 1929

      This is a long time for collecting data! Over 70 years is significant

    1. Our results suggest an apparent reduction with age in the influence of genetic factors on some but not all serum lipids. The early rearing environment appears to remain important in influencing total cholesterol levels later in life but seems less important in influencing other serum lipid and apolipoprotein levels in our elderly sample.

      So there is a distinction between certain lipid serums but overall there does seem to be a correlation between environmental factors and your epigenome / serum lipid + apolipoproteins

    2. Evaluation of the estimates for cholesterol, as well as the hierarchical multiple regression analyses, suggests that there are age differences in heritability, although model-fitting analyses do not support this conclusion

      I find it interesting that there is a contradiction in the data they found and this warrants further study.

    3. However, they are consistent with normative data from Sweden and other Northern European countries

      This is an important thing to clarify as this data is taken from Northern Europe. This also brings up a key point, who were the ethnic groups that were studied? I presume mostly Northern Europeans, I think this study should be replicated for other ethnic groups to see if theres a difference between how much your epigenome is affected by your environment taking into account ethnicity.

    4. For total cholesterol, a shared rearing environment appeared to be more important among the older twins than the younger twins, and more important among women than men.

      I find it interesting that there is chance your epigenome is also affected by your sex and that it actually can affect one sex more than another on average.

    5. Because the total variances for the lipid values of the sexes also differed, we reformulated these models, basing them on intraclass correlations, which are not affected by differences in variances.

      I like that they admitted that one model didn't really work for them and that another was better but they left in why they didn't use the first model and why the second was more fitting.

    6. Most of the correlations for the younger monozygotic twins were higher than those for the older monozygotic twins, suggesting greater heritability among the younger twins. This pattern was most apparent in the triglyceride values. No consistent pattern of sex differences in the relative importance of genetic effects was apparent among the intraclass correlations.

      This even further helps prove our case that as time goes on these differences become even more apparent and even more noticeable due to environmental factors.

    7. In general, correlations for the monozygotic twins were higher than those for the dizygotic twins, indicating genetic influence. The importance of the influence of the rearing environment on levels of total cholesterol and apolipoprotein B was suggested by consistently higher correlations for the twins reared together than for those reared apart.

      This section helps further prove that there is an environmental affect on your gene expression, that yes genetics plays a factor but so does your environment. Nurture and Nature are true.

    8. A-I suggest that differences in these concentrations were sex-related.

      I think the sex correlation was expected, at least from me, usually we have different levels of almost everything in our bodies due to sex.

    9. To examine further the linearity of age effects without arbitrary categorization of the sample into cohorts, hierarchical multiple regression analyses were also performed in which the lipid levels of one twin were predicted from the levels of the other twin, as well as by terms relating to zygosity and age

      I believe the prediction model is very important to emphasize the differences as if the prediction is accurate it proves the null, while if it is inaccurate it helps reject the null.

    10. The extent to which monozygotic twins are more alike than dizygotic twins should therefore reflect genetic influences. In the classic twin method, the difference between intraclass correlations for monozygotic twins and those for dizygotic twins is doubled to estimate heritability. The remaining population variation can then be attributed to environmental factors.

      This explanation is very useful and makes it easy to understand how they went about comparing the data of two different groups.

    11. none reported taking drugs prescribed specifically to lower lipid levels.

      Relying on subject self-reporting is not always the best, if they could've gained access to relevant medical and prescription records I think it would've been better but this is sufficient

    12. the sample consisted of 46 pairs of monozygotic twins reared apart, 67 monozygotic pairs reared together, 100 dizygotic pairs reared apart, and 89 dizygotic pairs reared together.

      Sample size is a large factor in determining the ability to reject the null and while this sample size isn't the biggest, for what they're studying I believe its sufficient.

    13. The SATSA subregistry was compiled in 1984 by contacting pairs of twins identified in the registry as having been reared apart, along with matched pairs of twins who had been reared together.

      I'm glad the twins weren't forcefully or purposefully separated, as far as we know at least. The ethics remain intact for now.

    14. Although some epidemiologic studies have reported on lipid levels in the elderly,12–15 most genetic studies have focused on younger people

      I wonder why this is? Is it because the older you get the more environmental factors compound on top of each other and it makes it hard to differentiate what has been caused by what?

    15. A common criticism of twin and family studies is that they may overestimate heritability by confounding genetic and environmental factors, in that relatives living together share environments as well as genes. A more ideal design is to combine a twin study with an adoption study

      While I agree that environmental factors can confound the study, I think that its actually beneficial for them to have similar environments (at least for the purposes of our paper) because it shows that even very minor differences such as outlook (which affects stress/dopamine) can change your epigenome. I also disagree with adoption studies ethically as oftentimes these twins are deliberately separated and siblings should have the chance to grow up together.

    16. The genetic factors described to date have been mainly those involved in familial syndromes of lipid disorders, many of which are determined by single genes.

      Many of these factors being determined by single-genes makes it a lot easier to study and experiment with.

    17. The effect of genetic factors on the serum levels of some but not all lipids appears to decrease with age

      The idea that not all lipids are affected is interesting and I want to learn more