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Comment by r0ze-at-hn | Hacker News Reader

And there is so much still to uncover. Just the other day I was going through Neanderthal DNA during lunch and noticed that three of the four existing DNA samples show that they were carriers for the rs6467 form of Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency.

Neanderthals were highly inbred and had low population numbers. Being a carrier of this form of CAH would have absolutely kept the population numbers low all by itself as getting two copies would have been nonviable. Further Neanderthals are most known for contributing to human specific DNA sets such as improved immune system. Here we have something that even in the non classic form is havoc with the HPA-Axis and give incredible evolutionary pressure to resolve, one way is to simply dramatically improve the immune system.

As far as I can tell this hasn't been written about before. Lots of stuff like this will be noticed and or figured out in the decades ahead.

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IMO the next big thing - if anyone ever has the stones to propose it - is going to be the reclassification of many archaic human species as subspecies of Homo sapiens. The difference between humans and known neanderthal samples is barely more than the genetic diversity within extant humans. The more data we get, the more archaic humans in general look like small morphological variations of the hairless monkeys we see now. I think the taxonomy we have is the result of prestige-seeking behavior more so than actual science.

Human geneticists are cult-like in their commitment to never explicitly interpreting findings, however unambiguous the evidence is, in a way that could potentially have a remote chance of being used as fuel for discrimination.

For example you can spend your career mapping hundreds of small-effect variants linked to intelligence or phenotypes that lead to increased likelihood of certain behaviours.

You can even publish a study showing that people who carry a certain gene variant and experienced childhood neglect have “increased risk of committing severe, impulsive, violent recidivist crimes”, and that the variant is more prevalent in prison populations than the general public in a certain region.

You can also publish a population genetics study showing that humans have relatively easily computed genetic structure (see: 23andMe ancestry) because countless alleles are practically fixed in certain populations relative to others due to selection or founder effects, or are prevalent enough that if you have a segment of your genome with enough of them them you must have had an ancestor from a certain region.

What you can’t do is combine these concepts into any uncomfortable findings when it comes to humans.

Which uncomfortable findings are you referring to?

Apparently, they’re also hard to plainly state on an anonymous forum as well. Weird.

That confusing cause and effect would not be proper science? Just guessing.

I'm not sure?

I think it's even deeper than confusing cause and effect.

I mean, maybe I'm missing some information, but the comment says:

a study showing that people who carry a certain gene variant and experienced childhood neglect have “increased risk of committing severe, impulsive, violent recidivist crimes”

The potential fundamental error there is the whole multiple independent variable thing. The study was likely designed from the outset without regard to the fundamentals of the scientific method. Which is a bigger issue than just confusing cause and effect. It gives other scientists a suspicion that the people doing the study aren't even aware of the potential confounding nature of the design?

The people doing the study will of course call the "snobbish" scientists "anti-racists" for pointing these things out. But scientists are neither "racist" nor "anti-racist". The conclusions follow from the data via the scientific method, or the conclusions don't follow. A good scientist will not presume, a priori, what the conclusions are. In this instance, scientists can be forgiven for concluding that the findings don't follow.

Scientists are better described as Scientific Method Fundamentalists. If they believe in anything, it is the scientific method. Everything else? Well, yeah, you will need to convince them. The good news is you can do that, but you have to use the scientific method to do so. If you don't, they rightfully dismiss you out of hand.

I think the people who push these studies are misunderstanding the dismissal of their "findings" as antagonism to their conclusions. And on the other side, there are probably scientists who are not even bothering to explain the nature of their problem to them. There's probably a sense of, "It's a waste of time to talk to them", on both sides.

>> The study was likely designed from the outset without regard to the fundamentals of the scientific method.

Oh yeah, you will definitely need to assume that!

That alleles linked to cognition and behaviour are no less likely (unless fatal or impacting reproduction) to be found at observably different frequencies between populations than the ones used to create an ancestry report. Presumably because racists would ignore all the mediating environmental factors or vastly misrepresent the proportion of variance explained by a given genotype.

Looking for intelligence differences between people of different skin color makes as much sense as looking for intelligence differences between tall and short people. You seem to believe in distinct "races" as a genetic concept, whereas all I see in the data is correlations with place-of-collection. The more people you sample from, the more any clustering will literally start looking like a physical map of the world.

So, what would you say about looking for intelligence differences between people of different ancestry?

We know quite well that some traits are concentrated in a single place or two: marathon winners come disproportionately from the Rift Valley in Kenya, sickle cell disease is mostly a West African trait and Tay-Sachs disease is concentrated among the Ashkenazim.

Few people dispute the above. The really controversial question is whether there are any such differences from the neck up, so to say.

If any such differences exist it would be, at a population level, two highly overlapping normal distributions with slightly different means, well within a standard deviation. In other words, the differences within each population would be much greater than between the populations. Therefore you still have to treat people as individuals because the ancestry provides little signal. So then why is there so much interest among skeptical, contrarian, anti-woke, scientific racism types on this question?

The only way of knowing whether such differences are big or small (or whether they exist at all) is by performing a scientific analysis.

To insist that nobody should look into it because what they might find could upset you is just bizarre.

"If any such differences exist it would be, at a population level, two highly overlapping normal distributions with slightly different means, well within a standard deviation."

Overlapping normal distribution, yes, but slightly different means, well within a standard deviation seems to be overconfident.

"Therefore you still have to treat people as individuals because the ancestry provides little signal."

No contest here.

"So then why is there so much interest among skeptical, contrarian, anti-woke, scientific racism types on this question?"

Because the difference at the extremes would be significant, and would explain overrepresentation and underrepresentation of certain groups among, say, top scientists.

The competing hypothesis, which explains differences among groups by discrimination and/or poverty, doesn't fully explain why heavily persecuted groups such as Jewish or Vietnamese refugees still manage an academic rebound within a generation or so of arriving into safety, even though they are still targeted by racial hatred. Taken globally or even just in the US, the correlation between academic success and persecution/power status is weak enough that it makes people doubt the "discrimination/poverty" explanation and motivates them to seek alternatives.

> two highly overlapping normal distributions with slightly different means

It depends if we talk about means or tail ends. The GP post referred to marathon runners, presumably winning marathon runners, even within the Rift Valley in Kenya don't get selected from the mean of the population but from the tail-end. So, while there isn't much of a difference for means between runners in Albania and Kenya, when we look at tail end we might find very large differences.

Same thing for any case where is a selection process. If you have any "top-X" selection involved, then looking at means is a bit more confusing.

> Therefore you still have to treat people as individuals because the ancestry provides little signal

Hmm, I don't see here people anyone arguing not treating people as individuals. Of course we have to treat people as individuals. But not sure how that contradicts looking a distribution of traits, features, disease markers, etc.

If the point of the research isn't to create non-individualistic racist policies or to tear down affirmative action policies on the basis of "it's wasted effort" then what's the goal? If we could identify some genetic marker that increased the probability by a few percentage points of identifying intellectual marathon runners would that justify discriminating to favor them at the expense of others? Many dystopian scifi stories start from a similar premise.

> If the point of the research isn't to create non-individualistic racist policies or to tear down affirmative action policies on the basis of "it's wasted effort" then what's the goal?

Maybe you're arguing for or against some point the GP poster made. I was mainly saying relying on means in the particular example doesn't seem to work. I was helping you out! If you wanted to refute GP's point you could have said, "here marathon runners statistics doesn't quite apply".

Yeah I know "the means are closer to each other than the standard deviation" is the "standard" (pun intended) thing that high school and college kids get about difference between men vs women and other population characteristics and you're trying to make a very good point, but it just doesn't always apply and sometimes repeating it when it doesn't apply, instead of convincing people, could end up confusing them.

I’ve said nothing of the sort. I’m also well aware of the concept of admixture and that dimensionality reduction methods like PCA and MDS with enough samples mirror geography. I also know that the variants contributing the most to the X and Y axes of such analyses are the ones with a high FST, because unsurprisingly prior to a few hundred years ago people didn’t move around that much and were subject to different genetic bottlenecks and selection pressures. And most alleles are rare, so when one is fixed between populations it’s generally informative from an ancestry standpoint even if non-coding.

Your reflexive dismissal of something that’s not only factual but wouldn’t be controversial about any vertebrate except humans is exactly what I was alluding to.

> That alleles linked to cognition and behaviour are no less likely (unless fatal or impacting reproduction) to be found at observably different frequencies between populations than the ones used to create an ancestry report.

I though ancestry reports were regarded as unreliable to the point of meaninglessness because the genes used were not sufficiently strong indicators of population?

> Presumably because racists would ignore all the mediating environmental factors or vastly misrepresent the proportion of variance explained by a given genotype.

Not discussing something because people can misrepresent it is a bad idea. it is both wrong, and has the opposite effect to that intended because it lends credibility to claims of cover up.

I would posit that whoever is saying they’re unreliable has an agenda. Are they 100% accurate in the sense of being able to determine whether you’re 6.2 vs 6.3% Italian? No, there’s always a small degree of uncertainty as more genomes are sequenced and reference panels are updated, but at this point unless you’re from an isolated tribe in the Amazon or some incredibly niche case they’re very representative.

Most people don’t necessarily understand recombination and that if three of your grandparents are Danish and one of your grandparents is, Italian, then you are going to be on average 25% Italian… but that it’s also a distribution centred around 25%. By luck of the draw you could be 3% or you could be 45% Italian genome-wise. People might base their identity on being 1/4 this or 1/8 that, and be upset when an ancestry report gives the actual %.

The problem is that most genes are mixed over very wide areas. List of published research on the consequences https://www.ucl.ac.uk/biosciences/understanding-genetic-ance...

You can see this by looking at genes with observable consequences such as lactose tolerance. While there are multiple genes for this AFAIK, the commonest is spread over a huge area.

Something as specific as "Danish" or "Italian" genes looks illusory.

The data are public! Why don't you show it?

This was old news decades ago[0] but people don’t want to hear it.

0: https://en.m.wikipedia.org/wiki/Mainstream_Science_on_Intell... an editorial written to tell the public that this is not some shocking, fringe claim. You can follow links from the page for the full text.

Thanks for that link. The Wikipedia article you referenced says "This view is now considered discredited by mainstream science."

There are still papers being written about how those analyses were flawed: https://www.pnas.org/doi/abs/10.1073/pnas.2319496121

Which is a hilarious fact in itself.

A common refrain among non religious people is that religion is false, self contradictory, or something similar.

And yet the large overlap between these people and anti-racists cannot face the evidence that evolution applies to humans, and that genetic differences can have measurable effects. This becomes a core tenent of their (un)beliefs, that somehow we are all equal in construction, AND that evolution is real. Two completely incompatible beliefs (or concepts, if you can't stand such a word).

Prevalence of the MAOA gene is quite interesting indeed.

To expand upon that a bit, one deeply held belief is that Racism is wrong, not just morally but factually, that we are all exactly equal in nature. That our only differences come from nurture. The other belief (or "non-skeptically accepted prospect") is that humanity has evolved, first from africa, then in disparate populations spread over the entire land area of the earth, being subject to many varied natural environments and thus selections. Such natural selections MUST select for different traits, often wildly different. Such traits cannot be contained to "skin color only" a meaningless, arbitrary restriction.

> To expand upon that a bit, one deeply held belief is that Racism is wrong, not just morally but factually, that we are all exactly equal in nature.

I’m not sure how “racism is bad” requires the idea that “we are all equal by nature”.

“Racism is bad” means that the law should treat us equally and that you should not treat people differently based solely on their skin color.

You're referring to the normal and reasonable view, but I think most are targeting this weird new(ish) concept, heavily intertwined into politics, that any and all differences between groups are due to biases or other environmental factors.

So if you see that e.g. one group is lagging behind in math then that is taken at face value as evidence that 'math is racist.' A search for that exact phrase will turn up a million hits, pushed by some very big entities, if you want to go down this rabbit hole.

But if you don't already know about this stuff - just don't. The amount of stupidity and transparent divide+conquer politics in it all is just nauseating.

On the other hand it does have contemporary relevance as a lot of the funding for this stuff is being scrapped, and it's nice to understand what we're 'losing.'

I’ve read a few of those “math is racist” takes and I feel a lot of them make decent points about why math education is lacking in the US.

But the ties to racism do seem inane and more to do with outrage culture becoming the norm after the social media explosion. It’s unfortunate.

There'd be no hilarity whatsoever if people discriminated against you based on something they said you could not change.

Anyone doing actual science cannot determine whether you are worth hiring based on your DNA - all they can do is point to some correlations which don't tell them about you individually. It is quite possible for such research to be discredited in future by other studies.

It's not even well defined what are all the characteristics that make a good "X" to then discriminate about because people of all kinds end up doing things we didn't expect them to be able to. What is intelligence and how many ways are there of measuring it and what kind does a certain job require anyhow?

So it is factually and morally wrong to discriminate on DNA. It might be pointless to say this though, as I notice that to convert a prejudiced person into an anti-racist all you have to do is make them think they're being discriminated against.

The fact that it’s morally wrong (and IMHO objectively evil) does not mean that it wouldn’t be an efficient policy purely from a strict utilitarian angle. Assuming we could actually identify the genetic markers that signal a higher likelihood of preferable traits even if on the whole it would only be e.g. 80% accurate that might still be useful. Individual outliers could just be ignored at minimal cost.

Of course it would be inefficient because it is an extreme oversimplification of what is desirable (which is arguable) and whether or not certain markers would achieve it.

The big mistake that racists and bigots make is in overvaluing whatever they think their own strengths are and undervaluing strengths they don't have.

True. But there are some “low hanging fruits” e.g. if not outright eradicating then at least significantly reducing the prevalence of congenital diseases.

Of course giving the government the right to prevent some individuals from having children is an extremely slippery slope. States that are willing and capable of engaging in such things e.g. ( Communist China back in the 70s ) also tend to be run by extremely misguided and delusional people.

We already test for things like Downs Syndrome which doesn't mean that we stop pregnancy but it tells the parents what to expect.

Since we can do gene therapy to some degree already I imagine we'll fix things that are already known health problems for an individual.

Eventually other things will become possible, including modifications that are not about health. That's where dragons be. We'll at least need rules about modifications that aren't 99% understood and "guaranteed" to do what is wanted. We will also want to ensure some level of genetic diversity - not allowing everyone to make their kids blue eyed.

In the absence of any other information about an applicant whatsoever, DNA evidence can give you strong likelihoods and useful correlations for many possible outcomes.

If I was to take this to the logical end, you can bar any bananas, lizards, dogs, or other non humans by simply looking at their DNA and having no other applicant specific information.

To bring this back to the more mundane, even the BBC is covering whether genes impact your likelihood to have certain hobbies. We are not going to discover that genes impact our lives LESS as we dig into the human genome more. To proclaim by personal fiat that people will never figure out how to productively (and for personal/corporate gain) filter by DNA is simply wrong.

This is similar to the idea that criminals with 20 previous felonies can be given any punishment besides life in prison or death. It is really super easy to predict the future of any such criminal let loose. A 90% chance of a 21st felony and yet another ruined or ended life.

[1] https://www.bbc.com/future/article/20230509-how-genetics-det...

>This becomes a core tenent of their (un)beliefs, that somehow we are all equal in construction, AND that evolution is real.

This is a strawman of the real understanding that humans, as a species, have extremely low genetic diversity. Along with that, variations within a population are larger than variations between populations. In addition, there are countless confounding factors that play a larger role. Lastly, teasing out actual cause and effect is incredibly difficult. “Anti-racist” scientists simply understand to not take simplistic, reductive interpretations and jump to conclusions trying to get easy answers to complex situations.

> within a population are larger than variations between populations

That doesn’t really change anything, though. That low variance still might allow (and well.. obviously does) enough space for significant genetics differences (that impact everything ranging from physical properties to intelligence) between individuals or subgroups to manifest themselves.

In theory we could certainly produce a “breed” of extremely physically fit “super-humans”. Same probably applies to other traits. Not that anyone should be ever allowed under any circumstances to try something like that.

With modern understanding of genetics eugenics would be more or less scientifically sound on paper (of course a dystopian society which regulates human breeding would be a horrible place to exist in even if it was made up of objectively “genetically superior” individuals)

Exactly. A single base pair out of 3 billion can cause blonde hair, sickle cell, dwarfism, and a million other things that aren’t necessarily even negative. People from two different continents differing at hundreds of thousands of sites in addition to millions of within-population variants says nothing about phenotypic differences.

Screening for Down syndrome is an example of modern eugenics.

It's less hilarious when whole country policies are made on those assumptions thus ruining it economically (notably), and voicing any concerns is threatened with legal force.

In France the official dogma of the educated is that every difference is cultural, and races don't exist. My father for example strongly held and defend those beliefs. Somehow he gets very angry when I ask why there is wide academic achievement difference between his children despite growing in the same environment, or how Japanese people could instantly guess I'm a foreigner while not uttering a single words. I think that deep down all those people know the truth but they don't want to admit it, nor admit it to other for fear of the social consequences.

> why there is wide academic achievement difference between his children despite growing in the same environment

Why are there wide academic achievement differences between children who have the same "race" who grow up in the same environment? According to you, this should not be the case.

> how Japanese people could instantly guess I'm a foreigner while not uttering a single words

Do you think they can do so for any given person? I guarantee you there are foreign people who Japanese people don't guess are foreign, and non-foreign people who Japanese people guess are foreign. How can this be?

I can sympathize with your father getting angry. Considering how trivial it is to come up with counter arguments, it must be frustrating to have this brought up more than once.

For the education example, the answer is quite simple: Sexual reproduction produces varied offspring even among the same two mates.

Same environment, different genes = educational performance gap.

> races don't exist

Do they exist in a scientifically viable way?

Most of the definitions around race are tied to a subjective view of a person’s physical appearance.

Is Obama (the son of a black Kenyan man and a white American woman) black or white? If neither, what is this new race to be called? Would he be a different race if his father was also mixed race?

I find that often times asking people this question leads us back to something akin to the one-drop rule and I don’t see any value in that.

> If neither, what is this new race to be called? Would he be a different race if his father was also mixed race?

American racists had precise, and now-offensive nomenclature for rations all the way down to 1/8 black, possibly beyond. https://www.pbs.org/wgbh/pages/frontline/shows/jefferson/mix...

This [1] discussion on X includes a gene prevalence graph, showing varied groups mostly easily identifiable by DNA sequencing. Such graphs use the prevalence of 2 genes amongst different samples of populations. Including more genes develops a much sharper image.

https://x.com/JoshRainerGold/status/1888468962306142430

> Somehow he gets very angry when I ask why there is wide academic achievement difference between his children despite growing in the same environment

Wait, I thought your argument is that intelligence this is genetic - what then explains the variation among siblings, according to your worldview?

Punnet squares explains this, siblings are not usually identical.

> have “increased risk of committing severe, impulsive, violent recidivist crimes”, and that the variant is more prevalent in prison populations than the general public

If your goal is to show that the gene variant causes violence, you probably need to compare violent vs nonviolent prison populations, not prison populations vs general public. We already know that there are aspects of genetics that affect likelihood of being imprisoned, all else being equal.

For most, it's a simple defense mechanism.

Some topics are more likely to attract assholes than others. If you don't want to be drawn into a political debate with assholes, you don't study those topics. Better to study something that can be studied without being forced to make a political stand.

That would not happen in the ideal world, where people try to avoid misinterpreting and overgeneralizing results. But controversial topics always attract people acting in bad faith. Even most of those acting in good faith are unused to the level of precision and pedantry required to make justified conclusions from data.

They always assume their race (or gender) will end up on top - probably just coincidence! I always wonder what they'll say about research that turns out otherwise.

Race as we culturally define it (which varies significantly over time and location) doesn't respresent differences in fact, but rather the things that are most obvious to our perception - e.g., skin color. There's no coincidence that what we see most easily - skin color - is somehow a strong indicator.

It's also a misunderstanding of statistics to think that differences will apply to individuals. These aren't two completely separate distributions, but rather distributions that overlap in different ways for different factors that impact outcomes in complicated an often unknown ways. Science and genetics are not that simple.

> That would not happen in the ideal world

Our world is far from that, sadly. What has caused more damage in history than racism - wars, massacres, slavery, oppression (including mass incarceration), endless lifetimes and generations lost to neglect? There have been no wars, slavery, or massacres due to anti-racism.

> They always assume their race (or gender) will end up on top - probably just coincidence! I always wonder what they'll say about research that turns out otherwise.

They go "hey, cool, we can get a paper out of this" https://web.mit.edu/fustflum/documents/papers/AshkenaziIQ.jb...

> Human geneticists are cult-like in their commitment to never explicitly interpreting findings, however unambiguous the evidence is, in a way that could potentially have a remote chance of being used as fuel for discrimination.

History has shown this to be wise. If human beings -- as individuals or as a group -- come to view themselves as superior to others, the next step is always abuse, enslavement, or war. Civilization tries very hard to suppress this for the same reason that it suppresses some of the wilder expressions of unbridled human sexuality, physical aggression, etc. Moral issues aside, there’s certain stuff that just breaks everything if you let it run unchecked.

A truly intelligent being could look dispassionately at the various distributions of abilities and other differences in its population and deal with this maturely and rationally. We aren't capable of this yet. I don’t think we can handle it emotionally.

This is an area where my opinions have evolved as I’ve gotten older and seen more of the world. We do, in fact, need taboos around certain things. I don’t think there should be too many of them, but there’s areas where the need has been repeatedly demonstrated.

What's amusing is that according to the literature height can be inherited but intelligence can not be.

More generally, any characteristic that can be used to denigrate (or promote) a group is not inheritable. It's the fiction that keeps genetics moving along.

Doubly amusing because in nearly every social animal (dogs, cats, horses, pigs, primates, etc) it’s universally accepted that intelligence, curiosity, sociability, aggression, territoriality, impulsivity, problem-solving, persistence, reward motivation…

… are all highly heritable.

Humans are miraculously, according to the experts, the sole and unquestionable exception in the animal kingdom.

Academia has been claiming otherwise actually. There have been a bunch of studies trying to overturn the idea that dog behaviour is genetic, and turn it into a purely environmental thing. My guess is they’re worried that if we accept it’s true for animals , there’s not much of a leap to assuming it’s true for humans.

I don’t know enough about it to say whether the studies are BS or not, but as an experienced animal keeper, claims that it’s not heritable goes so heavily against my lived experience that I can’t reconcile it with reality.

> What you can’t do is combine these concepts into any uncomfortable findings when it comes to humans.

You can[1], and it's been done.

1. https://en.m.wikipedia.org/wiki/Scientific_racism

There's been a dispute over that for a long time, they're often called Homo sapiens neanderthalensis. (Modern humans then being Homo Sapiens Sapiens, which seems somewhat vain, calling ourselves "wise wise man")

"History is written by the victors"

I'm not sure that matters but one hill I will die on is that all members of homo are humans too.

If we're renaming things I'd rather we call ourselves homo gregarius. There's no evidence we were individually smarter than our Neanderthals cousins, rather we were a variety of humans which lived in larger groups and thus could sustain a more sophisticated technological toolkit.

And for the curious as I can't go back and edit the comment it was the Altai, Vi3315, and Vi3319 that have the CYP21A2 rs6467 (C;T) variant

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