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Biological Psychology > Human Genetic Variation > Flashcards

Human Genetic Variation Flashcards

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1
Q

SELECTION VIA RESEARCHERS/DEMOGRAPHICS OF HUMAN RESEARCH PPS

A
  • contemporary ethic guidelines/research norms emphasise consent from pps = for collecting/storing/analysing personal data
  • IV in planned comparisons
  • DV in multivariate analysis/structural equation modelling/path analysis
  • demographic info to check for subject selection/findings contextualisation/post-hoc comparison biases
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2
Q

HUMAN PP CATEGORIES IN RESEARCH

A
  • age/development/reproduction
  • health/disability/addiction/physiological state
  • sex/gender/orientation
  • race/ethnicity
  • occupation/work status/leadership
  • socio-economic/immigrant status
  • education/family
  • political views/religion
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3
Q

GENDER/SEX BINARY HISTORICALLY ALIGNED W/SEX CHROMOSOMES

A
  • bio determinism based on binary (XX VS XY/egg VS sperm parent)
  • challenged traditional binary view of sexual differentiation in humans as sole determinant of gender/sex
  • sex chromosomes anomalies have various symptoms (ie. Klinefelter/Triple X syndrome (XXY/XXX); Turner syndrome (X whole/part missing)
  • intersex = mild-severe development anomalies of sexual organs
  • gender/sex = bio/social processes/factors = independent/influence each other in construction
  • wide individual variation in traits not dimorphic as many dif experiences during development/social/physical/pre-birth physiological environmental factor (incl. hormones)
  • gender identity/sexual orientation/behs NOT binary
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4
Q

GENDER/SEX BINARY X INTELLIGENCE

A
  • IQ tests devised >120ya repeatedly revised; high statistical reliability BUT limited validity; pps increase IQ scores w/test task training
  • alternative theories = dynamic assessment testing proximal children development (Vygotsky/Feuerstein)/multiple IQ theory (Gardner/Sternberg)
  • IQ studies select task range correlate scores to calculate g factor then correlated w/binary gender IV making inferences about bio processes in brain/genes
    HYDE (2005)
  • gender similarity hypothesis = despite average bio difs, more similarities in brains/beh/psych traits between sex
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5
Q

GENOME

A

genes -> all body/cell functions/reproduction & inheritance

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6
Q

WHAT’S IN DNA?

A
  • 2% genes = protein-coding DNA sequences

- 98% non-coding DNA = functionally important; contributes to complex genetic architectures in which genes embedded

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7
Q

GENETRIC VARIATION IN SAME SPECIES INDIVIDUALS

A

DNA (GENOME) DIFS
- individual variation = between individuals
- within-pop variation = all individuals in pop/area that interbreed
- between-pop variation = between pop/areas that haven’t interbred in a while
ORIGINS OF GENOME VARIATION
- multiple variants (gene alleles/polymorphisms) occur in dif frequencies in-between pops
- DNA changes over time (mutations); recombined during reproduction
- migration/admixture between pops change alleles/polymorphism distribution in pop

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8
Q

GENETIC VARIATION MEASUREMENT

A
  • observation of traits/pedigrees (assumptions about genotype/inheritance)
  • genetic/genomic measurements
    NELSON et al (2013)
  • 19th century = Darwin’s evolution theory/Mendelian inheritance laws/biometry
  • 20th century = quantitative genetics/biometry/molecular genetics emergence
  • 1980-21st century = PCR test/genomics age
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9
Q

LEVELS OF STUDYING GENETIC VARIATION

A
  • biometry quantitative genetics measure observable traits (height/colouration/beh)
  • genetics focused on difs between chromosomes/selected genes sequences
  • genomics searches at many hundreds of loci or markers in genes/non-coding DNA (short sequences/non-coding DNA/single base-pairs)
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10
Q

HUMAN GENOME PROJECT (1984-2004)

A
  • international collaborative research aimed to completely map all human genes
  • full sequence available 2001-2004 ($2.7b)
  • genome info fully available; natural human sequences cannot be patented
  • other initiatives focusing on genome diversity:
    1. Human Genome Diversity Project (1990s)
    2. HapMap Project (2003)
    3. Genographic Project (National Geographic) (2005)
    4. 1000 Genomes Project (2008)
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11
Q

HUMAN BODY WEIGHT

A
  • human body weight highly heritable BUT high polygenic trait
  • studied +century; today studies reveal high complexity of genetic interactions/biologically relevant genes/non-coding DNA roles
  • 100s of variants of many genes/non-coding DNA > 180 genomic loci determine how tall person grows in given environment
  • locus = physical location of gene/DNA sequence on chromosome
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12
Q

SHRINKING BODY HEIGHT MYSTERY

A

KOMLOS (1998)

  • previously unknown cyclic human body changes in Europe/North America during Industrial Revolution
  • shrinking soldier/worker body sizes despite growing economics
  • labour sparked economic interest intensification in understanding bio causes/nutrition & health impact in early age on body conditions
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13
Q

MEASURING HUMAN BODY

A
  • anthropometry = measuring body/head (cranium)/face variations
  • correlation w/racial/intelligence/beh (ie. criminal acts)/psych trait categories
    GALTON (1888)
  • correlated head size VS degree results in 1000 male undergrads at Cambridge Uni claiming strong relationship/proposing later concept of generalised mental ability (GMA/g factor)
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14
Q

BROAD POP SURVEYS/CASE STUDIES PRIOR TO GENOMIC AGE

A
  • trace difs in mental/emotional/personality/beh traits (ie. alcoholism/feeblemindedness) vi IQ tests/genealogy/statistical surveys of mental/other illnesses (ie. Tuskegee syphilis stage in African-Americans)
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15
Q

MODERN EUGENICS

A
  • 1896; studying rich fam pedigrees; “superior IQ/abilities” = heritable
  • racial segregation believed = necessary mechanism to maintain those in pop
  • “defective” pedigrees study (socially deviant/problematic) widely accepted part of eugenic family studies
  • pedigree imagery chart propelled broad misuse in professional sphere to gen popular culture
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16
Q

DARWIN’S THEORY MISUSE

A
  • original theory explains species diversity on Earth/how species w/dif adaptations appear/disappear
  • misplaced morality/Social Darwinism = evolution IS NOT “survival of the fittest”
  • selective (human-driven/artificial) breeding misconception as evolution
  • natural selection DOES NOT optimise traits or results in progress/remove variation/prevent individuals reproducing/focus on goal-orientation
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17
Q

SCIENTIFIC RACISM POST WW2

A
  • deep societal impact
  • crimes against humanity/genocide deploy simplified wrong claims about natural selection; argue bio “superiority” exists in particular groups/humans
  • pseudoscience = seemingly objective justification for colonisation/slavery/social policies controlling/limiting life/opportunities/human rights considered “inferior”
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18
Q

LONG-LASTING IMPACT OF EUGENICS/”RACE SCIENCE”

A
  • eugenics/race science opposition amongst scientists/society disrupting theoretical claims/methodologies/definitions; generated disproving evidence
  • opponent numbers/visibility amongst scientists started ^ post 1925 BUT eugenic ideas persisted widely socially (ie. included in 1950s high school textbooks)
  • supremacy ideas persist to date; some scientists claim modern evidence/confirmation; necessary open debate
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19
Q

INHERITANCE

A
  • NOT simply blending egg/sperm parent characteristics
  • modern genomics = most human trait variations are polygenic; Mendelian trait variations rare
  • skin = largest organ; highly variable/complex:
    1. not uniformly distributed
    2. variation via bio sex; dif environment changes during disease/pregnancy
    3. complex tangled relationship between genes determining polygenic inheritance; some have several alleles not always dominant-recessive
    4. 15 genes regulating melanin amount in melanocytes of skin explain only some skin variation
20
Q

HIGHEST SKIN COLOUR VARIATION: AFRICA

A
  • UV levels correlation suggests adaptive selective for lighter skin in high human latitude migration
  • genetics studies in skin pigmentation mainly in European pops focussing on derived alleles strongly affected by lighter skin selection in low ultraviolet radiation (UVR) regions
  • led to mistake of small gene number having large effect on skin pigmentation; skin colour variation research in Africans identified novel/canonical pigmentation genes
  • spectrophotometry to determine melanin levels more accurately from upper underarm area (unexposed to sun); South African San have oldest genetic lineages in Africa; v light skin
21
Q

RACE

A
  • biologically real BUT social/cultural construct; historically established social hierarchies/slavery
  • modern genetics evinces that biologically distant human race concepts = obsolete
    CANN (1998)
  • human genome diversity studies show large genetic variability due to difs among individuals in pops rather than difs between pops
    YUDELL et al (2016)
  • genomic research shows using “race” in genetic diversity discussions = unnecessary (doesn’t add anything uncovered by pop cluster/dangerous (easily misleads laying dehumanisation groundwork)
22
Q

MIGRATION & ADMIXTURE

A
  • 6 strangers w/same genetic ancestry
  • genetic variation provides info about genetic relatedness between individuals/families OR which pop ancestors come from/if species interbred:
    1. SNP mapping
    2. mitochondrial DNA
    3. Y-chromosome
  • construction of ancestry profiles gen evidence interactions between pops history NOT individual’s fam history
23
Q

MTDNA TESTS

A
  • whole genome sequencing for individual is expensive (though getting cheaper w/technological advancement)
  • mitochondrial (mtDNA) sequencing = cost-effective
  • we share v similar mtDNA w/close relatives
  • important genetic marker in forensics/anthropology/medicine/evolutionary research
    BENEFITS
  • high number of copies in cell
  • inherited from egg parent
  • no recombination
  • high mutation rate
24
Q

MTDNA HAPLOTYPE GEOGRAPHIC CLUSTERING

A
  • oldest mtDNA haplogroups = Africa
  • haplogroup L3 = ancestral to haplo-groups M/N which arose in North-East Africa; found in Europe/Asia
  • haplogroups A/B/C/D frequent among Native Americans
  • haplogroups A/B/C/D/F/G derived from M/N in Asia
  • haplogroups H/I/J/N1b/T/U/V/W/X derived from haplogroup N in Europe
25
Q

HOMO SAPIENS = MIGRATORY SPECIES

A
  • human pops spatially connected/interacting
  • no physiological reproductive barriers preventing admixture
  • early/modern humans dispersed/migrated overcoming geographical isolation
  • mixed diet/cog functions/cultural innovations enabled humans to survive in many dif environments & change them
26
Q

EARLY/MODERN HUMAN MIGRATION

A
  • out of Africa in big/small waves
  • main migration/dispersal waves:
    1. 300kya = migrations across Africa
    2. 150-80kya = migration to Middle East/Eurasia
    3. 60-40k = reached Australia
    4. 20kya = reached Americas
27
Q

PAUCITY OF STUDIES IN AFRICA

A

TANG & BARSH (2017)

  • earliest modern humans in Africa 200kya; longest time to accumulate largest genetic diversity
  • “signature/story book of human origins”
  • overdue to focus/understand human diversity of Africa
28
Q

CLIMATE MATTERS

A

SCERRI et al (2018)

  • typical modern human features emerge in mosaic-like fashion in homo sapiens clade
  • evidence that climate varied greatly; ^ aridity/humidity periods asynchronous across Africa
  • genomic studies show early homo sapiens compromised several pops across Africa interlinked; w/connectivity changing through time prior/post main OOA (out of Africa) migration wave
29
Q

HUMAN LOCAL ADAPTATIONS

A

FAN et al (2016)

  • humans in geographical region = more frequent contact/admixture > distant pops
  • several local adaptations found in some pops besides melanin concentrations in skin
  • via continued migration; admixing spreads alleles across pops
30
Q

INNER-ETHNIC FAMILY HISTORY

A 
MIRANDA KAUFMANN (2017)
- black tudors; Africans known to live in Roman Britain
CABALLERO (2019)
- mixed fams in 1930s London/Liverpool = not rare sight
31
Q

RACE = DISCRIMINATORY SOCIAL SEGREGATION MECHNISM

A

SIMS (2019)

  • pseudoscientific bio concepts to cement social barriers after slavery abolition in 19th century; racial mixture considered medically pathological/unnatural
  • problems of racialised social constructions/world views = segregation/race laws/racial discrimination/microlevel of interactions/symbolisms
  • learning from past = collective ideas about physical attributes for individuals from dif races used to reinforce superiority concepts of some humans over others
32
Q

POWER OF WORDS

A

BHOPAL (2004)

  • first appearance of “race” in English language = 16th century w/expansion to colonisation via Europeans
  • used to describe people in geographical regions (ie. European/Africans/Asians)/belonging to certain languages/religions (ie. Arab/Slavic/Jewish)
  • race IS NOT subspecies
  • ethnicity = people distinguished from others; used since Middle Ages
  • BAME/BME = unclear; keeps focus on skin colour/imposed monolithic otherness label; many prefer self-identifying as BIPoC representing diverse cultural identities/shared systemic racism experience
33
Q

WHO ARE WE?

A
  • all present pops originate from 1 ancestral African pop
  • genetic variation exists in every (human) species
  • humans migrated/mixed continuously
  • no biological basis for races
  • race = social construct
34
Q

GENETIC VARIATION & HEALTH

A
  • genetic/epigenetic changes in dif environments/admixture in human pops explains susceptibility patterns to human pathologies
  • health conditions can impact on capacity of individuals to respond to health threats that arise from quickly evolving microorganisms/viruses
  • given expanded life span, aging processes have yet poorly understood impact on cognition/mental disorders can involve dif susceptibilities based on genetic signatures in individuals
  • drive towards personalised medicine based on genetic profiling which possible due to modern technologies that are becoming cheaper/widely accessible
35
Q

IMMUNOLOGICAL CHANGES IN HUMAN POP GENOMES

A

DE VRIS et al (1976)
- migration exposes human groups to new environments/diseases
- 60% mortality rates among Dutch colonists in Surinam from epidemics in yellow/typhoid fever
WALKER et al (2015)
- infectious diseases killed >10k individuals in 59 indigenous communities of Amazonia in past 200y BUT mortality rate/incidence decayed over time due to genetic adaptation

36
Q

GWAS (Genome Wide Association Studies)

A

TAM et al (2019)

  • complex analysis of SNP data identifies GWAS variants highly associated w/disease/disease risks
  • ^ data amounts become available from hospitals
  • genomic approaches can help to generate new diagnostic tools/drugs/therapies that prevent/treat diseases ^ effectively w/less side effects
37
Q

GWAS BENEFITS

A
  • relies on smallest possible DNA sequence changes (single nucleotides) frequent in pop (>1% termed SNP (single-nucleotid polymorphism); SNP in pp has C (nucleotide cytosin) instead of T (nucleotide thymin) in same sequence position; Ca 90% sequence variants in humans = SNPs
  • looks at whole genome of many individuals; huge number/stable inheritance = good SNPs markers; associations w/polygenic traits ^ likely to be uncovered to understand variation/for applications
  • SNPs in loci containing genes can be prioritised during analysis
38
Q

GWAS LIMITS

A
  • requires fully sequenced genomes of hundreds to thousands of individuals/their relatives (technological)
  • w/thousands of loci included = ^ chance to detect more dif associations
  • dark matter in genome; SNPs in non-coding DNA = no direct functional role/less important for polygenic trait; ^ difficult to interpret/confirm associations
39
Q

GWAS IN PSYCHIATRY

A

HOWRITZ et al (2019)

  • candidate genes studied for many decades BUT studies oft underpowered w/small samples
  • first study funded by Wellcome Trust (2007)
  • 2017 = 2,430 studies (1,818 phenotypes; 28,462 associated SNPs reported in GWAS catalogue); psych-related = 472 studies on 198 phenotypes/6,632 SNPs
40
Q

SNP PHENOTYPE NETWORK

A
  • red = STATSIG association w/psychological/psychiatric phenotypes + at least one other phenotype
  • blue = non-psychological phenotype
41
Q

NEW ETHICAL CHALLENGES FOR APPLICATIONS

A

FAN et al (2016)
- chance for bias in sampling rules of pop/individual categorisation
- expanded precision/tools for genetic interference
ETHICS/MORALITY
- which pop parts represented in studies?
- which traits = healthy/normal?
- prediction errors = who is carrier/affected by predicted risk under which life/environment conditions?
- how/when/where is most detailed genetic fingerprint of individual used?

42
Q

“WEIRD” PSYCHOLOGY

A 
W = Western
E = Educated
I = Industrialised 
R = Rich
D = Democratic
43
Q

WHY DECOLONISE PSYCHOLOGY?

A
  1. Inability to create world view understanding of human beh.
  2. Minority groups cannot identify.
  3. Can lead to discrimination.
  4. Globalised world = globalised education.
    CRITICAL QUESTIONS
    - eurocentric views
    - cross-cultural western theory application
    - number of citations/first or last authorship conducted/taught research; staff involved in research/education/professional training
44
Q

WHAT CAN WE DO?

A

GENERAL
- Indigenisation/Normalising Non-WEIRD Experiences = drawing on local knowledge to modify standard practice
- accompaniment = share expertise globally
- denaturalising conventional scientific wisdom = drawing on local knowledge of marginalised communities
SPECIFIC
- changing reading lists/references/citations
- teaching about bias
- learning/teaching about history if female/BAME psychology

45
Q

SUMMARY I

A
  • human pps categorisation = important tool in psychological research/applications; requires careful consideration/justification to avoid bias
  • timely to reconsider sex/gender binary; generate new conceptual frameworks in human research
  • despite bio difs/need to understand gender difs, big gender similarities is psych/beh traits evident
  • genetic variation estimated (observable physical traits/pedigrees/heritability estimates distribution)/defined at chromosomes level (ie. sex/gender binary)/genome (DNA nucleotid sequences)
  • economic/societal interest on advancing natural sciences/healthy workforce need/colonial societal superiority concepts/19th century inequality foster racial pseudoscience/eugenics rise
  • continued need to learn/remember lessons from past about severe impact/dire consequences of half century eugenics in science/society; Widespread Eugenics policies ie. racial segregation/forced sterilisation to breed “perfect” humans/society formally denounced post WW2 BUT ideas still circulate; returning pseudoscientific “race science” claims debunked/negative LT societal impact
46
Q

SUMMARY II

A
  • race ISN’T biological but social construct; skin colour trait underpinned by complex genetic architecture interacting w/environment; recent genomics advances/studying African skin colour diversity revealed genetic mechanism/adaptations/pop structure insights
  • mitochondrial DNA/SNPs variation allow human ancestry reconstruction plus to extends relatedness over past generations
  • humans = migratory; admixtures traced back thousands years in DNA; historical records evince recent admixtures in pops connected via trade/migration/colonisation/other contacts; some genetic variance arises from local adaptations to environmental conditions/diseases
  • important to apply scientific terminology correctly in wider society communication about gen knowledge
  • GWAS analyse whole genomes of people in same/dif pops; offers new opportunities to discover mechanisms/measure inheritance/ancestry/predict risks for personalised psychiatry/psych therapies
  • WEIRD oversampling might limit/skew our human beh understanding

Biological Psychology (21 decks)

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