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Natural selection

Most of what this catalogue tracks is invisible to natural selection — an effect too small, or arriving too late in life, to move the odds of surviving or reproducing. A handful of variants are the exception: population geneticists have measured the direct fingerprint of selection acting on them within the last few thousand years, in some cases strong enough to push a single allele from rare to near-fixed.

Why this topic Ancient DNA sequencing has gone from a handful of skeletons a decade ago to thousands today, and new statistical methods can now track an allele's frequency rising or falling generation by generation instead of only comparing populations as they exist now. The loci it keeps returning to are largely the same six or seven names population genetics has pointed to for twenty years.

What this topic connects to

Natural selection Variant: rs1229984 rs1229984 Variant Variant: rs4988235 rs4988235 Variant Variant: rs3827760 rs3827760 Variant Variant: rs671 rs671 Variant Variant: rs16891982 rs16891982 Variant Variant: +41 more +41 more Variant Natural selection Natural selection

Solid lines are connections this site curates. Dashed lines mean the two ends share a research paper — worth knowing, and not a claim that one explains the other.

Named by the study itself

These six are not co-mentions. Each is among the most thoroughly confirmed targets of positive selection in the human genome, established by a dedicated population-genetics study distinct from the paper that first described the variant's effect: LCT and lactase persistence (Bersaglieri et al. 2004), ALDH2 and the alcohol-flush reaction (Oota et al. 2004), EDAR and hair and sweat-gland variation (Kamberov et al. 2013), SLC45A2 and skin pigmentation (Norton et al. 2007), G6PD deficiency, which cuts the risk of severe malaria by 46-58% (Ruwende et al. 1995), and the Duffy blood group, whose null allele shows the largest population-frequency difference ever measured at a single human locus and confers complete resistance to one form of malaria (Hamblin & Di Rienzo 2000).

rs4988235

MCM6 / LCT

Lactose tolerance

rs671

ALDH2

Alcohol flush reaction

rs3827760

EDAR

Hair thickness

rs16891982

SLC45A2

Skin pigmentation

rs1050828

G6PD

G6PD deficiency (G6PD A-)

rs2814778

DARC / ACKR1

Duffy blood group (malaria resistance)

Variants that share a paper with this

Counted in Europe PMC, where the title or abstract names both this topic and that rsID. The number is papers, not evidence of a cause.

rs1229984

ADH1B

Alcohol metabolism speed

8 papers →

rs4988235

MCM6 / LCT

Lactose tolerance

7 papers →

rs3827760

EDAR

Hair thickness

5 papers →

rs671

ALDH2

Alcohol flush reaction

4 papers →

rs16891982

SLC45A2

Skin pigmentation

3 papers →

rs1815739

ACTN3

Muscle fiber type ("sprinter gene")

3 papers →

rs2294008

PSCA

Bladder cancer

3 papers →

rs2814778

DARC / ACKR1

Duffy blood group (malaria resistance)

3 papers →

rs4766578

SH2B3

Vitiligo

3 papers →

rs17822931

ABCC11

Earwax type & body odor

2 papers →

rs1801133

MTHFR

Folate metabolism (MTHFR C677T)

2 papers →

rs9923231

VKORC1

Warfarin sensitivity

2 papers →

rs1004467

CYP17A1

Systolic blood pressure

1 paper →

rs1042602

TYR

Skin pigmentation

1 paper →

rs1050828

G6PD

G6PD deficiency (G6PD A-)

1 paper →

rs10768122

CD44

Vitiligo

1 paper →

rs10896449

near SMIM38

Prostate cancer

1 paper →

rs11154801

AHI1

Multiple sclerosis

1 paper →

rs11191548

NT5C2

Systolic blood pressure

1 paper →

rs11209026

IL23R

Crohn's disease

1 paper →

rs112233623

CCND3

Mean corpuscular volume

1 paper →

rs1167827

HIP1

Body mass index

1 paper →

rs13385731

RASGRP3

Systemic lupus erythematosus

1 paper →

rs143384

GDF5

Height

1 paper →

rs17095355

XPNPEP1

Biliary atresia

1 paper →

rs1799884

GCK

Glycated hemoglobin levels

1 paper →

rs2000999

HPR

LDL cholesterol

1 paper →

rs2066702

ADH1B

Alcohol dependence

1 paper →

rs2395029

HLA-B

HIV-1 control

1 paper →

rs2856718

HLA-DQB1

Chronic hepatitis B infection

1 paper →

rs3077

HLA-DPA1

Hepatitis B

1 paper →

rs31251

RAPGEF6

Itch intensity from mosquito bite adjusted by bite size

1 paper →

rs4244285

CYP2C19

CYP2C19 *2 — clopidogrel activation

1 paper →

rs429358

APOE

Lewy body disease

1 paper →

rs560887

G6PC2

Fasting plasma glucose

1 paper →

rs601338

FUT2

Secretor status

1 paper →

rs6265

BDNF

Smoking behavior

1 paper →

rs6983267

POU5F1B

Prostate cancer

1 paper →

rs7412

APOE

Cholesterol, total

1 paper →

rs776746

CYP3A5

CYP3A5 expression (*3 allele)

1 paper →

rs7901695

TCF7L2

Type 2 diabetes

1 paper →

rs800292

CFH

Circulating myeloperoxidase levels (serum)

1 paper →

rs8109288

TPM4

Platelet count

1 paper →

rs867186

PROCR

Anticoagulant levels

1 paper →

rs9264942

PSORS1C1

Crohn's disease

1 paper →

rs9282541

ABCA1

HDL cholesterol

1 paper →

How this was counted

Europe PMC, title and abstract only, searched for “natural selection”, “positive selection”, “selective sweep”, “genetic adaptation” alongside each published rsID. Full text was not counted: it returns every paper with an rsID buried in a supplementary table. Recounted monthly.

Questions about Natural selection

What is Natural selection?

Natural selection is this site's topic page for variants where population geneticists have measured selection acting directly on the locus, not just an association with a trait — the rare part of human genetics where the story is evolutionary rather than clinical.

Do all the variants on this page affect disease risk?

No — most were favored for a completely different reason (digesting milk, tolerating alcohol, resisting malaria, hair thickness), and several carry no disease risk at all. What they share is a documented signature of selection, not a shared health effect.

Why is natural selection a topic on this site now?

Ancient DNA sequencing and new statistical methods have turned selection detection from comparing populations as they exist today into directly reconstructing how an allele's frequency changed generation by generation — and the loci it keeps returning to are largely the same six or seven names population genetics has pointed to for twenty years.

What are the "confirmed" variants on the natural selection topic page?

They are not co-mentions like the rest of the list. Each is backed by its own dedicated population-genetics study demonstrating selection at that exact locus, separate from whichever paper first described what the variant does.