DNA Traits · Appearance
Freckling (PPARGC1B)
Whether people report having freckles, the small tan spots the sun brings out.
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Evidence · Replicated
What the research found
In the cited research, the T allele at rs251468 was associated with reporting freckles less often in the studied East Asian cohorts.
- CC
- More often
- CT
- Middle
- TT
- Less often
Modest effect
- Evidence
- Genome-wide association with independent replication
- Who was studied
- East Asian ancestry (Japanese women; Chinese men and women)
1000 Genomes Project
How common each genotype is
| Region | CCMore often | CTMiddle | TTLess often |
|---|---|---|---|
| All regions2,504 people | 47% | 42% | 12% |
| Africa661 people | 36% | 44% | 20% |
| The Americas347 people | 36% | 46% | 18% |
| East Asia504 people | 61% | 35% | 5% |
| Europe503 people | 54% | 40% | 6% |
| South Asia489 people | 46% | 45% | 9% |
Among the 2,504 people of the 1000 Genomes Project, in five world regions. These percentages describe groups of people, never anyone’s chance of having a trait.
rs251468
The marker
- Gene or region
- PPARGC1B
- Marker
- rs251468
- Location
- Chromosome 5 · GRCh37 149,194,485 · GRCh38 149,814,922
- Letters studied
- C and T, with T as the studied allele
A DNA Traits report reads this marker in your raw DNA file and shows which of the three genotypes is yours, with how common it is. It counts the copies of the studied allele; it does not measure the trait itself.
- Marker
- PPARGC1B · rs251468
- Location
- Chromosome 5 · GRCh37 149,194,485 · GRCh38 149,814,922
- Studied allele
- T
- Published statistic
- OR 0.69 per T allele for freckles (95 per cent CI 0.64 to 0.75), meta-analysis P 1.3e-21 with P 2.1e-9 and 5.3e-14 in two independent Japanese sample sets, about 4,034 freckles cases among 11,311 women (Endo 2018 Table 1); Chinese replication: OR 0.66 (0.59 to 0.74) per T, P 1.26e-13, validation OR 0.60, P 6.29e-6, n 8,251 (Wang 2022 Supplementary Table 3); the same signal is a replicated tanning locus in Europeans through rs251464, OR 0.94 per C for low tan response, P 2.16e-9 (Visconti 2018 Table 1) (Table 1 (Freckles, rs251468))
- 1000 Genomes Project phase 3, people with 0, 1 and 2 copies
- All regions 1165 / 1047 / 292 · Africa 237 / 292 / 132 · The Americas 126 / 160 / 61 · East Asia 306 / 175 / 23 · Europe 273 / 200 / 30 · South Asia 223 / 220 / 46
Limits
What it cannot tell you
The freckles result comes from East Asian ancestry only, and both studies recorded only whether people reported freckles, never how many.
Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations (Endo et al., 2018)The same topic
More in Appearance
- Eye pigmentation
- Red hair association
- Blond hair association
- Hair shape
- Hair thickness association
- Skin pigmentation
- Freckling association
- Hair greying association
- Eyebrow thickness association
- Beard density association
- Unibrow association
- Nose bridge breadth association
- Nose wing breadth association
- Nose protrusion association
- Nose tip angle association
- Chin protrusion association
- Earlobe attachment association
- Earlobe size association
- Ear ridge folding association
- Male pattern hair loss
- Male pattern hair loss, HDAC9 marker
- Male pattern hair loss, EBF1 marker
- Male pattern hair loss, WNT10A marker
- Hair lightness, SLC24A4 marker
- Blond hair, TPCN2 marker
- Hair lightness, SLC45A2 marker
- Red hair, ASIP region marker
- Hair lightness, HERC2 marker
- Hair colour, IRF4 marker
- Hair shape, WNT10A marker
- Hair shape, PADI3 marker
- Hair shape, HOXC13 marker
- Hair shape, GATA3 region marker
- Hair shape, FRAS1 marker
- Hair shape, LCE3E marker
- Straight hair, EDAR marker
- Eyebrow thickness, FOXD1 region marker
- Eyebrow thickness, FOXL2 marker
- Shovel-shaped incisors
- Finger length ratio (SMOC1 marker)
- Finger length ratio (LDAH marker)
- Finger length ratio (SALL1 marker)
- Finger length ratio (OLA1 marker)
- Nose root position
- Nose wing breadth (PAX1 marker)
- Earlobe attachment (PAX9 marker)
- Earlobe attachment (KIAA1217 marker)
- Earlobe attachment (MRPS22 marker)
- Fingerprint whorls (ADAMTS9 marker)
- Fingerprint whorls (EVI1 marker)
- Fingerprint whorls (SALL3 marker)
- Green or hazel eyes
- Eye pigmentation (TYR)
- Freckling (TYR)
- Skin pigmentation (OCA2 H615R)
- Freckling (HSPA12A)
- Freckling (BNC2)
- Freckling (EMX2)
- Freckling (EIF6, ASIP region)
- Skin lightness (OCA2 A481T)
- Eye pigmentation (TSPAN10)
- Eye pigmentation (TYRP1)
- Eye pigmentation (SLC24A4)
- Eye pigmentation (SIK1)
- Eye pigmentation (OCA2 exon ten)
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