DNA Traits · Skin & sun
Facial pigmented spots association
Brown spots that appear on the skin of the face with age.
What the research found
In the cited research, the C allele at rs62543565 was associated with less facial skin area affected by age-associated pigmented spots in the studied cohorts.
- AA
- More spots
- AC
- Middle
- CC
- Fewer spots
What the study found
In the study, each copy went with area of the face covered by pigmented spots (relative change) about 6.32% lower on average.
- Evidence
- Conditional genome-wide association with nominal independent replication
- Who was studied
- Older Dutch European adults from the Rotterdam Study and independent Leiden Longevity Study
How common each genotype is
| Region | AAMore spots | ACMiddle | CCFewer spots |
|---|---|---|---|
| All regions2,504 people | 19% | 44% | 37% |
| Africa661 people | 23% | 48% | 30% |
| The Americas347 people | 19% | 46% | 35% |
| East Asia504 people | 12% | 45% | 43% |
| Europe503 people | 38% | 48% | 14% |
| South Asia489 people | 5% | 32% | 63% |
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.
The marker
- Gene or region
- BNC2
- Marker
- rs62543565
- Location
- Chromosome 9 · GRCh37 16,901,067 · GRCh38 16,901,069
- Letters studied
- A and C, with C 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
- BNC2 · rs62543565
- Location
- Chromosome 9 · GRCh37 16,901,067 · GRCh38 16,901,069
- Studied allele
- C
- Published statistic
- -6.32% change in spot area per C allele (SE 1.25), P 1.5e-7 (Table 2); conditional on the IRF4, MC1R and ASIP signals -6.4%, P 2.3e-8 (Results); multivariable -6.54% (SE 1.21), r² 0.58% (Table 4); Leiden Longevity Study replication beta -0.15 (SE 0.07) on a 9-point photo grade (observed 2 to 8, mean 4.4, SD 1.2), P 0.033, n 599 (Table 2 and Results) (Table 2 (discovery cohort RS))
- 1000 Genomes Project phase 3, people with 0, 1 and 2 copies
- All regions 488 / 1099 / 917 · Africa 149 / 314 / 198 · The Americas 65 / 161 / 121 · East Asia 60 / 227 / 217 · Europe 191 / 240 / 72 · South Asia 23 / 157 / 309
What it cannot tell you
This study measured the facial area covered by pigmented spots in older adults; the measure mainly captured sun-related age spots (solar lentigines) and some seborrheic keratoses, and heavily freckled participants were excluded. It cannot tell you about your current spots, assess a skin lesion, estimate skin cancer risk or predict how old your face looks. Only the studied A/C allele pair is interpreted.
A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots (Jacobs et al., 2015)More in Skin & sun
- Ease of tanning association
- Severe sunburn history association
- Mole count association
- Ease of tanning (TYRP1)
- Ease of tanning (TRPS1)
- Ease of tanning (EMX2)
- Ease of tanning (IRF4)
- Ease of tanning (SPIRE2)
- Ease of tanning (MC1R R151C)
- Tanning ability (ASIP region)
- Ease of sunburn (SLC45A2)
- Sunburn history (MC1R R160W)
- Stretch marks
See your own two letters.
Upload the raw DNA file you already have. Your report reads this marker and every other card studied for you, each with its evidence and its limits.