DNA Traits · Appearance
Earlobe attachment (PAX9 marker)
Whether the earlobe joins the side of the head or hangs free.
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Evidence · Replicated
What the research found
In the cited research, the C allele at rs1950357 was associated with more attached earlobes.
- AA
- Less attached
- AC
- Middle
- CC
- More attached
Slight effect
- Evidence
- Multi-cohort genome-wide association with independent replication
- Who was studied
- European American, Latin American and Han Chinese cohorts rated by experts, replicated in 23andMe research participants of European ancestry
1000 Genomes Project
How common each genotype is
| Region | AALess attached | ACMiddle | CCMore attached |
|---|---|---|---|
| All regions2,504 people | 45% | 41% | 14% |
| Africa661 people | 67% | 28% | 4% |
| The Americas347 people | 40% | 44% | 15% |
| East Asia504 people | 48% | 43% | 9% |
| Europe503 people | 42% | 42% | 16% |
| South Asia489 people | 20% | 50% | 30% |
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.
rs1950357
The marker
- Gene or region
- PAX9 region
- Marker
- rs1950357
- Location
- Chromosome 14 · GRCh37 37,209,698 · GRCh38 36,740,493
- 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
- PAX9 region · rs1950357
- Location
- Chromosome 14 · GRCh37 37,209,698 · GRCh38 36,740,493
- Studied allele
- C
- Published statistic
- C allele: rater-scored beta on the 0 (free) to 2 (attached) scale 0.086 (SE 0.020, P 2.40e-5) European American, 0.027 (SE 0.010, P 9.41e-3) Latin American, 0.065 (SE 0.016, P 8.04e-5) Chinese; rater-scored meta-analysis P 4.82e-9; 23andMe self-report OR 1.237 (1.206 to 1.269), P 8.26e-59; all four cohorts P 2.85e-66 (Table 1) (Table 1 (23andMe and rater-scored rows); Methods (23andMe sample of 64,950; 0, 1, 2 coding))
- 1000 Genomes Project phase 3, people with 0, 1 and 2 copies
- All regions 1137 / 1015 / 352 · Africa 446 / 187 / 28 · The Americas 140 / 154 / 53 · East Asia 243 / 218 / 43 · Europe 209 / 213 / 81 · South Asia 99 / 243 / 147
Limits
What it cannot tell you
A single marker, one of dozens that shape earlobe attachment.
Multiethnic GWAS reveals polygenic architecture of earlobe attachment (Shaffer et al., 2017)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 (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 (PPARGC1B)
- 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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