Evidence · Replicated

What the research found

In the cited research, the C allele at rs927833 was associated with smaller nose wing breadth in the studied cohort.

TT: Broader
CT: Middle
CC: Narrower

Slight effect

What the study found

In the study, each copy went with nose wing breadth rating from photos, on a three level scale where higher is broader about 0.08 points lower on average.

Admixed Latin American CANDELA participants from Brazil, Chile, Colombia, Mexico and Peru · 5,958 people · Table 1 (rs927833: effect, percentage of variance, replication P); Introduction (three-point ordinal phenotyping); Results first paragraph and Figure 1 legend (ordinal GWAS in 5,958 individuals)

Evidence: Genome-wide association with independent replication
Who was studied: Admixed Latin American CANDELA participants from Brazil, Chile, Colombia, Mexico and Peru

1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
Region	TTBroader	CTMiddle	CCNarrower
All regions2,504 people	10%	24%	66%
Africa661 people	35%	47%	18%
The Americas347 people	5%	32%	63%
East Asia504 people	Not seen	6%	94%
Europe503 people	<1%	16%	84%
South Asia489 people	Not seen	16%	84%

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.

rs927833

The marker

Gene or region: PAX1 region (LINC01432)
Marker: rs927833
Location: Chromosome 20 · GRCh37 22,041,577 · GRCh38 22,060,939
Letters studied: C and T, 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: PAX1 region (LINC01432) · rs927833
Location: Chromosome 20 · GRCh37 22,041,577 · GRCh38 22,060,939
Studied allele: C
Published statistic: effect −0.077 per derived C allele on the ordinal rating, P 1e-9, 0.66% of variance (Table 1); independent replication P 4e-3 in 501 people (Table 1, Follow-up analyses); derived C frequency CEU 92%, YRI 36%, CHB 95%, NAM 59%, CANDELA 77% (Table 3); a later CANDELA GWAS gave P 1e-8 for nostril size at this SNP (Bonfante 2021, GWAS Catalog) (Table 1 (rs927833: effect, percentage of variance, replication P); Introduction (three-point ordinal phenotyping); Results first paragraph and Figure 1 legend (ordinal GWAS in 5,958 individuals))
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 250 / 604 / 1650 · Africa 229 / 310 / 122 · The Americas 19 / 110 / 218 · East Asia 0 / 30 / 474 · Europe 2 / 78 / 423 · South Asia 0 / 76 / 413

See this card in the sample report

Limits

What it cannot tell you

Most people of European or East Asian ancestry carry two copies of the studied allele, so this marker varies mainly in African and Native American ancestry. Rated from photographs in Latin Americans.

A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation (Adhikari et al., 2016)

The same topic

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