Table 4.
SNP ID | Chr | Position (hg38) | Minor Allele | Minor Allele Frequency |
Nasal Epithelial Cells |
Esophagus Mucosa (GTEx) |
||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
YRI | CEU | PUR* | β | P Value | Gene | β | P Value | Gene | ||||
rs10920079 | 1 | 200950242 | C | 0.47 | 0.05 | 0.33 | −0.19 | 1.31 × 10−9 | TMEM9 | −0.36 | 1.60 × 10−5 | MROH3P |
rs10920072 | 1 | 200942726 | A | 0.66 | 0.06 | 0.42 | −0.21 | 2.00 × 10−9 | TMEM9 | −0.36 | 1.40 × 10−5 | MROH3P |
Definition of abbreviations: CEU = Utah Residents with Northern and Western European ancestry; Chr = chromosome; GTEx = Genotype-Tissue Expression Project; PUR = Puerto Ricans from Puerto Rico; YRI = Yoruba in Ibadan, Nigeria.
The expression quantitative trait locus mapping in nasal epithelial cells identified two significant cis-acting expression quantitative trait loci of TMEM9. These SNPs were also significantly associated with MROH3P expression in esophagus mucosa according to GTEx data. The minor allele of these SNPs tracked with African population, and these alleles were also found more frequently among our study participants than among people with European ancestry.
Minor allele frequency computed from the Puerto Rican study participants (n = 836).