Table 1.
Results summary of GWAS for microbial features
ID | Chr | Position | rsID | Effect allele | EAF | Other allele | Microenv. | Feature | N (total) | Beta ± s.e. | P value | Genes |
---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 2 | 17323400 | rs1396075 | T | 0.76 | A | Moist | c.Gammaproteobacteria | 563 | 0.37 ± 0.067 | 3.4×10−08 | ■ |
2 | 2 | 43812831 | rs12466030 | A | 0.66 | G | Moist | a.ASV070 [Veillonella (unc.)] | 226 | 0.583 ± 0.103 | 1.7×10-08 | THADA |
3 | 3 | 9164097 | rs2664121 | T | 0.73 | G | Dry | g.Micrococcus | 402 | −0.33 ± 0.112 | 4.3×10-09 | ENSG00000269886,SRGAP3 |
4 | 3 | 12514124 | rs709165 | G | 0.54 | A | Moist | a.ASV006 [S. hominis] | 398 | 0.379 ± 0.069 | 4.0×10-08 | MKRN2,MKRN2OS,RAF1,RNA5SP123,TSEN2 |
5 | 4 | 3266916 | rs2159173 | A | 0.93 | T | Sebaceous | a.ASV093 [Staphylococcus (unc.)] | 276 | −0.957 ± 0.159 | 1.8×10-09 | HTT,MSANTD1,RGS12 |
6 | 4 | 55057749 | rs55702239 | G | 0.77 | A | Dry | o.Bacteroidales,g.Bacteroides | 349 | −0.43 ± 0.103 | 3.5×10-08 | FIP1L1,PDGFRA |
7 | 5 | 14584609 | rs152620 | A | 0.79 | T | Moist | g.Acinetobacter | 454 | −0.444 ± 0.081 | 3.7×10-08 | OTULINL |
8 | 6 | 69060156 | rs9445997 | T | 0.62 | C | Sebaceous | g.Staphylococcus | 569 | −0.328 ± 0.06 | 4.0×10-08 | ■ |
9 | 6 | 93109029 | rs2757026 | C | 0.51 | T | Moist | f.Clostridiales_Incertae_Sedis_XI | 363 | −0.404 ± 0.072 | 2.2×10-08 | ■ |
10 | 6 | 144022040 | rs9484795 | T | 0.77 | C | Dry | g.Anaerococcus | 352 | −0.41 ± 0.132 | 3.4×10-08 | PHACTR2 |
11 | 7 | 57369680 | rs11762959 | A | 0.55 | G | Moist | o.Lactobacillales | 489 | 0.348 ± 0.064 | 4.5×10-08 | ■ |
12 | 7 | 57369974 | rs7791487 | A | 0.56 | T | Moist | f.Streptococcaceae | 458 | 0.378 ± 0.064 | 3.4×10-09 | ■ |
13 | 8 | 125763112 | rs59379063 | T | 0.92 | A | Sebaceous | a.ASV093 [Staphylococcus (unc.)] | 279 | −0.733 ± 0.133 | 3.2×10-08 | ■ |
14 | 9 | 126919126 | rs10121400 | T | 0.64 | A | Moist | o.Burkholderiales | 509 | −0.354 ± 0.063 | 2.4×10-08 | ■ |
15 | 11 | 106233170 | rs17105612 | G | 0.94 | A | Moist | a.ASV013 [S. epidermidis] | 361 | −0.928 ± 0.165 | 1.8×10-08 | ■ |
16 | 12 | 96938142 | rs12423627 | T | 0.93 | C | Sebaceous | a.ASV002 [Staphylococcus (unc.)] | 568 | 0.653 ± 0.113 | 6.9×10-09 | CFAP54 |
17 | 12 | 101194600 | rs4764996 | G | 0.93 | A | Dry | a.ASV013 [S. epidermidis] | 348 | −1.2 ± 0.204 | 2.1×10-08 | ANO4 |
18 | 13 | 33581388 | rs1543797 | T | 0.75 | C | Dry | Beta-diversity | 511 | ■ | 3.2×10-08 | ■ |
19 | 13 | 38067575 | rs12583353 | A | 0.89 | G | Dry | g.Paracoccus | 372 | −0.94 ± 0.144 | 5.6×10-10 | ■ |
20 | 14 | 33629140 | rs17100281 | G | 0.94 | A | Moist | a.ASV021 [Micrococcus (unc.)] | 331 | −0.969 ± 0.176 | 3.7×10-08 | NPAS3 |
21 | 16 | 28056516 | rs8049083 | C | 0.72 | A | Sebaceous | a.ASV004 [Corynebacterium (unc.)] | 505 | −0.378 ± 0.068 | 2.8×10-08 | GSG1L |
22 | 17 | 5341050 | rs2472614 | G | 0.89 | C | Dry | a.ASV086 [A. johnsonii] | 255 | −1.08 ± 0.186 | 4.7×10-08 | C1QBP,DERL2,DHX33,ENSG00000263272,MIS12,NUP88,RABEP1,RPAIN |
23 | 19 | 48742067 | rs6509364 | C | 0.65 | T | Moist | f.Rhodobacteraceae | 377 | −0.415 ± 0.072 | 8.5×10-09 | CARD8,TMEM143,ZNF114 |
Single variant association tests were performed for each sample type and each microbial feature. Tests were adjusted for age, sex, body mass index (BMI) and genetic background (first ten genetic principal components). Positions are given as in genome assembly hg19 (GRCh37). Effect allele frequency (EAF) and total sample number (N) for the meta-analysis (sample pairs for dry) are shown. Results from moist and sebaceous skin sites were combined by meta-analysis (using METAL software for beta diversity and METASOFT software for univariate microbial features) and considered significant when PMeta value were genome-wide significant (PMeta < 5 × 10−8) and data sets were nominal significant (P < 0.05). Loci from dry data sets were considered significant when at least one data set resulted in genome-wide significance (lowest P value shown as PMeta) and the other in nominal significance. Meta-analyses were weighted by sample size for multivariate microbial feature and by inverse variance for univariate features. Effect sizes (β) and its standard error (s.e.) from meta-analyses are shown for moist and sebaceous. Effect size and standard error from tests with volar forearm are shown for dry skin. Tests were two-sided. Candidate causal variants were identified by fine-mapping or based on LD > 0.6 to the lead genetic variant. Genes with variants within their region (no formatted font) or with variants associated with their expression (italic font) are shown. Genes are shown in bold font when both conditions are met. Microbial features are prefixed with their level, amplicon variant sequence (a.), genus (g.), family (f.), order (o.), class (c.) or phylum (p.). Association with rs55702239 in dry sites have been identified with the non-redundant features o.Bacteroidales and g.Bacteroides. For simplicity, only statistics related to the genus level is shown in this case. ENSG00000263272 is a novel transcript, antisense to RPAIN and ENSG00000269886 is a novel transcript, antisense to TTLL3.