rs12037853 (SLC25A38P1): Fungal Skin Infection Risk

Q: What is rs12037853?

rs12037853 is a genetic variant (a single-letter change in DNA) located near two pseudogenes, SLC25A38P1 and AIMP1P2. It was identified in a large genetic study as one of 30 locations in the genome linked to susceptibility to dermatophytosis, a fungal infection of skin, nails, and hair commonly known as ringworm.

Q: What are SLC25A38P1 and AIMP1P2?

Both are pseudogenes, meaning they are non-protein-coding copies of functional genes (SLC25A38 and AIMP1 respectively). Some pseudogenes play regulatory roles even without producing protein. Their specific functional role in skin infection susceptibility has not been established in the available research.

Q: Is rs12037853 linked to ringworm or fungal skin infections?

A 2026 study in Nature Communications identified rs12037853 as one of 30 genome-wide significant loci for dermatophytosis susceptibility in a meta-analysis of over 256,000 cases and 1.37 million controls. The specific effect size for this locus was not reported in the available study data, and independent replication has not been documented.

Q: What do the GTEx results for rs12037853 mean?

GTEx data from 953 donors shows that one form of rs12037853 (the ALT allele) is associated with reduced expression of nearby genes in tissues including lung, skin, esophagus, and adipose tissue. This is an eQTL (expression quantitative trait locus) finding, meaning the variant influences how much RNA is produced from nearby genes, though this does not by itself establish a causal role in disease.

Q: How strong is the evidence for rs12037853 and ringworm risk?

The underlying meta-analysis is among the largest genetic studies of a fungal infection performed to date, lending general credibility to its findings. However, the specific effect size for this locus was not available in the provided data, the nearest genes are pseudogenes with unclear functional roles, and independent replication of this specific locus has not been reported. The evidence should be considered preliminary.

rs12037853 (SLC25A38P1): Fungal Skin Infection Risk

Key takeaways

rs12037853, near the SLC25A38P1 and AIMP1P2 pseudogenes (non-protein-coding gene copies), is one of 30 genome-wide significant loci linked to dermatophytosis (ringworm) susceptibility in a large genetic study
The discovery meta-analysis included over 256,000 cases and 1.37 million controls from four biobanks, making it one of the largest fungal infection genetic studies to date
GTEx data associates the ALT allele with reduced expression of nearby genes in lung and skin tissues
This locus was not among the top study signals; lead associations in the same study involved keratin, immune, and skin barrier genes
Independent replication specific to this locus is not documented, so the evidence should be considered preliminary

Key takeaways

rs12037853, near the SLC25A38P1 and AIMP1P2 pseudogenes (non-protein-coding gene copies), is one of 30 genome-wide significant loci linked to dermatophytosis (ringworm) susceptibility in a large genetic study
The discovery meta-analysis included over 256,000 cases and 1.37 million controls from four biobanks, making it one of the largest fungal infection genetic studies to date
GTEx data associates the ALT allele with reduced expression of nearby genes in lung and skin tissues
This locus was not among the top study signals; lead associations in the same study involved keratin, immune, and skin barrier genes
Independent replication specific to this locus is not documented, so the evidence should be considered preliminary

What the research says rs12037853 sits near SLC25A38P1 and AIMP1P2, a pair of pseudogenes (non-protein-coding copies of the functional genes SLC25A38 and AIMP1). A 2026 dermatophytosis meta-analysis (dermatophytosis refers to fungal infections of skin, nails, and hair, commonly called ringworm) across FinnGen, the Estonian Biobank, UK Biobank, and the Million Veteran Program identified 30 genome-wide significant loci (those meeting the strict statistical threshold of p < 5 x 10^-8) among 256,822 cases and 1,372,501 controls; this locus was among them, while the strongest individual signals overall were near keratin and immune genes ZNF646, HLA-DQB1, FLG, FTO, SLURP2, and KRT77. GTEx v11 data (953 donors) additionally shows that the ALT allele at this locus is associated with reduced expression of two nearby genes across skin, lung, esophageal, and adipose tissues GTEx Portal.

Reported associations

Dermatophytosis susceptibility: one of 30 genome-wide significant loci from a 2026 meta-analysis of 256,822 cases and 1,372,501 controls across FinnGen, Estonian Biobank, UK Biobank, and Million Veteran Program; specific odds ratio for this locus not available in the provided study text

Evidence quality The underlying meta-analysis combined data from FinnGen (27,662 cases, 471,729 controls), UK Biobank (27,755 cases, 380,368 controls), Estonian Biobank (50,241 cases, 106,586 controls), and the Million Veteran Program (151,164 cases, 413,818 controls), totaling 256,822 cases and 1,372,501 controls, making it one of the largest genetic studies of a fungal infection published to date. Thirty loci reached genome-wide significance (p < 5 x 10^-8), with rs12037853 among them; however, the specific p-value and odds ratio for this locus are not available in the provided study text, and it is not listed among the highlighted lead associations. The nearest genes are pseudogenes whose direct functional relevance to dermatophytosis susceptibility is not established in the provided material, and no independent replication of this specific locus is reported. The GTEx eQTL findings (expression quantitative trait loci, meaning the variant influences RNA levels of nearby genes) are from a well-powered reference dataset (953 donors, FDR < 0.05), indicating a regulatory effect, but eQTL associations do not themselves establish a causal disease role. The evidence for this specific locus is best characterized as preliminary.

Tissue-specific expression effects

Locus gene ENSG00000224000: the ALT allele is associated with reduced expression in esophageal tissue (both gastroesophageal junction and muscularis), subcutaneous adipose tissue, lung, and both sun-exposed and non-sun-exposed skin GTEx Portal
Locus gene ENSG00000301437: the ALT allele is associated with reduced expression in heart atrial appendage and lung GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs12037853?

rs12037853 is a genetic variant (a single-letter change in DNA) located near two pseudogenes, SLC25A38P1 and AIMP1P2. It was identified in a large genetic study as one of 30 locations in the genome linked to susceptibility to dermatophytosis, a fungal infection of skin, nails, and hair commonly known as ringworm.

What are SLC25A38P1 and AIMP1P2?

Both are pseudogenes, meaning they are non-protein-coding copies of functional genes (SLC25A38 and AIMP1 respectively). Some pseudogenes play regulatory roles even without producing protein. Their specific functional role in skin infection susceptibility has not been established in the available research.

Is rs12037853 linked to ringworm or fungal skin infections?

A 2026 study in Nature Communications identified rs12037853 as one of 30 genome-wide significant loci for dermatophytosis susceptibility in a meta-analysis of over 256,000 cases and 1.37 million controls. The specific effect size for this locus was not reported in the available study data, and independent replication has not been documented.

What do the GTEx results for rs12037853 mean?

GTEx data from 953 donors shows that one form of rs12037853 (the ALT allele) is associated with reduced expression of nearby genes in tissues including lung, skin, esophagus, and adipose tissue. This is an eQTL (expression quantitative trait locus) finding, meaning the variant influences how much RNA is produced from nearby genes, though this does not by itself establish a causal role in disease.

How strong is the evidence for rs12037853 and ringworm risk?

The underlying meta-analysis is among the largest genetic studies of a fungal infection performed to date, lending general credibility to its findings. However, the specific effect size for this locus was not available in the provided data, the nearest genes are pseudogenes with unclear functional roles, and independent replication of this specific locus has not been reported. The evidence should be considered preliminary.

Expressive opens up early access