rs11001819 (LRMDA): Lung Function Locus at 10q22.3
Key takeaways
- LRMDA (also called C10orf11) at chromosome 10q22.3 was flagged as a new lung function locus in a genome-wide study of about 94,000 people.
- The locus is linked to FEV1 (air expelled in one second) or FEV1/FVC (ratio of FEV1 to total lung capacity), clinical tests for detecting airflow obstruction.
- GTEx data show the alternative allele is linked to higher gene expression in aortic artery tissue and lower expression in tibial nerve tissue.
- Common lung function variants collectively explain only about 1.5% of FEV1 variance, making each individual locus a modest contributor.
- No lifestyle factors specific to this variant have been identified in the available research.
Key takeaways
- LRMDA (also called C10orf11) at chromosome 10q22.3 was flagged as a new lung function locus in a genome-wide study of about 94,000 people.
- The locus is linked to FEV1 (air expelled in one second) or FEV1/FVC (ratio of FEV1 to total lung capacity), clinical tests for detecting airflow obstruction.
- GTEx data show the alternative allele is linked to higher gene expression in aortic artery tissue and lower expression in tibial nerve tissue.
- Common lung function variants collectively explain only about 1.5% of FEV1 variance, making each individual locus a modest contributor.
- No lifestyle factors specific to this variant have been identified in the available research.
What the research says LRMDA (formerly C10orf11, chromosome 10q22.3) was one of 16 novel loci for pulmonary function reaching genome-wide significance (p < 5x10^-8) in a two-stage GWAS meta-analysis of roughly 48,201 European-ancestry adults at discovery and up to 46,411 at follow-up. FEV1 and FEV1/FVC, the spirometric measures studied, are clinical tools for diagnosing COPD (chronic obstructive pulmonary disease, a condition marked by persistent airflow obstruction) and tracking lung health across populations. Known common lung function variants collectively explain approximately 1.5% of FEV1 variance, indicating that each individual locus is a modest contributor.
Reported associations
- Pulmonary function (FEV1 or FEV1/FVC): The locus was among 16 new genome-wide significant loci (p < 5x10^-8) for spirometric lung function in a two-stage meta-analysis covering approximately 48,201 discovery participants and up to 46,411 follow-up individuals of European ancestry; all 16 loci showed consistent effect direction across both stages with no statistically significant heterogeneity after Bonferroni correction.
Evidence quality The lung function association at this locus was established at genome-wide significance in a two-stage combined sample of roughly 94,000 European-ancestry adults. All 16 novel loci identified in the same analysis showed consistent effect direction across discovery and follow-up stages, and heterogeneity tests were not statistically significant after Bonferroni correction. Association testing was stratified by smoking status to account for its known effects on lung function. The broader field estimate is that known common lung function variants collectively account for only about 1.5% of FEV1 variance, indicating modest contributions per locus. The specific beta coefficient for rs11001819 is not reported in the available study summaries, so the per-allele effect size cannot be stated precisely.
Tissue-specific expression effects
- ENSG00000269256: The alternative allele at rs11001819 is associated with increased expression of this gene in aortic artery tissue and reduced expression in tibial nerve tissue GTEx Portal.
Lifestyle considerations No lifestyle considerations on file for this variant.
Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Lifestyle
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smoking High
G allele reduces FEV1; smoking independently and additively impairs lung function, compounding genetic risk through non-overlapping pathways
avoid smoking initiation; if currently smoking, discuss cessation strategies with healthcare provider
Screening
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baseline and periodic spirometry for lung function High
G allele at rs11001819 is associated with reduced FEV1 (p=2.98e-12 in meta-analysis of 94,612 individuals), a key marker of lung disease risk and COPD severity
baseline spirometry if not previously done; periodic testing every 1-2 years or per clinical judgment
Frequently asked questions
What is the LRMDA gene?
LRMDA (formerly called C10orf11) is a gene on chromosome 10 at position 10q22.3. This gene region has been identified in large-scale genome-wide studies as a locus associated with spirometric measures of pulmonary function, though the exact biological mechanism has not been described in the available research.
Is rs11001819 linked to COPD or breathing problems?
The LRMDA locus was identified in research on FEV1 and FEV1/FVC, spirometric measures used clinically to diagnose and grade COPD. The association reached genome-wide significance across about 94,000 individuals. The available studies report a statistical association and do not establish causality for any individual.
How strong is the evidence for rs11001819 and lung function?
The association reached genome-wide significance (p < 5x10^-8) in a two-stage meta-analysis of roughly 94,000 European-ancestry adults, with consistent effect direction in both discovery and follow-up stages. However, all known common lung function variants together explain only about 1.5% of FEV1 variance, so each individual locus is a modest contributor.
What does GTEx data show for rs11001819?
GTEx data indicate the alternative allele at rs11001819 is associated with increased expression of a nearby gene in aortic artery tissue and decreased expression in tibial nerve tissue. These are expression-QTL effects showing how the variant relates to gene activity in specific tissues, not direct lung function outcomes.
What chromosomal region contains rs11001819?
rs11001819 is located at chromosome 10q22.3, near the LRMDA gene (also known as C10orf11). This region was identified as one of 16 novel loci for pulmonary function in a large two-stage genome-wide association study.