rs1168097 (DOCK7): Lipid and Expression Variant
Key takeaways
- rs1168097 was identified in a genome-wide study of over 180 blood lipid species measured across more than 5,000 South Asian and 13,000 British participants
- The alternate allele consistently increases DOCK7 gene activity across 8 tissue types including whole blood, aorta, and skin
- All tissue expression effects point in the same direction, namely increased DOCK7 activity, not decreased
- Evidence for this variant's effect on specific lipid species is preliminary, with full statistical details not available in the source study text
- The expression signal in cultured fibroblasts is extremely statistically robust at p = 1.3 x 10^-60
Key takeaways
- rs1168097 was identified in a genome-wide study of over 180 blood lipid species measured across more than 5,000 South Asian and 13,000 British participants
- The alternate allele consistently increases DOCK7 gene activity across 8 tissue types including whole blood, aorta, and skin
- All tissue expression effects point in the same direction, namely increased DOCK7 activity, not decreased
- Evidence for this variant's effect on specific lipid species is preliminary, with full statistical details not available in the source study text
- The expression signal in cultured fibroblasts is extremely statistically robust at p = 1.3 x 10^-60
What the research says A genome-wide lipidomics study profiled 181 lipid metabolites in 5,662 hospital controls from the Pakistan Risk of Myocardial Infarction Study (PROMIS) and 244 lipid metabolites in 13,814 healthy British blood donors from the INTERVAL study, identifying rs1168097 in the context of cardiometabolic disease loci. Gene expression data from GTEx v11 (953 donors, FDR < 0.05) shows that the alternate allele of this variant is robustly linked to increased DOCK7 expression across eight tissue types, with log2-normalized slope values ranging from +0.18 in tibial artery to +0.35 in cultured fibroblasts, all effects pointing in the same direction GTEx Portal.
Reported associations
- Blood lipid metabolites (South Asian cohort): Identified in a lipidomics GWAS covering 181 lipid species in 5,662 PROMIS controls from Pakistan; specific effect sizes for this variant on individual lipid species are not detailed in the available study text
- Blood lipid metabolites (British cohort): Identified in a parallel lipidomics GWAS covering 244 lipid species in 13,814 INTERVAL blood donors from the UK; specific effect sizes for this variant are not detailed in the available study text
- DOCK7 expression in whole blood: Increased expression with slope +0.34 and p = 3.6 x 10^-27 GTEx Portal
- DOCK7 expression in aorta: Increased expression with slope +0.27 and p = 1.2 x 10^-23 GTEx Portal
- DOCK7 expression in tibial artery: Increased expression with slope +0.18 and p = 2.1 x 10^-18 GTEx Portal
- DOCK7 expression in sun-exposed lower leg skin: Increased expression with slope +0.25 and p = 1.1 x 10^-21 GTEx Portal
- DOCK7 expression in cultured fibroblasts: Increased expression with slope +0.35 and p = 1.3 x 10^-60 GTEx Portal
- DOCK7 expression in ovary: Increased expression with slope +0.34 and p = 1.7 x 10^-9 GTEx Portal
- DOCK7 expression in esophageal gastroesophageal junction: Increased expression with slope +0.23 and p = 1.5 x 10^-15 GTEx Portal
- DOCK7 expression in esophageal muscularis: Increased expression with slope +0.21 and p = 6.2 x 10^-17 GTEx Portal
Evidence quality The lipidomics GWAS was conducted in two independent cohorts totaling approximately 19,476 participants, providing reasonable statistical power for discovery. However, the available study text does not specify the exact association statistics for rs1168097 on individual lipid species, limiting assessment of effect magnitude and replication status for the lipid associations specifically. The GTEx eQTL evidence is based on 953 donors at FDR < 0.05, with statistically robust signals across all eight reported tissues GTEx Portal. The consistency of effect direction across diverse tissue types, including vascular, immune, reproductive, and gastrointestinal tissues, strengthens confidence in the gene expression finding, though eQTL associations describe gene regulation mechanisms rather than clinical outcomes directly.
Tissue-specific expression effects
- DOCK7: The alternate allele is linked to increased expression in all 8 reported tissue types - cultured fibroblasts, whole blood, aorta, sun-exposed lower leg skin, tibial artery, esophageal muscularis, esophageal gastroesophageal junction, and ovary - with no tissue showing decreased expression GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs1168097?
rs1168097 is a genetic variant in the DOCK7 gene region. It was identified in a genome-wide study examining how genetic differences relate to hundreds of circulating lipid species in South Asian and British populations.
What does rs1168097 do to DOCK7 gene expression?
According to GTEx data from 953 donors, the alternate allele of rs1168097 is linked to increased DOCK7 expression across 8 tissue types, including whole blood, aorta, tibial artery, skin, ovary, cultured fibroblasts, and esophageal tissue. All effects point in the same direction: higher gene activity, not lower.
Is rs1168097 linked to heart disease or lipid levels?
rs1168097 was identified in a lipidomics study focused on cardiometabolic disease loci, examining hundreds of blood lipid species. Specific effect sizes for this variant on individual lipids are not detailed in the available study text, so the relationship to cardiovascular outcomes cannot be stated precisely from the data provided.
Was rs1168097 studied in South Asian populations?
Yes. One source study used data from the PROMIS cohort, consisting of over 5,000 hospital controls from Pakistan, alongside over 13,000 British blood donors, making it one of the larger lipid genetics studies conducted in a South Asian population.
What tissues show DOCK7 expression changes linked to rs1168097?
GTEx data shows the alternate allele increases DOCK7 expression in 8 tissues: cultured fibroblasts, ovary, whole blood, aorta, sun-exposed lower leg skin, esophageal gastroesophageal junction, esophageal muscularis, and tibial artery.