Table 1. Examples of primary human cell types and tissues for which eQTL analyses have been reported.
Study | Cell or tissue type | Condition | n | Ethnicity | Cohort | Ref. |
---|---|---|---|---|---|---|
Peripheral blood | ||||||
Fehrmann et al. (2011) | Whole blood | Venesection | 1469 | European | UC (49); CeD (111); COPD (453); ALS cases and controls (856) | [14•] |
Mehta et al. (2013) | Whole blood | Venesection | 322a, 740 + 653b | European | Population cohorts | [46] |
Westra et al. (2013) | Whole blood | Venesection | 5311c, 2775b | European | 9 cohorts | [8••] |
Goring et al. (2007) | PBMCs | Freshly isolated | 1240 | Mexican-American | San Antonio Family Heart Study | [47] |
Zeller et al. (2010) | CD14+ monocytes | Freshly isolated | 1490 | European | Gutenberg Heart Study | [48•] |
Fairfax et al. (2012) | CD14+ monocytes | Freshly isolated | 283 | European | Healthy volunteers | [13•] |
Fairfax et al. (2014) | CD14+ monocytes | Unstimulated, LPS, IFNγ | 432 | European | Healthy volunteers | [9••] |
Raj et al. (2014) | CD14+ monocytes | Freshly isolated | 401 | Multi-ethnic | Healthy volunteers | [41] |
Fairfax et al. (2012) | CD19+ B cells | Freshly isolated | 283 | European | Healthy volunteers | [13•] |
Raj et al. (2014) | CD4+ T cells | Freshly isolated | 407 | Multi-ethnic | Healthy volunteers | [41] |
Ferraro et al. (2014) | CD4+ T cells | Freshly isolated | 168 | European | T1D (60), T2D (30), healthy controls (78) | [49] |
Ferraro et al. (2014) | CD4 + FOXP3+ regulatory T cells | Freshly isolated | 168 | European | T1D (60), T2D (30), healthy controls (78) | [49] |
Dimas (2013) | Mixed T cell population | PHA stimulated (from umbilical cord blood) | 75 | European | Newborns | [17••] |
Lee (2014) | Monocyte-derived dendritic cells | Unstimulated, LPS, influenza A, IFNβ | 534 | European | Healthy volunteers | [25••] |
Other cell and tissue types | ||||||
Dimas et al. (2013) | Fibroblasts | From umbilical cord blood | 75 | European | Newborns | [17••] |
Wagner et al. (2014) | Fibroblasts | From forearm skin | 62 | European | Healthy donors | [50] |
Zhong et al. (2010) | Adipose tissue (omental) | Surgical resection | 916 | European | Gastric bypass surgery patients | [51] |
Zhong et al. (2010) | Adipose tissue (subcutaneous) | Surgical resection | 870 | European | Gastric bypass surgery patients | [51] |
Fu et al. (2012) | Adipose tissue (visceral) | Surgical resection | 77 | European | Elective bariatric surgery patients | [52] |
Fu et al. (2012) | Adipose tissue (subcutaneous) | Surgical resection | 83 | European | Elective bariatric surgery patients | [52] |
Ding et al. (2010) | Skin | Biopsy | 110 | European | Psoriasis patients (53), healthy controls (57) | [53] |
Schadt et al. (2008) | Liver | Postmortem and surgical resection | 427 | European | Liver collections at tissue resource centres | [54] |
Zhong et al. (2010) | Liver | Surgical resection | 707 | European | Gastric bypass surgery patients | [51] |
Innocenti et al. (2011) | Liver | Surgical | 266 | European and African | Donor | [55] |
Fu et al. (2012) | Liver | Surgical resection | 74 | European | Elective bariatric surgery patients | [52] |
Myers et al. (2007) | Brain | Postmortem | 193 | European | Neuropathologically normal human brain samples | [56] |
Hao et al. (2012) | Lung | Lung resection (non neoplastic sample pulmonary parencyhma) | 1111 | European | Patients undergoing lung surgery for cancer | [57] |
Fu et al. (2012) | Skeletal muscle | Surgical resection | 83 | European | Elective bariatric surgery patients | [52] |
n, number of individuals in eQTL analysis. PBMCs, peripheral blood mononuclear cells; UC, ulcerative colitis; CeD, celiac disease; COPD, chronic obstructive pulmonary disease; ALS, amyotrophic lateral sclerosis; T1D, type 1 diabetes; T2D, type 2 diabetes.
Discovery.
Replication.
Meta-analysis.