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. Author manuscript; available in PMC: 2015 Oct 1.
Published in final edited form as: Curr Opin Immunol. 2014 Jul 31;30:63–71. doi: 10.1016/j.coi.2014.07.001

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.

a

Discovery.

b

Replication.

c

Meta-analysis.