Table 2. Central phenotypes in BSGS and a brief summary of previous studies identifying genetic parameters and association signals.

Phenotypes	Summary	Reference
Hemoglobin concentration	Hemoglobin phenotypes have been associated with SNPs in TMPRSS6, LRRC16A, HK1 and HK2.	[19], [20]
Red blood cell count	Association with SNPs close to IRX6.	[20]
Platelet count	Platelet count has suggestive association with SNPs in KCNIP.	[20]
White blood cell count	White blood cell count has suggestive association with SNPs in MACF1.	[20]
Monocytes	Monocyte count is associated with SNPs close to BAG4 and ITGA4.	[20]
Eosinophils	Eosinophil count has suggestive association with SNPs in ITPR1.	[20]
CD4+/CD8+ T-cell ratio	Collectively, these phenotypes are associated with SNPs in the MHC and the Schlafen family of genes. They are also endophenotypes for Type 1 Diabetes, HIV-1 immune control and autoimmune diseases.	[25]
Plasma Cholesterol (HDL and LDL) and Triglyceride concentrations	A known endophenotypes for cardiovascular disease. Data comprising part of BSGS have shown strong associations between Cholesterol and genes on chromosome 19 and between Triglyceride and genes on chromosome 7.	[18], [22]
Blood pressure	An important endophenotype for hypertension. Data comprising part of BSGS have shown strong associations between blood pressure and genes on chromosomes 4,5,14 and 17.	[23], [24]
Iron, Ferritin and Transferrin levels	Collectively, these phenotypes show association with SNPs in TMPRSS6, HFE, PGM1 and TF.	[19], [61], [62]