A loss of function variant in CASP7 protects against Alzheimer’s disease in homozygous APOE ε4 allele carriers

BMC Genomics

Table 3 rs10553596-c allele is associated with lower CASP7 gene expression level

Tissue	Reporter ID	Effective allele	eQTL P-value	eQTL direction	Sample size
Lung	100139172_TGI_at	c	2.6e-44	↓	1111
Prefrontal cortex	10023817180	c	1.5e-21	↓	583
Visual cortex	10023817180	c	4.0e-11	↓	409
Cerebellum	10023817180	c	5.7e-12	↓	496
Liver	10023817180	c	2.1e-23	↓	563
Omental fat	10023817180	c	2.6e-62	↓	675
Subcutaneous fat	10023817180	c	1.6e-29	↓	611

Expressional QTLs (eQTLs) between rs10553596 and CASP7 expression level were reported in large tissue collections, including lung [40], brain regions [41], liver [42] and fat tissues [42]. In lung eQTL study, Affymetrix HU133 array was used; and in other eQTL studies, Agilent Human44K1.1 array were employed

ISSN: 1471-2164