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Chunk #9 — METHODS — eQTL analyses

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Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
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Index SNPs (or highly correlated proxies) were also interrogated against a collected database of eQTL results from a range of tissues. Blood cell related eQTL studies included fresh lymphocytes36, fresh leukocytes37, leukocyte samples in individuals with Celiac disease38, whole blood samples39–43, lymphoblastoid cell lines (LCL) derived from asthmatic children44,45, HapMap LCL from 3 populations46, a separate study on HapMap CEU LCL47, additional LCL population samples48–50 (and Mangravite et al. (unpublished)), CD19+ B cells51, primary PHA-stimulated T cells48, CD4+ T cells52, peripheral blood monocytes51,53,54, CD11+ dendritic cells before and after Mycobacterium tuberculosis infection55. Micro-RNA QTLs56 and DNase-I QTLs57 were also queried for LCL. Non-blood cell tissue eQTLs searched included omental and subcutaneous adipose39,50,58, stomach58, endometrial carcinomas59, ER+ and ER- breast cancer tumor cells60, brain cortex53,61,62, pre-frontal cortex63,64, frontal cortex65, temporal cortex62,65, pons65, cerebellum62,65, 3 additional large studies of brain regions including prefrontal cortex, visual cortex and cerebellum, respectively66, liver58,67–70, osteoblasts71, intestine72, lung73, skin50,74 and primary fibroblasts48. Micro-RNA QTLs were also queried for gluteal and abdominal adipose75. Only results that reach study-wise significance thresholds in their respective datasets were included (Supplementary table