Total RNA (500 ng) was reverse transcribed with oligo (dT) primers and MultiScribe Reverse Transcriptase, using the TaqMan Gold RT-PCR Kit (Invitrogen), according to the manufacturer's instructions. Allele specific expression for rs12476147 coding variant was performed in cDNA from heterozygous individuals using a pre-validated TaqMan 5′-allele discrimination assays (Applied Biosystems, Assay ID), see Section 2.2 Genotyping for assay details. A 1.5 μl sample of the cDNA synthesized in the RT reaction was used in a real-time PCR reaction (12.5 μl total assay volume). To investigate whether this assay could be utilized to detect the allele difference accurately, genomic DNA from two homozygous individuals were mixed in the following ratios: 8:1, 4:1, 2:1, 1:1, 1:2, 1:4, 1:8. These two allele mixes were quantified by the same method. For normalization, the same assay was also performed on 45 heterozygous genomic DNA samples. The average allele ratio from all genomic DNA samples was used as a correction factor for all genomic DNA and cDNA allele ratios, since this could be assumed to reflect a perfect 1:1 ratio of the two alleles and could
