Fig. 3: Variant in the 3’UTR of TGFBR1 increases TGFBR1 expression in blood and associates with reduced asthma risk.

a Locus plot showing association with asthma where the lead variant rs41283642 is colored in purple. Other variants are colored by degree of correlation (r²) with the lead variant. b Box plot showing the expression of TGFβR1 in blood of rs41283642_T non-carriers (CC, N = 6677), heterozygotes (CT, N = 294) and homozygotes (TT, N = 9) based on RNA-Seq data; P = 7.24E-101, effect = 1.18 S.D. corresponding to 15.2% increased expression of TGFBR1 per allele. The bottom and top of the boxes correspond to the 25th (Q1) and 75th (Q3) percentiles, the line inside the box corresponds to the median, and the whiskers are located at max(min(Expression), Q1 – 1.5 IQR) and min(max(Expression), Q3 + 1.5 IQR), respectively (where IQR is the interquartile range = Q3 – Q1). c Schematic representation of the primary miR-142 transcript, derived from MIR142 located on chromosome 17q22. The 3′end of miR-142 forms miR-142-3p which is known to targets multiple mRNA transcripts including TGFRB1. The predicted binding site for miR-142-3p at the 3′UTR of TGFBR1 is shown wherein Y represents the ___location of the rs41283642. The reference allele is C, forming a 7mer perfect complementary sequence to the seed sequence of miR-142-3p whereas the protective asthma T_allele (U in RNA), disrupts the 7mer binding site. Source data are provided as a Source Data file.