Figure 2: The ELL2 MM risk allele harbours a Thr298Ala missense variant, and the sentinel SNP rs56219066 is associated with reduced Ig levels. | Nature Communications

Figure 2: The ELL2 MM risk allele harbours a Thr298Ala missense variant, and the sentinel SNP rs56219066 is associated with reduced Ig levels.

From: Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma

Figure 2

(a) Schematic representation of the ELL2 gene showing the location of the sentinel SNP rs56219066 in intron 4 and the correlated variant rs3815768 in exon 7, which causes a Thr298Ala substitution in an ELL2 domain required for transcription elongation. (b) We analysed blood IgA, IgG and IgM levels from 24,279, 21,981 and 20,413 Icelandic individuals without MM or MGUS. We found a significant association between IgA and IgG levels and the ELL2 risk allele (log-linear regression P values shown). Compared with rs56219066C homozygotes, rs56219066T heterozygotes and homozygotes show 5.2 and 10.1% lower IgA and 2.6 and 5.1% lower IgG, respectively. We observed similar effects for IgA and IgG in an independent set of 1,012 Swedish blood donors (Supplementary Fig. 3). Boxes indicate medians and the first and third quartiles. Whiskers indicate first and third quartiles 1.5 times the interquartile range or the minimum/maximum values. Notches indicate confidence intervals around the median. NS, not significant.

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