Results: 3

1.
Figure 2

Figure 2. From: Evolutionary and Functional Analysis of Celiac Risk Loci Reveals SH2B3 as a Protective Factor against Bacterial Infection.

Example of EHH Plot of SH2B3 rs3184504 SNP in European and Saharawi Populations
(A) European (UK controls) population.
(B) Saharawi population.
Blue shows the derived haplotype; red shows the ancestral haplotype. Included are 1.4 Mb left and right from rs3184504. EHH plots for all the selected SNPs and all the studied populations are presented in Figure S1A–S1C.

Alexandra Zhernakova, et al. Am J Hum Genet. 2010 June 11;86(6):970-977.
2.
Figure 3

Figure 3. From: Evolutionary and Functional Analysis of Celiac Risk Loci Reveals SH2B3 as a Protective Factor against Bacterial Infection.

Worldwide Allele Frequency Distribution of rs3184504 in SH2B3
The derived allele is the CD risk allele that shows a signature of recent selection in our European study populations. In this figure, the rs3184504 alleles are annotated on the reverse strand.

Alexandra Zhernakova, et al. Am J Hum Genet. 2010 June 11;86(6):970-977.
3.
Figure 1

Figure 1. From: Evolutionary and Functional Analysis of Celiac Risk Loci Reveals SH2B3 as a Protective Factor against Bacterial Infection.

Functional Consequences of IL18RAP and SH2B3 Genotypes
(A) Individual gene expression correlation of IL18RAP with rs917997 from 1469 PAXgene samples (1240 hybridized to Illumina HT-12 arrays; 229 hybridized to Illumina Ref-8 v2 arrays). Spearman correlation coefficients are shown for HT-12 and Ref-8 v2 data, and meta-analysis p value results are shown (L.F., unpublished data).
(B) Differences between the SH2B3 genotype after LPS stimulation show a moderately reduced IL-6 cytokine production in PBMCs isolated from individuals heterozygous for the celiac risk allele.
(C and D) After MDP stimulation, a specific ligand of the NOD2 innate immune receptor, homozygous individuals carrying the risk allele showed an increased production of the IL-6 and IL1-β cytokines.
(E) IL-8 production in these individuals also showed an elevated production of the cytokine.
All data in panels (B)–(E) are presented as means and standard deviation (SD). The total number of individuals for each SH2B3 genotype is given under each bar and only the significant differences are included (Mann-Whitney U test).

Alexandra Zhernakova, et al. Am J Hum Genet. 2010 June 11;86(6):970-977.

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