Functional and association analysis of an Amerindian-derived population-specific p.(Thr280Met) variant in RBPJL, a component of the PTF1 complex.

In a cross-sectional study of urban-dwelling American Indians informative for T2D status living near Phoenix, AZ, the Met280 allele had a directionally consistent effect on T2D association ( N = 2993, Met allele frequency = 0.04, OR = 1.19[0.87–1.62], ESM Table 5 ), however, the P -value did not reach statistical significance ( P -value = 0.27).

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Comparing the expression of known Rbpjl target genes, Cel , Ctrb , Cpa1 , Cpa2 , and Cela1 , between untreated and Rbpjl siRNA treated cells showed a highly significant reduction in the expression of all five target genes; whereas B2m , which is not regulated by Rbpjl, showed no difference in expression between the untreated and Rbpjl knockdown cells (Fig. 1 ).

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