Association of the PINX1 Variant rs6984094, Which Lengthens Telomeres, with Systemic Lupus Erythematosus Susceptibility in Chinese Populations

Figure 1

Bioinformatic analysis supports the functional role of systemic lupus erythematosus-associated rs6984094. (a) According to the RegulomeDB database, the relative height of each letter is proportional to its overenrichment in the motif. A line is boxed around rs6984094-T; this systemic lupus erythematosus-associated allele is predicted to form the 3rd nucleotide in the motif. (b) Altering the rs6984094 allele from protective allele C to risk allele T increased the binding affinity for transcription factors TATA_Known2, TATA_Known4, and TATA_Known5 according to HaploReg v4.1 database. (c) Genetic signatures of population selection in the human genome. Shown is the detailed global allele frequency distribution of the single-nucleotide polymorphism (SNP) rs6984094 in 53 world populations.

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