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A genome-wide association study in African Americans uncovers loci influencing interleukin (IL)-10 and IL-1Ra plasma levels

Tuesday, October 25, 2011 — Poster Session II

Noon – 2:00 p.m.

Natcher Conference Center




  • F Tekola Ayele
  • A Doumatey
  • H Huang
  • J Zhou
  • G Chen
  • D Shriner
  • A Adeyemo
  • C Rotimi


Interleukins are key mediators of inflammation in several metabolic disorders. The plasma levels of IL-10 and IL-1Ra show large inter-individual variations, and are under strong genetic control (heritability of 50-75%). We conducted a genome-wide association (GWA) analysis of 5,396,780 imputed and experimentally determined single nucleotide polymorphisms (SNPs) in 707 African Americans from the Howard University Family Study cohort. Eleven SNPs reached genome-wide significance for IL-10 levels. The top associated SNP, rs5743185 was in the PMS1 gene (p=2.3x10-10) and has been implicated in systolic blood pressure in the same cohort. Our findings corroborate previous observations that suggest patho-physiological relationship between IL-10 levels and blood pressure, and the identified loci provide additional evidence that IL-10 and BP regulation may be under common genetic influence. The top associated two SNPs (p=2.55x10-7) with IL-1Ra levels were in the ASB3 gene. Notable among the other top IL-1Ra associated SNPs was a cluster of 10 SNPs within a 21.8 kb interval on chromosome 2q14 that harbors the IL1 family genes. Our study provides the first GWA-based evidence for common variants that influence IL-10 and IL-1Ra plasma levels and adds to the evidence that these interleukins play a major role in inflammation and blood pressure regulation.

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