rs117626015 - PDZRN4

Magnitude 4.5 · 1 study on file

Reported associations

  • A genome-wide association study identifies susceptibility loci of silica-related pneumoconiosis in Han Chinese. - Human molecular genetics (2015) · Chu M, Ji X, Chen W, Zhang R, Sun C, Wang T, Luo C, Gong J, Zhu M, Fan J, Hou Z, Dai J, Jin G, Wu T, Chen F, Hu Z, Ni C, Shen H · PubMed 24986923

    Pneumoconiosis is the most serious occupational disease in China and its leading cause is occupational silica exposure. Pneumoconiosis takes several years to develop depending on the exposure level of silica. However, individual variation in the susceptibility to pneumoconiosis has been observed among the subjects with similar exposure. We conducted a genome-wide screening with 710,999 single nucleotide polymorphisms (SNPs) in a cohort of 400 coal workers (202 cases and 198 exposed controls) for pneumoconiosis susceptible loci. Seven promising variants were evaluated in an independent cohort of 568 coal workers (323 cases and 245 exposed controls), followed by a second replication on 463 iron ore workers (167 cases and 296 exposed controls). By pooling all of the genome-wide association st


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • silica-related pneumoconiosis risk discussion High

    rs117626015 is associated with 2.4-fold increased pneumoconiosis risk upon occupational silica exposure