rs12283022 - DYNC2H1

Magnitude 4.5 · 1 study on file

Reported associations

  • Genome-wide association study of ancestry-specific TB risk in the South African Coloured population. - Human molecular genetics (2014) · Chimusa ER, Zaitlen N, Daya M, Möller M, van Helden PD, Mulder NJ, Price AL, Hoal EG · PubMed 24057671

    The worldwide burden of tuberculosis (TB) remains an enormous problem, and is particularly severe in the admixed South African Coloured (SAC) population residing in the Western Cape. Despite evidence from twin studies suggesting a strong genetic component to TB resistance, only a few loci have been identified to date. In this work, we conduct a genome-wide association study (GWAS), meta-analysis and trans-ethnic fine mapping to attempt the replication of previously identified TB susceptibility loci. Our GWAS results confirm the WT1 chr11 susceptibility locus (rs2057178: odds ratio = 0.62, P = 2.71e(-06)) previously identified by Thye et al., but fail to replicate previously identified polymorphisms in the TLR8 gene and locus 18q11.2. Our study demonstrates that the genetic contribution to


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Lifestyle context

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

Discuss with your doctor

  • tuberculosis screening and preventive therapy Moderate

    This genetic variant shows strong association with tuberculosis susceptibility in GWAS, with carriers having approximately 7-fold increased odds.

    Discuss TB screening and preventive therapy with your doctor, especially if exposed to TB