rs116480994 - POLR1H, POLR1HASP

Magnitude 2.2 · 3 studies on file

Reported associations

  • Overlapping common genetic architecture between major depressive disorders and anxiety and stress-related disorders. - Progress in neuro-psychopharmacology & biological psychiatry (2022) · Mei L, Gao Y, Chen M, Zhang X, Yue W, Zhang D, Yu H · PubMed 34634379

    Major depressive disorders (MDDs) and anxiety and stress-related disorders (ASRDs) have overlapping symptoms and high rates of comorbidity. However, the underlying mechanisms remain largely unknown. Here, we aimed to examine whether MDD and ASRD share genetic risk factors utilizing recent large-scale genome-wide association studies (GWASs). To examine the genetic overlap between MDD and ASRD, we applied genetic correlation analysis to analyze GWAS summary statistics for MDD (16,823 cases and 25,632 controls) and ASRD (12,665 cases and 19,225 controls). We found positive and significant genetic correlations between MDD and ASRD (GNOVA: rho = 0.59, se = 0.01, P = 5.32 × 10 ). Our latent causal variable (LCV) analysis indicated the genetic correlation result from pleiotropic effects

  • Genome-wide association meta-analysis identifies pleiotropic risk loci for aerodigestive squamous cell cancers - Unknown journal (n.d.) · Unknown authors · PubMed 33667223

    ABSTRACT: Squamous cell carcinomas (SqCC) of the aerodigestive tract have similar etiological risk factors. Although genetic risk variants for individual cancers have been identified, an agnostic, genome-wide search for shared genetic susceptibility has not been performed. To identify novel and pleotropic SqCC risk variants, we performed a meta-analysis of GWAS data on lung SqCC (LuSqCC), oro/pharyngeal SqCC (OSqCC), laryngeal SqCC (LaSqCC) and esophageal SqCC (ESqCC) cancers, totaling 13,887 cases and 61,961 controls of European ancestry. We identified one novel genome-wide significant (Pmeta<5x10-8) aerodigestive SqCC susceptibility loci in the 2q33.1 region (rs56321285, TMEM273). Additionally, three previously unknown loci reached suggestive significance (Pmeta<5x10-7): 1q32.1 (rs121337

  • Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes - Unknown journal (n.d.) · Unknown authors · PubMed 28604730

    ABSTRACT: Summary While several lung cancer susceptibility loci have been identified, much of lung cancer heritability remains unexplained. Here, 14,803 cases and 12,262 controls of European descent were genotyped on the OncoArray and combined with existing data for an aggregated GWAS analysis of lung cancer on 29,266 patients and 56,450 controls. We identified 18 susceptibility loci achieving genome wide significance, including 10 novel loci. The novel loci highlighted the striking heterogeneity in genetic susceptibility across lung cancer histological subtypes, with four loci associated with lung cancer overall and six with lung adenocarcinoma. Gene expression quantitative trait analysis (eQTL) in 1,425 normal lung tissues highlighted RNASET2, SECISBP2L and NRG1 as candidate genes. Other


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Lifestyle context

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

Discuss with your doctor

  • aerodigestive cancer surveillance given genetic risk Moderate

    Carriers of this variant show 1.23-fold increased risk for aerodigestive squamous cell cancer

    Schedule discussion about screening modality and intervals with your physician