rs11165846 - DPYD

Magnitude 2.0 · 2 studies on file

Reported associations

• Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. - Clinical infectious diseases : an official publication of the Infectious Diseases Society of America (2011) · Ramsuran V, Kulkarni H, He W, Mlisana K, Wright EJ, Werner L, Castiblanco J, Dhanda R, Le T, Dolan MJ, Guan W, Weiss RA, Clark RA, Karim SS, Ahuja SK, Ndung'u T · PubMed 21507922

  The Duffy-null trait and ethnic netropenia are both highly prevalent in Africa. The influence of pre-seroconversion levels of peripheral blood cell counts (PBCs) on the risk of acquiring human immunodeficiency virus (HIV)-1 infection among Africans is unknown. The triangular relationship among pre-seroconversion PBC counts, host genotypes, and risk of HIV acquisition was determined in a prospective cohort of black South African high-risk female sex workers. Twenty-seven women had seroconversion during follow-up, and 115 remained HIV negative for 2 years, despite engaging in high-risk activity. Pre-seroconversion neutrophil counts in women who subsequently had seroconversion were significantly lower, whereas platelet counts were higher, compared with those who remained HIV negative. Compris

• Mapping genomic loci implicates genes and synaptic biology in schizophrenia - Unknown journal (n.d.) · Unknown authors · PubMed 35396580

  ABSTRACT: SUMMARY Schizophrenia has a heritability of 60-80%, much of which is attributable to common risk alleles. Here, in a 2-stage genome-wide association study of up to 76,755 people with schizophrenia and 243,649 controls, we report common variant associations at 287 distinct genomic loci. Associations were concentrated in genes expressed in CNS neurons, excitatory and inhibitory, but not other tissues or cell types. Using fine-mapping and functional genomic data, we identify 120 genes (106 protein-coding) as likely to underpin associations at some of these loci, including 16 genes with credible causal non-synonymous or UTR variation. We also implicate fundamental processes related to neuronal function, including synaptic organisation, differentiation, and transmission. Fine-mapped

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