XG: the forgotten blood group system

Johnson, Nanette

doi:10.21307/immunohematology-2019-177

Cited by 17 publications

(4 citation statements)

References 25 publications

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“…We conducted the same analysis in a control set of males without mLOY and did not find statistically significant SNPs. The XG gene spans the PAR1 boundary, with exons present in the PAR1 region and other exons exclusive to the X chromosome 23,24 . The CD99 gene is exclusive to the PAR1 region 23,24 .…”

Section: Resultsmentioning

confidence: 99%

“…The XG gene spans the PAR1 boundary, with exons present in the PAR1 region and other exons exclusive to the X chromosome 23,24 . The CD99 gene is exclusive to the PAR1 region 23,24 . The rs311103 variant in XG defines the XG blood group system 23,24 but none of the alleles that demonstrated an allelic shift ( Table S14 ) were in linkage disequilibrium (LD) with rs311103, suggesting that the allelic shift impacts CD99 rather than XG .…”

Section: Resultsmentioning

confidence: 99%

“…The CD99 gene is exclusive to the PAR1 region 23,24 . The rs311103 variant in XG defines the XG blood group system 23,24 but none of the alleles that demonstrated an allelic shift ( Table S14 ) were in linkage disequilibrium (LD) with rs311103, suggesting that the allelic shift impacts CD99 rather than XG . Seventeen of the 59 statistically significant SNPs from the allelic shift analyses are expression quantitative trait loci (eQTL) for CD99 in the TOPMed data set.…”

Section: Resultsmentioning

confidence: 99%

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Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood

Jakubek,

Ma,

Stilp

et al. 2024

Preprint

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Mosaic loss of Y (mLOY) is the most common somatic chromosomal alteration detected in human blood. The presence of mLOY is associated with altered blood cell counts and increased risk of Alzheimer's disease, solid tumors, and other age-related diseases. We sought to gain a better understanding of genetic drivers and associated phenotypes of mLOY through analyses of whole genome sequencing of a large set of genetically diverse males from the Trans-Omics for Precision Medicine (TOPMed) program. This approach enabled us to identify differences in mLOY frequencies across populations defined by genetic similarity, revealing a higher frequency of mLOY in the European American (EA) ancestry group compared to those of Hispanic American (HA), African American (AA), and East Asian (EAS) ancestry. Further, we identified two genes (CFHR1 and LRP6) that harbor multiple rare, putatively deleterious variants associated with mLOY susceptibility, show that subsets of human hematopoietic stem cells are enriched for activity of mLOY susceptibility variants, and that certain alleles on chromosome Y are more likely to be lost than others.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood

Jakubek,

Ma,

Stilp

et al. 2024

Preprint

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“…Finally, of the seven clusters, two were located in the pseudo-autosomal region (PAR1) of the sex chromosomes corresponding to the genes XG and CD99 , coding for the two antigens of the XG blood group. This blood group system has been largely neglected, its main contribution related to the mapping of the X chromosome itself, and its clinical role remains elusive 30 . In order to investigate further the possible role of these two variants of the XG blood group, we examined out-of-sample their associations with thousands of non-imaging phenotypes.…”

Section: Discussionmentioning

confidence: 99%

The effects of genetic and modifiable risk factors on brain regions vulnerable to ageing and disease

Manuello,

Min,

McCarthy

et al. 2024

Nat Commun

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We have previously identified a network of higher-order brain regions particularly vulnerable to the ageing process, schizophrenia and Alzheimer’s disease. However, it remains unknown what the genetic influences on this fragile brain network are, and whether it can be altered by the most common modifiable risk factors for dementia. Here, in ~40,000 UK Biobank participants, we first show significant genome-wide associations between this brain network and seven genetic clusters implicated in cardiovascular deaths, schizophrenia, Alzheimer’s and Parkinson’s disease, and with the two antigens of the XG blood group located in the pseudoautosomal region of the sex chromosomes. We further reveal that the most deleterious modifiable risk factors for this vulnerable brain network are diabetes, nitrogen dioxide – a proxy for traffic-related air pollution – and alcohol intake frequency. The extent of these associations was uncovered by examining these modifiable risk factors in a single model to assess the unique contribution of each on the vulnerable brain network, above and beyond the dominating effects of age and sex. These results provide a comprehensive picture of the role played by genetic and modifiable risk factors on these fragile parts of the brain.

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