Aoxing Liu

Sex-related signatures in the plasma proteome not attributable to XX and XY chromosomes and their impact on health and disease

The paper introduces the Proteomic Sex Index (PSI), a continuous measure of plasma proteome alignment with chromosomal sex, showing its association with health and disease traits.

Investigating the Y chromosome in complex disease: Phenome-wide scan across 104,334 Finnish men

Phenome-wide scan of Y-chromosomal variants against 1,426 traits in 104,334 Finnish men finds no significant hits; kin-based validation supports haplogroup I1 increasing coronary heart disease risk.

Prevalence and disease risks for male and female sex chromosome trisomies: a registry-based phenome-wide association study in 1.5 million participants of MVP, FinnGen, and UK Biobank

This study identifies prevalence and disease risks for male and female sex chromosome trisomies using registry data from 1.5 million participants, finding shared phenotypic associations across trisomy subtypes.

A FinnGen pilot clinical recall study for Alzheimer's disease

The paper demonstrates the feasibility of conducting clinical recall studies from the FinnGen biobank to collect customized clinical data from participants with Alzheimer's disease or mild cognitive disorder.

Prevalence, Morbidity, and Mortality of 1,609 Men with Diagnosed and Undiagnosed Sex Chromosome Aneuploidy: Results from the Diverse Million Veteran Program (MVP) Cohort

The paper examines the prevalence, morbidity, and mortality of sex chromosome aneuploidy in men from the MVP cohort, finding a prevalence of 1 in 370 males with higher healthcare utilization and poorer HRQoL but similar life expectancy compared to controls.

Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection

This study identifies genetic drivers and cellular selection signatures of mosaic X chromosome loss in women using large-scale population data and polygenic scores.

FinnGen: Unique genetic insights from combining isolated population and national health register data

Finnish-enriched low-frequency variants, often coding, underlie many GWAS signals across 1,932 register endpoints in 218,792 Finns; a 15-disease meta-analysis with Estonian and UK biobanks adds 30 unreported associations.

Genetic variant in SPDL1 reveals novel mechanism linking pulmonary fibrosis risk and cancer protection

The paper identifies a genetic variant in SPDL1 that links pulmonary fibrosis risk and cancer protection through antagonistic pleiotropy.

Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

The paper investigates the association between age-related mosaic chromosomal alterations and infection risk in 767,891 individuals without blood cancer, finding increased infection susceptibility linked to mCAs.