Qin Qin Huang
A5061550686- Genetic Associations and Epidemiology
- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Genetic Mapping and Diversity in Plants and Animals
- Liver Disease Diagnosis and Treatment
- SARS-CoV-2 and COVID-19 Research
- Diabetes and associated disorders
- Genetics and Neurodevelopmental Disorders
- Hemoglobinopathies and Related Disorders
- IL-33, ST2, and ILC Pathways
- Gene expression and cancer classification
- Health, Environment, Cognitive Aging
- interferon and immune responses
- Advanced Neuroimaging Techniques and Applications
- Genetic and phenotypic traits in livestock
- Birth, Development, and Health
- Immune Cell Function and Interaction
- COVID-19 Clinical Research Studies
- Genomic variations and chromosomal abnormalities
- Infant Development and Preterm Care
- Hypothalamic control of reproductive hormones
- RNA Research and Splicing
- Regulation of Appetite and Obesity
- Genetic factors in colorectal cancer
- Drug Transport and Resistance Mechanisms
Wellcome Sanger Institute
2020-2024
Queen Mary University of London
2021
Baker Heart and Diabetes Institute
2017-2020
The University of Melbourne
2017-2019
Genome-wide association studies (GWAS) test hundreds of thousands genetic variants across many genomes to find those statistically associated with a specific trait or disease. This methodology has generated myriad robust associations for range traits and diseases, the number is expected grow steadily as GWAS sample sizes increase. results have applications, such gaining insight into phenotype's underlying biology, estimating its heritability, calculating correlations, making clinical risk...
Abstract Most genome-wide association studies (GWAS) of major depression (MD) have been conducted in samples European ancestry. Here we report a multi-ancestry GWAS MD, adding data from 21 cohorts with 88,316 MD cases and 902,757 controls to previously reported data. This analysis used range measures define included African (36% effective sample size), East Asian (26%) South (6%) ancestry Hispanic/Latin American participants (32%). The identified 53 significantly associated novel loci. For...
Investigation of the genetic architecture gene expression traits has aided interpretation disease and trait-associated variants; however, key aspects quantitative trait loci (eQTL) study design analysis remain understudied. We used extensive, empirically driven simulations to explore eQTL performance various strategies. Across multiple testing correction methods, false discoveries genes with eQTLs (eGenes) were substantially inflated when discovery rate (FDR) control was applied all tests...
Individuals with South Asian ancestry have a higher risk of heart disease than other groups but been largely excluded from genetic research. Using data 22,000 British Pakistani and Bangladeshi individuals linked electronic health records the Genes & Health cohort, we conducted genome-wide association studies coronary artery its key factors. power-adjusted transferability ratios, found evidence for majority cardiometabolic loci powered to replicate. The performance polygenic scores was high...
Background Type 2 diabetes (T2D) is highly prevalent in British South Asians, yet they are underrepresented research. Genes & Health (G&H) a large, population study of Pakistanis and Bangladeshis (BPB) comprising genomic routine health data. We assessed the extent to which genetic risk for T2D shared between BPB European populations (EUR). then investigated whether integration polygenic score (PRS) with an existing tool (QDiabetes) could improve prediction incident disease...
Abstract Although rare neurodevelopmental conditions have a large Mendelian component 1 , common genetic variants also contribute to risk 2,3 . However, little is known about how this polygenic distributed among patients with these and their parents nor its interplay variants. It unclear whether background affects directly through alleles transmitted from children, or indirect effects mediated the family environment 4 play role. Here we addressed questions using data 11,573 conditions, 9,128...
Traditional genome-wide scans for positive selection have mainly uncovered selective sweeps associated with monogenic traits. While on quantitative traits is much more common, very few signals been detected because of their polygenic nature. We searched underlying coronary artery disease (CAD) in worldwide populations, using novel approaches to quantify relationships between and CAD genetic risk. identified new candidate adaptive loci that appear directly modified by pressures given...
By sequencing autozygous human populations, we identified a healthy adult woman with lifelong complete knockout of HAO1 (expected ~1 in 30 million outbred people). (glycolate oxidase) silencing is the mechanism lumasiran, an investigational RNA interference therapeutic for primary hyperoxaluria type 1. Her plasma glycolate levels were 12 times, and urinary 6 upper limit normal observed reference individuals (n = 67). Plasma metabolomics lipidomics (1871 biochemicals) revealed 18 markedly...
Abstract Although rare neurodevelopmental conditions have a large Mendelian component, common genetic variants also contribute to risk. However, little is known about how this polygenic risk distributed among patients with these and their parents, its interplay variants, whether parents’ background contributes children’s beyond the direct effect of transmitted child (i.e. via indirect effects potentially mediated through prenatal environment or ‘genetic nurture’). Here, we addressed...
Previous genetic and public health research in the Pakistani population has focused on role of consanguinity increasing recessive disease risk, but little is known about its recent history or effects endogamy. Here, we investigate fine-scale structure, patterns using genotype chip data from 2,200 British Pakistanis. We reveal strong structure driven by biraderi social stratification system. find that all subgroups have had low effective sizes (N
Abstract South Asians develop type 2 diabetes (T2D) early in life and often with normal body mass index (BMI). However, reasons for this are poorly understood because genetic research is largely focused on European ancestry groups. We used recently derived multi-ancestry partitioned polygenic scores (pPSs) to elucidate underlying etiological pathways British Pakistani Bangladeshi individuals T2D ( n = 11,678) gestational mellitus (GDM) 1,965) the Genes & Health study 50,556). Beta cell...
Rare damaging genetic variation accounts for a substantial proportion of the risk rare developmental disorders (DDs), but common variants as well environmental factors, including prematurity, also contribute. Little is known about interplay between prematurity and in influencing phenotypic outcomes DDs, nor how factors may contribute to preterm birth DDs. To address these questions, we leverage data from 21,712 patients with DDs recruited clinical sequencing, 16% whom were born prematurely....
Chronic immune-mediated diseases of adulthood often originate in early childhood. To investigate genetic associations between neonatal immunity and disease, we map expression quantitative trait loci (eQTLs) resting myeloid cells CD4+ T from cord blood samples, as well response to lipopolysaccharide (LPS) or phytohemagglutinin (PHA) stimulation, respectively. Cis-eQTLs are largely specific cell type 31% 52% genes with cis-eQTLs have eQTLs (reQTLs) cells, We identified cis regulatory factors...
Abstract Context The melanocortin 3 receptor (MC3R) has recently emerged as a critical regulator of pubertal timing, linear growth, and the acquisition lean mass in humans mice. In population-based studies, heterozygous carriers deleterious variants MC3R report later onset puberty than noncarriers. However, frequency such patients who present with clinical disorders development is currently unknown. Objective This work aimed to determine whether are more frequently found clinically...
Understanding the genetic basis of routinely-acquired blood tests can provide insights into several aspects human physiology. We report a genome-wide association study 42 quantitative test traits defined using Electronic Healthcare Records (EHRs) ~50,000 British Bangladeshi and Pakistani adults. demonstrate causal variant within PIEZO1 locus which was associated with alterations in red cell glycated haemoglobin. Conditional analysis within-ancestry fine mapping confirmed that this signal is...
Abstract Our understanding of the genetic architecture human cerebral cortex is limited both in terms diversity brain structural phenotypes and anatomical granularity their associations with variants. Here, we conducted genome-wide association meta-analysis 13 diffusion magnetic resonance imaging derived cortical phenotypes, measured globally at 180 bilaterally averaged regions 36,843 individuals from UK Biobank ABCD cohorts. These include thickness, surface area, grey matter volume,...
<ns3:p>Birth cohort studies involve repeated surveys of large numbers individuals from birth and throughout their lives. They collect information useful for a wide range life course research domains, biological samples which can be used to derive data an increasing collection omic technologies. This rich source longitudinal data, when combined with genomic offers the scientific community valuable insights ranging population genetics applications across social sciences. Here we present...
Abstract Background Individuals with South Asian ancestry have higher risk of heart disease than other groups in Western countries; however, most genetic research has focused on European-ancestry (EUR) individuals. It is unknown whether reported loci and polygenic scores (PGSs) for cardiometabolic traits are transferable to Asians, PGSs utility clinical settings. Methods Using data from 22,000 British Pakistani Bangladeshi individuals linked electronic health records the Genes & Health...
Abstract Investigation of the genetic architecture gene expression traits has aided interpretation disease and trait-associated variants, however key aspects quantitative trait (eQTL) study design analysis remain understudied. We used extensive, empirically-driven simulations to explore eQTL performance various strategies. Across multiple testing correction methods, false discoveries genes with eQTLs (eGenes) were substantially inflated when discovery rate (FDR) control was applied all...
Abstract This study assessed the contribution of five genes previously known to be involved in cholestatic liver disease British Bangladeshi and Pakistani people. Five ( ABCB4 , ABCB11 ATP8B1 NR1H4 TJP2 ) were interrogated by exome sequencing data 5236 volunteers. Included non-synonymous or loss function (LoF) variants with a minor allele frequency < 5%. Variants filtered, annotated perform rare variant burden analysis, protein structure, modelling analysis in-silico . Out 314 variants,...
Abstract Chronic immune-mediated diseases of adulthood often originate in early childhood. To investigate genetic associations between neonatal immunity and disease, we collected cord blood samples from a birth cohort mapped expression quantitative trait loci (eQTLs) resting monocytes CD4 + T cells as well response to lipopolysaccharide (LPS) or phytohemagglutinin (PHA) stimulation, respectively. Cis -eQTLs were largely specific cell type eQTLs identified for 31% genes with cis (eGenes) 52%...
Abstract Previous genetic and public health research in the Pakistani population has focused on role of consanguinity increasing recessive disease risk, but little is known about its recent history or effects endogamy. Here, we investigate fine-scale structure, patterns using questionnaire data from >4,000 British individuals, mostly with roots Azad Kashmir Punjab. We reveal strong structure driven by biraderi social stratification system. find that all subgroups have had low effective...
Birth cohort studies involve repeated surveys of large numbers individuals from birth and throughout their lives. They collect information useful for a wide range life course research domains, biological samples which can be used to derive data an increasing collection omic technologies. This rich source longitudinal data, when combined with genomic offers the scientific community valuable insights ranging population genetics applications across social sciences. Here we present...