Take K. Naseri

CREBRF rs373863828 minimally regulates gene expression in subcutaneous adipose tissue of Samoan adults

This study examines the effect of a population-specific variant on gene expression in adipose tissue of Samoan adults, identifying 22 differentially expressed genes.

Structural Variant Imputation in Samoans Using a Population-Specific Reference Panel

The paper imputes structural variants and SNVs in Samoans using a population-specific reference panel, showing improved imputation performance compared to multi-ancestry panels.

Evaluating Polygenic Score Transferability for Lipid Traits in Underrepresented Populations: Evidence from Samoan Cohorts

The paper evaluates polygenic score transferability for lipid traits in Samoan populations using genome-wide imputed genotypes and finds meaningful performance for LDL-C with a genome-wide PRS-CS score.

A genome-wide association study of anti-Müllerian hormone (AMH) levels in Samoan women

This paper identifies eleven genome-wide suggestive loci and seven transcriptome-wide significant genes associated with AMH levels in Samoan women using GWAS and TWAS.

The TyphiNET data visualisation dashboard: Unlocking Salmonella Typhi genomics data to support public health

The paper introduces TyphiNET, a dashboard for exploring Typhi genomics data to support public health decisions on antimicrobial resistance and vaccine implementation.

A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies

The paper introduces MultiSTAAR, a statistical framework for multi-trait rare variant analysis in WGS studies, identifying new lipid trait associations in diverse populations.

The Soifua Manuia reference panel with 2,570 Samoan haplotypes improve genotype imputation quality among Samoans

The paper constructs a Samoan-specific imputation reference panel, showing improved genotype imputation quality compared to existing panels for Samoan populations.

Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed Whole Genome Sequencing Study

The paper identifies 83 rare lncRNA variant sets associated with blood lipid levels using WGS data from the TOPMed program and validates some in UK Biobank data.

Structural variation across 138,134 samples in the TOPMed consortium

The paper presents a comprehensive catalog of structural variants across 138,134 individuals, identifying novel variants and their associations with cardio-metabolic and hematologic traits.

A framework for detecting noncoding rare variant associations of large-scale whole-genome sequencing studies

The paper introduces a framework for detecting noncoding rare variant associations using whole-genome sequencing data, applying it to lipid traits in the TOPMed program.

Spatial-temporal and phylogenetic analyses of epidemiologic data to help understand the modes of transmission of endemic typhoid fever in Samoa

This study analyzes spatial-temporal and phylogenetic data from typhoid fever cases in Samoa to identify transmission patterns and the role of asymptomatic carriers.

A stop-gain variant in BTNL9 is associated with atherogenic lipid profiles

The paper identifies a stop-gain variant in BTNL9 associated with lower HDL-C and higher triglycerides in Polynesian populations.

Whole genome sequence analysis of blood lipid levels in >66,000 individuals

The paper performs whole genome sequence analysis of plasma lipid levels in 66,329 individuals, identifying new lipid-associated alleles, including rare non-coding variants.

Persistence of rare Salmonella Typhi genotypes susceptible to first-line antibiotics in the remote islands of Samoa

This study characterizes the genomic structure and evolutionary history of Salmonella Typhi in Samoa, revealing dominant rare genotypes with low antimicrobial resistance.

Whole Genome Sequence Association Analysis of Fasting Glucose and Fasting Insulin Levels in Diverse Cohorts from the NHLBI TOPMed Program

The paper performs whole genome sequence association analysis of fasting glucose and insulin levels in diverse cohorts, identifying 22 significant variants across 16 gene regions, including rare variants.

Bidirectional Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of intermediate potential

The paper uses bidirectional Mendelian randomization to show LTL lengthening increases CHIP risk, while CHIP accelerates LTL shortening, with modest mediation between CHIP and CAD via LTL.

CREBRF missense variant rs373863828 has both direct and indirect effects on type 2 diabetes and fasting glucose in Polynesians living in Samoa and Aotearoa New Zealand.

The paper examines the direct and indirect effects of rs373863828 on type 2 diabetes and fasting glucose in Polynesians, finding BMI mediates part of its effect.

A population-specific missense variant rs1597000001 in CETP promotes a favorable lipid profile and reduces CETP activity.

The paper identifies a population-specific missense variant in CETP that lowers CETP activity and improves lipid profile, similar to loss-of-function mutations.

The impact of global and local Polynesian genetic ancestry on complex traits in Native Hawaiians

This study investigates the association between Polynesian genetic ancestry and cardiometabolic traits in Native Hawaiians, finding increased risks for diabetes, heart failure, and BMI, but limited replication of a T2D-associated chr6 variant.

Novel genetic determinants of telomere length from a trans-ethnic analysis of 109,122 whole genome sequences in TOPMed

This study identifies 59 sentinel variants and two novel genes associated with telomere length using whole genome sequences from 109,122 trans-ethnic individuals.

Genome-wide association studies in Samoans give insight into the genetic architecture of fasting serum lipid levels.

This study conducts genome-wide association analysis in Samoans to identify genetic variants associated with fasting serum lipid levels, finding both shared and Polynesian-specific associations.

A missense variant in CREBRF is associated with taller stature in Samoans

This study finds that a missense variant in CREBRF is associated with increased height in Samoan adults and children.

Discordant association of the CREBRF rs373863828 minor allele with increased body mass index and protection from type 2 diabetes in Maori and Pacific (Polynesian) people living in Aotearoa New Zealand

The paper replicates an association between the CREBRF rs373863828 minor allele and increased BMI but reduced T2D risk in New Zealand Polynesian adults, similar to findings in Samoan populations.