Frontiers in Genetics | Applied Genetic Epidemiology

Original Research

Accepted on 08 Jul 2025

Prevalence and penetrance of pathogenic and likely pathogenic LDLR and APOB gene variants linked to familial hypercholesterolemia and an increased risk of ischemic heart disease

in Applied Genetic Epidemiology

Irina Dzhumaniiazova
Aleksei N. Meshkov
Veronika Erema
Marat V. Ezhov
Elena A. Zelenova
Ulyana V. Chubykina
Daria Kashtanova
Michail V. Ivanov
Lorena R. Matkava
Olga I. Blinova

Frontiers in Genetics

doi 10.3389/fgene.2025.1589014

Original Research

Accepted on 02 Jul 2025

Evaluation of Diverse Polygenic Risk Score Models for Lung Cancer in a Small-Scale Chinese Cohort

in Applied Genetic Epidemiology

Min Gao
Qiwen Zheng
Yue Jiang
Xiao Chang
Xin Zheng

Frontiers in Genetics

doi 10.3389/fgene.2025.1646997

145 views

Original Research

Published on 02 Jul 2025

Clinical validation of an integrated risk assessment test incorporating genomic and non-genomic data for sporadic breast cancer in Colombia

in Applied Genetic Epidemiology

Harvy Mauricio Velasco Parra
Danny Styvens Cardona
Cesar Augusto Buitrago
Melisa Naranjo Vanegas
Sebastián Gutiérrez Hincapié
Carolina Jaramillo Jaramillo
Alicia Maria Cock-Rada
Carolina Benavides Duque
Clara Patricia Piedrahita
Catalina Bustamante

Frontiers in Genetics

doi 10.3389/fgene.2025.1556907

796 views

Original Research

Published on 25 Jun 2025

Association of the interaction between occupational hazard factors and IL-1β gene polymorphism with cognitive function in electrolytic aluminum workers

in Applied Genetic Epidemiology

Youxing Li
Yaqin Pang
Dongshun Chen
Feiyu Lu
Hongyan Tian
Fengni Qin
Kuntao Wei
Ahmad Razali Bin Ishak
Mohd Shukri Bin Mohd Aris
Guangzi Qi

Frontiers in Genetics

doi 10.3389/fgene.2025.1591908

466 views

Original Research

Published on 24 Jun 2025

Shared genetic loci connect cardiovascular disease with blood pressure and lipid traits in East Asian populations

in Applied Genetic Epidemiology

Peng Zhong
Chumeng Zhang
Qinfeng Wu
Xiao Chang

Frontiers in Genetics

doi 10.3389/fgene.2025.1635378

677 views

Brief Research Report

Published on 18 Jun 2025

Data simulation to optimize frameworks for genome-wide association studies in diverse populations

in Applied Genetic Epidemiology

Jacquiline W. Mugo
Nicola Mulder
Emile R. Chimusa

Frontiers in Genetics

doi 10.3389/fgene.2025.1559496

682 views

Original Research

Published on 12 Jun 2025

Highly multiplexed molecular inversion probe panel in Plasmodium falciparum targeting common SNPs approximates whole-genome sequencing assessments for selection and relatedness

in Applied Genetic Epidemiology

Karamoko Niaré
Rebecca Crudale
Abebe A. Fola
Neeva Wernsman Young
Victor Asua
Melissa D. Conrad
Pierre Gashema
Anita Ghansah
Stan Hangi
Deus S. Ishengoma

Frontiers in Genetics

doi 10.3389/fgene.2025.1526049

1,031 views

Original Research

Published on 26 May 2025

Genetic association of ACE2 rs2285666 (C>T) and rs2106809 (A>G) and susceptibility to SARS-CoV-2 infection among the Ghanaian population

in Applied Genetic Epidemiology

Alexander Owusu Boakye
Christian Obirikorang
Anthony Afum-Adjei Awuah
Evans Asamoah Adu
Doris Winter
Eric Ebenezer Boham
Hakim Alani
Sylvester Kofi Newton
Nana Safi Toure Almoustapha
James Deke

Frontiers in Genetics

doi 10.3389/fgene.2025.1555515

1,357 views

Original Research

Published on 23 May 2025

The role of E2F1 in promoting EIF4EBP1 transcription in cryptorchid mice: association with autophagy in germ cells

in Applied Genetic Epidemiology

Jianguo Zhang
Yanhui Liu
Hailong Zhang
Lin Yang
Danjing Sun
Lili Xiao
Xiaoyun Wang
Xiangming Wu

Frontiers in Genetics

doi 10.3389/fgene.2025.1536672

863 views

Original Research

Published on 23 May 2025

Global, regional, and national burden of glucose-6-phosphate dehydrogenase (G6PD) deficiency from 1990 to 2021: a systematic analysis of the global burden of disease study 2021

in Applied Genetic Epidemiology

Zhengyu Yu
Qiang Xiong
Zhongwang Wang
Linfeng Li
Ting Niu

Frontiers in Genetics

doi 10.3389/fgene.2025.1593728

1,862 views

Original Research

Published on 15 May 2025

Integrated transcriptomic analysis of COVID-19 stages and recovery: insights into key gene signatures, immune features, and diagnostic biomarkers through machine learning

in Applied Genetic Epidemiology

Zhiyuan Gong
He An

Frontiers in Genetics

doi 10.3389/fgene.2025.1599867

1,207 views

Original Research

Published on 14 May 2025

EGFR polymorphisms drive lung cancer risk and survival disparities: a genotype-expression-outcome cohort study

in Applied Genetic Epidemiology

Chao Zuo
Ziqiang Wang
Yi Liu
Jing Cheng
Dongli Yang
Yu Wang
Yongchao Qiao

Frontiers in Genetics

doi 10.3389/fgene.2025.1591539

941 views

Original Research

Published on 09 May 2025

Nonmetastatic cell 1 gene polymorphisms are associated with the clinical progression and prognoses of patients with colorectal cancer

in Applied Genetic Epidemiology

Yabin Liu
Tianliang Bai
Zhenxi Zhang
Yanjun Xu
Dexian Kong

Frontiers in Genetics

doi 10.3389/fgene.2025.1485855

643 views

Original Research

Published on 01 May 2025

Development and validation of a polygenic risk score for height in a Greek cohort: Association with blood pressure measurements

in Applied Genetic Epidemiology

Ioanna Panagiota Kalafati
Margaritis Tsifintaris
Maria Dimitriou
Effimia Grigoriou
Panagiotis Moulos
George V. Dedoussis

Frontiers in Genetics

doi 10.3389/fgene.2025.1538975

991 views

Original Research

Published on 15 Apr 2025

Multi-trait GWAS identifies pleiotropic loci associated with colorectal cancer in East Asian populations

in Applied Genetic Epidemiology

Xiqi Chen
Yong Zhu
Peng Zhong
Guangdong Xie

Frontiers in Genetics

doi 10.3389/fgene.2025.1590652

1,341 views

Data Report

Published on 26 Mar 2025

Adaptation of key bacterial vaginosis-associated bacteria to a medium simulating genital tract secretions: a transcriptomic analysis

in Applied Genetic Epidemiology

Lúcia G. V. Sousa
Angela França
Vânia Pinheiro
Christina A. Muzny
Nuno Cerca

Frontiers in Genetics

doi 10.3389/fgene.2025.1552307

1,606 views