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Open research questions in Genetic Associations and Epidemiology

1,146 gap statements mined from Genetic Associations and Epidemiology papers in our 7.9M-paper local library, which holds 4,467 papers on the topic — drawn mostly from each paper's own stated research gap, future-work, challenge and limitation notes, and its abstract. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one.

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What the literature leaves open

  • The study faced challenges in terms of the limited representation of Central Asian populations in genomic reference resources. The study had to account for linkage disequilibrium among SNPs. The study had to ensure that confidence intervals were not anti-conservative through non-independence.

    Effect-Allele Frequencies at Cardiometabolic Risk Loci in an Uzbek Cohort from Tashkent: A Central Asian Reference and Priorities for Polygenic Score Validation · 2026 · DOI

  • The study notes that imputation of missing genotypes among relatives is computationally demanding. The paper mentions the challenge of selective attrition and the need to investigate the extent of missingness and the missingness mechanism.

    Estimating direct and indirect genetic effects on emerging variation in depressive symptoms in early adolescence: a trio polygenic score analysis in the MoBa cohort · 2026 · DOI

  • The need to validate the findings using experimental methods such as Sanger sequencing.

    In vitro and in silico analysis of three variants associated with type 2 diabetes · 2026 · DOI

  • Fewer studies have examined genetic variation that may shape the environment. Gene-environment correlations present challenges for accurately estimating genetic and environmental influences on psychiatric and substance use disorders. The study seeks to address this gap by examining the relationship between polygenic risk scores and environmental exposures in youth.

    Psychiatric and substance use disorder polygenic scores are associated with the exposome in youth · 2026 · DOI

  • It also needs to account for potential sample overlap or phenotypic correlation in the genetic correlation analysis.

    Elucidating Shared Genetic Associations Between Birth Weight and Cardiovascular Diseases · 2026 · DOI

  • The need to handle various file formats, including VCF, HapMap, and PLINK. The challenge of estimating haplotype frequencies for unphased diploid genotypes. The requirement for a cross-platform toolkit that can run on Windows, macOS, and Linux.

    LDblockR: a cross-platform R toolkit for multi-format linkage disequilibrium analysis and integrated regional genomics visualization · 2026 · DOI

  • The need to account for the effect of adiposity on the association between FTO variants and type 2 diabetes. The challenge of determining the causal relationship between FTO variants and type 2 diabetes due to the cross-sectional design.

    Genetic and expression evidence supports FTO rs9939609 as a key susceptibility marker for type 2 diabetes and obesity in Thai adults · 2026 · DOI

  • The lack of understanding of the functional relevance of FTO variants in Asian populations. The need to investigate the association of FTO variants with type 2 diabetes and obesity in a Thai cohort. The gap in knowledge regarding the relationship between FTO variants and FTO messenger RNA expression.

    Genetic and expression evidence supports FTO rs9939609 as a key susceptibility marker for type 2 diabetes and obesity in Thai adults · 2026 · DOI

  • The underlying mechanisms of the causal relationship between BMI and kidney function are not well understood. There is a need to dissect the specific mechanisms consistent with disease development.

    Exploring the Causal Relationship Between Body Mass Index and Kidney Function: Tissue-Partitioned Mendelian Randomization · 2026 · DOI

  • There is a lack of understanding of the long-term impacts of metabolic disorders during developmental years on oral health. The study aims to address this gap by investigating the association between childhood obesity and dental caries in adulthood.

    The Impact of Childhood Obesity on Adult Dental Caries: A Mendelian Randomization Study · 2025 · DOI

  • However, it remains unknown whether unaffected individuals with elevated SCZ genetic liability also face increased risk, and what biological pathways may underlie these associations.

    Schizophrenia Genetic Liability Drives Chronic Disease Risk in Unaffected Individuals through Immune and Metabolic Pathways · 2026 · DOI

  • Psychiatric traits/disorders and kidney dysfunction frequently co-occur, yet the causal relationships between them remain unclear.

    Kidney function and five types of psychiatric traits/disorders: a bidirectional mendelian randomisation study · 2026 · DOI

  • Observational studies suggest associations between hypnotic use and increased infection risk, but causality remains unclear.

    Association of Hypnotic Drug Use and Infectious Disease: Observational Associations and Target-Specific Genetic Evidence · 2026 · DOI

  • Although immunerelated regulatory mechanisms are increasingly implicated, the role of immune cell-specific chromatin accessibility variants remains poorly understood.

    Mapping Cell-Type-Specific Regulatory Variants in Vascular Dementia by Integrating Single-Cell Chromatin Accessibility and Gene Expression · 2026 · DOI

  • The nomination of GSDME generates the hypothesis of a B cell pyroptosis-related mechanism; this is an association-level, hypothesis-generating result rather than evidence of a causal or mediating role, and remains to be validated.

    Mapping Cell-Type-Specific Regulatory Variants in Vascular Dementia by Integrating Single-Cell Chromatin Accessibility and Gene Expression · 2026 · DOI

  • Deep learning sequence to function models can predict the molecular effects of genetic variants, but their predictions are limited to the cell types and assays they are trained on.

    Comprehensive molecular impact mapping of common and rare variants at GWAS loci · 2026 · DOI

  • The study only included participants who had valid genetic data and were genetically similar to the EUR, AFR, or AMR reference panels. The study excluded batch number 461 (n = 81) due to reported problems. The study removed participants with missing data for the exposome factors, log income-to-needs covariate, sex, or age. The study used a stratified probability sampling design which may introduce biases.

    Psychiatric and substance use disorder polygenic scores are associated with the exposome in youth · 2026 · DOI

  • The shape of the relationship varies widely across traits, with profiles exhibiting features found under each of the theoretical mechanisms we explored.

    Understanding genetic and environmental complexity in phenotypic resemblance across relatedness in population-scale data · 2026 · DOI

  • Future evaluation of PRS derived from European or South Asian cohorts in Central Asian settings, - Independent local validation of any application, - Further studies to confirm the transferability of PRS across…

    Effect-Allele Frequencies at Cardiometabolic Risk Loci in an Uzbek Cohort from Tashkent: A Central Asian Reference and Priorities for Polygenic Score Validation · 2026 · DOI

  • Investigating mechanisms with effects specific to the developmental period of early adolescence, - Examining the interaction between genetic liabilities and environmental…

    Estimating direct and indirect genetic effects on emerging variation in depressive symptoms in early adolescence: a trio polygenic score analysis in the MoBa cohort · 2026 · DOI

  • The study was conducted in a specific population, - The sample size was limited to 583 and 593 subjects, - The study only considered the FTO rs1421085…

    Obesity-related RNA m6A demethylase gene FTO rs1421085 is associated with neuroticism in a longitudinal birth cohort study · 2026 · DOI

  • Further studies are needed to validate the findings and to investigate the functional effects of the identified variants, - Investigation of the TF-binding-site variant upstream of the PPP2R3A in larger cohorts, - Elucidation of the mechanisms by which the identified variants contribute to T2D…

    In vitro and in silico analysis of three variants associated with type 2 diabetes · 2026 · DOI

  • The determinants of birth weight involve a complex interplay between parental genetic background and intrauterine adverse factors - Observational studies may not be able to fully explore the underlying mechanism of cardiovascular disease risk - The study used unadjusted summary statistics from genome-wide association studies - The analysis was limited to the available data and may not be generalizable to other…

    Elucidating Shared Genetic Associations Between Birth Weight and Cardiovascular Diseases · 2026 · DOI

  • The exact mechanism of T2DM pathogenesis is still unknown, - The study had a relatively small sample size of 235 participants, - The study only considered two genetic polymorphisms…

    Association of SDF‐1β (rs1801157) and TCF7L2 (rs12255372) Gene Polymorphisms With Type 2 Diabetes Mellitus in the Bangladeshi Population: A Case‐Control Study · 2026 · DOI

  • Investigating the role of other genetic polymorphisms in T2DM development, - Examining the interaction between genetic and environmental factors in T2DM pathogenesis, - Developing more effective prevention and treatment strategies…

    Association of SDF‐1β (rs1801157) and TCF7L2 (rs12255372) Gene Polymorphisms With Type 2 Diabetes Mellitus in the Bangladeshi Population: A Case‐Control Study · 2026 · DOI

Most-cited papers in Genetic Associations and Epidemiology

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Open questions raised by papers listed on this page include: (1) The lack of understanding of the functional relevance of FTO variants in Asian populations (“Genetic and expression evidence supports FTO rs9939609 as a key susceptibility…”, 2026); (2) The underlying mechanisms of the causal relationship between BMI and kidney function are not well understood (“Exploring the Causal Relationship Between Body Mass Index and Kidney Function:…”, 2026); (3) It remains unknown whether unaffected individuals with elevated SCZ genetic liability also face increased risk, and what biological pathways may underlie these associations (“Schizophrenia Genetic Liability Drives Chronic Disease Risk in Unaffected…”, 2026); (4) Psychiatric traits/disorders and kidney dysfunction frequently co-occur, yet the causal relationships between them remain unclear (“Kidney function and five types of psychiatric traits/disorders: a bidirectional…”, 2026); (5) Observational studies suggest associations between hypnotic use and increased infection risk, but causality remains unclear (“Association of Hypnotic Drug Use and Infectious Disease: Observational…”, 2026). 1,146 gap statements have been mined from Genetic Associations and Epidemiology papers in our 7.9M-paper local library, which holds 4,467 papers on the topic; the gaps come from whichever of those papers state one. They are mostly the research gaps the authors state and the papers' abstracts, plus future-work, limitations and challenges passages. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one, so you can read the original claim in context.

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