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Glossary Candidate Genes

specific genes believed to influence a particular trait or disease

Candidate genes are specific genes that researchers believe may be associated with a particular trait or disease, based on their known biological functions or previous studies. For example, in the context of alopecia (hair loss), scientists might identify candidate genes that are involved in hair growth or immune system regulation, as these processes are relevant to the condition. Identifying and studying these genes can help in understanding the underlying mechanisms of the disease and potentially lead to targeted treatments.

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research A conditional multi-trait sequence GWAS discovers pleiotropic candidate genes and variants for sheep wool, skin wrinkle and breech cover traits

11 citations , July 2021 in “Genetics selection evolution”

This study used whole-genome sequence data to identify numerous putative causal variants and genes affecting key wool traits and skin wrinkle in Merino sheep, highlighting their polygenic and pleiotropic nature.

research sc-eQTL unveil Immunogenetic Architecture of Polycystic Ovary Syndrome

October 2025

This study identified 19 genetic risk loci and 16 potential causal genes related to PCOS, highlighting the role of immune cell-specific mechanisms in its pathogenesis.

research MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes

2 citations , April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)”

This article discusses the MendelVar webserver, which integrates Mendelian disease data with GWAS findings to prioritize candidate genes for complex traits and reports no new experimental results.

research sc-eQTL unveil immunogenetic architecture of polycystic ovary syndrome

January 2026 in “Scientific Reports”

In this study, researchers identified 19 genetic risk loci and highlighted 16 candidate causal genes, including immune-related ones, associated with polycystic ovary syndrome, emphasizing the role of specific immune cells like T cells and NK cells in its pathogenesis.

Integrated Single-Cell Chromatin and Transcriptomic Analyses of Human Scalp Reveal Etiological Insights Into Genetic Risk for Hair and Skin Disease

research Integrated single-cell chromatin and transcriptomic analyses of human scalp reveal etiological insights into genetic risk for hair and skin disease

September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)”

This study identifies gene-regulatory networks related to genetic variants in skin and hair diseases, suggesting that dermal papilla cells are crucial in androgenetic alopecia.

research Large-Scale Plasma Proteomics and Genetic Integration Uncover Novel Biological Pathways in Male Pattern Baldness

February 2026 in “International Journal of Molecular Sciences”

In this study, researchers identified 47 proteins associated with male pattern baldness severity and prioritized five candidate genes, including druggable CD38, suggesting new non-hormonal targets for therapeutic development.

research A mechanism-informed deep neural network enables prioritization of regulators that drive cell state transitions

13 citations , February 2025 in “Nature Communications”

In this study, a deep neural network model called regX was developed to prioritize driver regulators for cell state transitions by incorporating gene-level regulation and interactions, showing potential therapeutic targets in type 2 diabetes and hair follicle development when applied to single-cell multi-omics data.

research LB1053 Dysregulation of antioxidant enzyme PRDX5 in alopecia areata

1 citations , August 2019 in “Journal of Investigative Dermatology”

PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.

Differential Expression Between Human Dermal Papilla Cells from Balding and Non-Balding Scalps Reveals New Candidate Genes for Androgenetic Alopecia

research Differential Expression between Human Dermal Papilla Cells from Balding and Non-Balding Scalps Reveals New Candidate Genes for Androgenetic Alopecia

46 citations , April 2016 in “Journal of Investigative Dermatology”

This study suggests that down-regulation of vasculature-related genes in dermal papilla cells from balding scalps might contribute to the development of androgenetic alopecia.

Candidate SNP Markers of Reproductive Potential Predicted by Significant Change in Affinity of TATA-Binding Protein for Human Gene Promoters

research Candidate SNP markers of reproductive potential are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters

16 citations , February 2018 in “BMC Genomics”

This paper reviews genome-based personalized medicine developments using Web services for analyzing SNPs in reproductive potential but reports no new clinical findings.

research The Genetics of Seborrheic Dermatitis: A Candidate Gene Approach and Pilot Genome-Wide Association Study

15 citations , December 2017 in “Journal of Investigative Dermatology”

This study identified two genome-wide significant genetic associations with seborrheic dermatitis, suggesting a potential genetic susceptibility contributing to the disease's pathogenesis.

research Candidate Gene Analysis Of Alopecia Areata In Jordanian Population Of Arab Descent: A Case–Control Study

6 citations , November 2019 in “The application of clinical genetics”

This study identified a significant genetic association between the TNFα gene and alopecia areata susceptibility in the Jordanian Arab population.

research Whole genome sequencing analysis of alpaca suggests TRPV3 as a candidate gene for the suri phenotype

February 2024 in “BMC genomics”

This study identified a gene variant in the TRPV3 gene that may explain the suri alpaca phenotype, characterized by longer and less crimped fleece, suggesting this variant's involvement in the development of these hair characteristics compared to the huacaya phenotype.

research Genome-wide association study for cashmere traits in Inner Mongolia cashmere goat population reveals new candidate genes and haplotypes

13 citations , July 2024 in “BMC Genomics”

In this study, researchers found that single SNPs have a small genetic effect on phenotypes in Inner Mongolia cashmere goats, and constructing haplotypes from associated SNPs may uncover complex variations in cashmere traits, aiding genomics and breeding efforts.

research Ancient Genomes Reveal the Evolutionary History and Origin of Cashmere-Producing Goats in China

27 citations , April 2020 in “Molecular Biology and Evolution”

This study found that ancient and modern Chinese goats share close genetic ties, originating from the Fertile Crescent, with genetic divergence influenced by China's climatic divisions.

research A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12∼12.3 in a Chinese family

7 citations , May 2010 in “Journal of Cutaneous Pathology”

This study identified a novel locus for hereditary hypotrichosis simplex on chromosome 13q12.12~12.3 in a four-generation Chinese family.

Exploring the Causal Relationship and Molecular Mechanisms Between Fasting Insulin and Androgenetic Alopecia: A Mendelian Randomization Study with Bioinformatics Analysis

research Exploring the Causal Relationship and Molecular Mechanisms Between Fasting Insulin and Androgenetic Alopecia: A Mendelian Randomization Study with Bioinformatics Analysis

February 2025 in “Clinical Cosmetic and Investigational Dermatology”

This study used Mendelian randomization analysis to find a significant causal relationship between high fasting insulin levels and androgenetic alopecia, while identifying potential core genes and metabolic pathways that could mediate this link.

Common Variants in the Sex Hormone-Binding Globulin Gene Influence SHBG Levels in Women with Polycystic Ovary Syndrome

research Common Variants in the Sex Hormone-Binding Globulin (SHBG) Gene Influence SHBG Levels in Women with Polycystic Ovary Syndrome

24 citations , November 2015 in “Annals of Nutrition and Metabolism”

This study found that specific SHBG gene variants and haplotypes are associated with polycystic ovary syndrome, suggesting that SHBG may be a candidate gene for the condition.

research Prioritizing susceptibility genes for the prognosis of male-pattern baldness with transcriptome-wide association study

April 2024 in “Human genomics”

This study identified MPB susceptibility genes and potential drug candidates that may help uncover molecular mechanisms and address male-pattern baldness.

Whole Genome Scan and Selection Signatures for Climate Adaptation in Yanbian Cattle

research Whole Genome Scan and Selection Signatures for Climate Adaption in Yanbian Cattle

26 citations , February 2020 in “Frontiers in genetics”

This study identified three candidate genes (CORT, FGF5, and CD36) associated with cold climate adaptation in Yanbian cattle through genome resequencing and comparison with African tropical cattle.

Exploring the Causal Relationship Between Plasma Proteins and Obstructive Sleep Apnea: A Study Using Genome-Wide Mendelian Randomization, Single-Cell RNA Sequencing Analysis, and Network Pharmacology

research Exploring the Causal Relationship Between Plasma Proteins and Obstructive Sleep Apnea: A Study Using Genome-Wide Mendelian Randomization, Single-Cell RNA Sequencing Analysis, and Network Pharmacology

July 2025

This study found that 62 plasma proteins are significantly associated with the risk of obstructive sleep apnea, offering potential targets for new therapeutic strategies.

research Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia

195 citations , June 2005 in “American Journal of Human Genetics”

Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.

research Mendelian randomization study highlights hypothyroidism as a causal determinant of alopecia areata

January 2024 in “Frontiers in endocrinology”

This study found that genetic variants linked to hypothyroidism significantly increased the risk of developing alopecia areata, suggesting a causative connection between the two conditions.

research Identifying causal genes in alopecia areata using integrative analysis of differential expression and Mendelian randomization

July 2024

This study identified four genes related to alopecia areata: GIMAP6 and ALOX15 as risk factors, and GALNT6 and HEG1 as protective factors, noting significant validation differences in GALNT6 and HEG1.

research Genome-Wide Association Studies for Immunoglobulin Concentrations in Colostrum and Serum in Chinese Holstein

September 2020 in “Research Square (Research Square)”

This study identified 21 candidate genes related to immunoglobulin concentrations in colostrum and serum of dairy cattle, which may aid in genetic improvement for disease resistance.

research Utilizing functional genomics approaches to characterize risk genes in alopecia areata

January 2020 in “Columbia Academic Commons (Columbia University)”

This study utilized targeted genomic sequencing and whole exome sequencing to identify novel common and rare genetic variants in Alopecia Areata, revealing potential mechanisms contributing to disease susceptibility.

Identifying Molecular Targets for Reverse Aging Using Integrated Network Analysis of Transcriptomic and Epigenomic Changes During Aging

research Identifying molecular targets for reverse aging using integrated network analysis of transcriptomic and epigenomic changes during aging

12 citations , June 2021 in “Scientific Reports”

This study identified aging-related epigenetic and transcriptomic biomarkers and suggested that curcumin might target and inhibit the JUN gene, implicating potential therapeutic strategies against aging.

research Genetics of Polycystic Ovary Syndrome

1 citations , March 2016

This review discusses genetic and epigenetic studies of PCOS, highlighting Genome-Wide Association Studies that found genetic variants related to gonadotrophin secretion influencing PCOS susceptibility, but it reports no new findings.

research Rhamnose-mediated modulation of hair follicle growth: insights from chemical genomics

January 2025 in “bioRxiv (Cold Spring Harbor Laboratory)”

This study found that rhamnose can restore hair-inducing gene expression in dermal papilla cells and accelerate hair follicle regeneration by promoting the hair cycle into the anagen phase, suggesting its potential therapeutic application for alopecia treatment.

Resequencing and Signatures of Selective Scans Point to Candidate Genetic Variants for Hair Length Traits in Long-Haired and Normal-Haired Tianzhu White Yak

research Resequencing and Signatures of Selective Scans Point to Candidate Genetic Variants for Hair Length Traits in Long-Haired and Normal-Haired Tianzhu White Yak

7 citations , March 2022 in “Frontiers in Genetics”

This study identified genetic loci and pathways associated with long hair growth in the Tianzhu white yak, providing new insights into the genetic mechanisms of this trait.