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GlossarySingle Nucleotide Polymorphisms

variations in a single DNA building block among individuals

Single Nucleotide Polymorphisms (SNPs) are variations at a single position in a DNA sequence among individuals. These genetic differences can influence how people develop diseases, respond to pathogens, chemicals, drugs, and other substances, making them crucial for personalized medicine and genetic research.

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research Association of Single Nucleotide Polymorphisms in the RAB5B Gene 3′UTR Region with Polycystic Ovary Syndrome in Chinese Han Women

11 citations, April 2019 in “Bioscience Reports”

Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.

research Association of Single Nucleotide Polymorphisms in the CYP19A1 Gene with Female Pattern Hair Loss in a Chinese Population

7 citations, January 2015 in “Dermatology”

Two gene variations, rs6493497 and rs7176005, may be linked to female hair loss in Chinese people.

Single Nucleotide Polymorphisms Associated with Elevated Alanine Aminotransferase in Patients Receiving Asunaprevir Plus Daclatasvir Combination Therapy for Chronic Hepatitis C

research Single Nucleotide Polymorphisms Associated with Elevated Alanine Aminotransferase in Patients Receiving Asunaprevir Plus Daclatasvir Combination Therapy for Chronic Hepatitis C

2 citations, July 2019 in “PLOS ONE”

Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.

research The Association of Gene Expression and Single Nucleotide Polymorphism (rs6152 SNP) in Androgen Receptor Gene with Recurrent Spontaneous Abortion in Iraqi Women

March 2021 in “Medico-Legal Update”

The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.

Genetic Single Nucleotide Polymorphisms of IL-16 and Its Concentration in Patients Infected with Alopecia Areata in Diyala Province, Iraq

research Genetic Single Nucleotide Polymorphisms of IL-16 and Its Concentration in Patients Infected with Alopecia Areata in Diyala Province, Iraq

January 2023 in “International Journal of Zoological Investigations”

Certain genetic variations in IL-16 may increase the risk of alopecia areata.

research Association of Eight Single Nucleotide Polymorphisms of Chromosomes 20 and X with Androgenetic Alopecia Among Ethnic Han Chinese from Yunnan

June 2016 in “PubMed”

Certain genetic markers on chromosome 20 are linked to hair loss in the Han Chinese from Yunnan.

research The Impact of Certain Genetic Variants (Single Nucleotide Polymorphisms) on Incidence and Severity of COVID-19

7 citations, January 2021 in “The journal of gene medicine”

Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.

research Determining the Relationship Among Cattle Genotype, Hair Coat Score, and Productivity Through the Investigation of Single Nucleotide Polymorphisms Within Prolactin, Dopamine Receptor D2, and Melatonin Receptor 1A

January 2019

Intra-Host SARS-CoV-2 Single-Nucleotide Variants Emerged During the Early Stage of COVID-19 Pandemic Forecast Population Fixing Mutations

research Intra-Host SARS-CoV-2 Single-Nucleotide Variants Emerged During the Early Stage of COVID-19 Pandemic Forecast Population Fixing Mutations

3 citations, January 2022 in “Journal of Infection”

Some early COVID-19 mutations in patients predicted future common virus mutations.

research Polymorphisms of FST Gene and Their Association with Wool Quality Traits in Chinese Merino Sheep

25 citations, April 2017 in “PloS one”

Certain genetic variations in the FST gene are linked to better wool quality in Chinese Merino sheep.

research Androgen Receptor Mutations and Polymorphisms in African American Prostate Cancer

23 citations, January 2014 in “International Journal of Biological Sciences”

African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.

research Association Between Polymorphisms of OCT1 and Metabolic Response to Metformin in Women with Polycystic Ovary Syndrome

11 citations, April 2019 in “International Journal of Molecular Sciences”

Certain genetic variations in OCT1 may improve insulin sensitivity with metformin in women with PCOS.

research Association Between IL16 Gene Polymorphisms and Susceptibility to Alopecia Areata in the Korean Population

11 citations, December 2013 in “International Journal of Dermatology”

IL16 gene variations may affect the risk of alopecia areata in Koreans.

research Androgen Receptor Polymorphism-Dependent Variation in Prostate-Specific Antigen Concentrations of European Men

9 citations, September 2014 in “Cancer Epidemiology, Biomarkers & Prevention”

Certain genetic variants in the androgen receptor are linked to higher PSA levels, potentially affecting prostate cancer screening outcomes.

research Polymorphisms in the Promoter Regions of the CXCL1 and CXCL2 Genes Contribute to Increased Risk of Alopecia Areata in the Korean Population

8 citations, January 2015 in “Genetics and Molecular Research”

Certain gene variations increase the risk of alopecia areata in Koreans.

research Polymorphism in the A2M Gene Associated with High-Quality Milk in Murrah Buffaloes (Bubalus Bubalis)

5 citations, January 2016 in “Genetics and molecular research”

Certain genetic variations in the A2M gene are linked to better milk quality in Murrah buffaloes.

research Association Between EGF and EGFR Gene Polymorphisms and Susceptibility to Alopecia Areata in the Korean Population

2 citations, January 2019 in “Annals of Dermatology”

Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.

research Gene Polymorphisms and Serum Levels of BDNF and CRH in Vitiligo Patients

July 2022 in “PLOS ONE”

Certain gene variations and different levels of BDNF and CRH hormones are linked to vitiligo.

research Polymorphisms in Genes Involved in Steroidogenesis in the Development of Severe Acne

September 2021 in “International Journal of Biomedicine”

Certain gene variations are linked to a higher risk of severe acne, suggesting a genetic influence on the condition.

Association Between Epidermal Growth Factor and Epidermal Growth Factor Receptor Gene Polymorphisms and Susceptibility to Alopecia Areata in Korean Population

research Association Between Epidermal Growth Factor and Epidermal Growth Factor Receptor Gene Polymorphisms and Susceptibility to Alopecia Areata in Korean Population

February 2013 in “Journal of the American Academy of Dermatology”

Certain gene variations might increase the risk of a hair loss condition in Koreans.

research Pilot Study: Genetic Distribution of AR, FGF5, SULT1A1, and CYP3A5 Polymorphisms in Male Mexican Population with Androgenetic Alopecia

January 2022 in “PubMed”

Certain genetic variations are linked to hair loss in Mexican men.

research Genetic Association of Complement Component 2 Polymorphism with Systemic Lupus Erythematosus

12 citations, July 2015 in “Tissue Antigens”

The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.

research A PAX1 Enhancer Locus Is Associated With Susceptibility to Idiopathic Scoliosis in Females

103 citations, March 2015 in “Nature Communications”

A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.

research Enhanced Ectodysplasin-A Receptor Signaling Alters Multiple Fiber Characteristics to Produce the East Asian Hair Form

98 citations, June 2008 in “Human mutation”

A genetic change in the EDAR gene causes the unique hair traits found in East Asians.

A Replication Study Confirmed the EDAR Gene to Be a Major Contributor to Population Differentiation Regarding Head Hair Thickness in Asia

research A Replication Study Confirmed the EDAR Gene to Be a Major Contributor to Population Differentiation Regarding Head Hair Thickness in Asia

89 citations, August 2008 in “Human genetics”

The EDAR gene greatly affects hair thickness in Asian populations.

research The Polycystic Ovary Syndrome Evolutionary Paradox: A Genome-Wide Association Studies-Based, In Silico, Evolutionary Explanation

47 citations, August 2014 in “The Journal of Clinical Endocrinology and Metabolism”

The research suggests that the global distribution of PCOS is likely due to historical human migration and that genes affecting PCOS may have different impacts on males and females.

research FGFR2 Is Associated With Hair Thickness In Asian Populations

45 citations, July 2009 in “Journal of human genetics”

A gene variation is linked to hair thickness in Asians.

research Identification of the Ovine Keratin-Associated Protein 22-1 (KAP22-1) Gene and Its Effect on Wool Traits

42 citations, January 2017 in “Genes”

The gene KAP22-1 affects wool yield and fiber shape in sheep.

research Prediction of Male-Pattern Baldness from Genotypes

37 citations, October 2015 in “European Journal of Human Genetics”

Genetic data can predict male-pattern baldness with moderate accuracy, especially for early-onset cases in some European men.

research Evaluation of the Predictive Capacity of DNA Variants Associated with Straight Hair in Europeans

36 citations, September 2015 in “Forensic Science International: Genetics”

Certain DNA variants can predict straight hair in Europeans but are not highly specific.