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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.

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 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 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 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 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 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 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.

Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

research Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

30 citations, June 2016 in “Journal of Human Genetics”

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

research Diagnostic Approach to Low-Renin Hypertension

29 citations, May 2018 in “Clinical Endocrinology”

Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.

research Association Between Interleukin 18 Polymorphisms and Alopecia Areata in Koreans

22 citations, January 2014 in “Journal of Interferon & Cytokine Research”

Certain genetic variations in IL18 may increase the risk of alopecia areata in Koreans.

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 Predicted by Significant Change in Affinity of TATA-Binding Protein for Human Gene Promoters

16 citations, February 2018 in “BMC Genomics”

Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.

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”

No strong genetic link to other skin conditions was found, but some genetic factors may make people more likely to get seborrheic dermatitis.

MC4R Variants rs12970134 and rs17782313 Are Associated with Obese Polycystic Ovary Syndrome Patients in the Western Region of Saudi Arabia

research MC4R Variants rs12970134 and rs17782313 Are Associated with Obese Polycystic Ovary Syndrome Patients in the Western Region of Saudi Arabia

12 citations, August 2019 in “BMC Medical Genetics”

Certain MC4R gene variants are linked to higher BMI in obese women with PCOS but do not cause PCOS.

research Keratin 71 Mutations: From Water Dogs to Woolly Hair

11 citations, September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology”

A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.

research Genetic Variants at 20p11 Confer Risk to Androgenetic Alopecia in the Chinese Han Population

9 citations, August 2013 in “PLOS ONE”

Genetic variants at 20p11 increase baldness risk in Chinese Han people.