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GlossarySingle Nucleotide Polymorphisms (SNP)

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 Characterization of X-Linked SNP Genotypic Variation in Globally Distributed Human Populations

31 citations, January 2010 in “GenomeBiology.com (London. Print)”

The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.

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 Association of HSPA1B SNP rs6457452 With Alopecia Areata in the Korean Population

12 citations, December 2013 in “Immunological Investigations”

The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.

Androgenetic Alopecia and Polymorphism of the Androgen Receptor Gene (SNP rs6152) in Patients with Benign Prostate Hyperplasia or Prostate Cancer

research Androgenetic Alopecia and Polymorphism of the Androgen Receptor Gene (SNP rs6152) in Patients with Benign Prostate Hyperplasia or Prostate Cancer

11 citations, January 2015 in “Journal of The European Academy of Dermatology and Venereology”

Hair loss gene linked to prostate issues.

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

7 citations, January 2015 in “Case reports in genetics”

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

research SNP Variation in Male Pattern Hair Loss in Russians with Different Dihydrotestosterone Levels

3 citations, December 2018 in “Meta Gene”

Certain gene variations increase male hair loss risk, influenced by hormone levels.

research Regulation of Feather Follicle Development and Msx2 Gene SNP Degradation in Hungarian White Goose

1 citations, December 2022 in “BMC Genomics”

The Msx2 gene affects feather development in Hungarian white geese and a specific gene variation could indicate feather quality.

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.

research Whole-Genome SNP Genotyping Mapped a Novel Locus for Hereditary Hypotrichosis on Chromosome 2q31.1–q32.2

May 2015 in “Journal of Dermatological Science”

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

research Utilizing SNP Association Analysis as a Prospective Approach for Personalizing Androgenetic Alopecia Treatment

March 2024 in “Dermatology and therapy (Internet)”

Genetic factors could lead to personalized treatments for hair loss.

Androgen Receptor Gene Polymorphism (SNP RS6152) – Its Relationship to Androgen-Sensitive Genes Expression in Benign Prostatic Hyperplasia, Carcinoma of the Prostate, and Androgenetic Alopecia

research Androgen Receptor Gene Polymorphism (SNP RS6152) – Its Relationship to Androgen-Sensitive Genes Expression in Benign Prostatic Hyperplasia, Carcinoma of the Prostate, and Androgenetic Alopecia

March 2011 in “European Urology Supplements”

Gene variation affects prostate issues and hair loss.

research Five SNP Variability in Male Pattern Hair Loss Patients and Healthy Individuals from Russia

December 2018

research Sequence And Structure Based Assessment Of Non-Synonymous SNPs In Hypertrichosis Universalis

3 citations, April 2012 in “Bioinformation”

Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.

research Genome-Wide Target Enrichment-Aided Chip Design: A 66K SNP Chip for Cashmere Goat

13 citations, August 2017 in “Scientific reports”

Researchers developed a cost-effective 66 K SNP chip for cashmere goats that is accurate and useful for genetic studies.

research Compilation of a Comprehensive Gene Panel for Systematic Assessment of Genes That Govern an Individual’s Drug Responses

13 citations, October 2010 in “Pharmacogenomics”

Researchers found that most genes affecting drug responses are not fully covered by commercial SNP chips, suggesting the need for more comprehensive tools to optimize drug selection based on genetics.

research Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans

234 citations, November 2009 in “American journal of human genetics”

Common variants in the Trichohyalin gene are linked to straight hair in Europeans.

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 Dissection of Genetic Variation and Evidence for Pleiotropy in Male Pattern Baldness

58 citations, December 2018 in “Nature Communications”

Male pattern baldness is mostly inherited, involves many genes, and is linked to other traits like early puberty and strong bones.

research GWAS for Male-Pattern Baldness Identifies 71 Susceptibility Loci Explaining 38% of the Risk

57 citations, November 2017 in “Nature Communications”

Researchers found 71 genetic regions linked to male pattern baldness, which account for 38% of its genetic risk.

research Susceptibility Variants on Chromosome 7p21.1 Suggest HDAC9 as a New Candidate Gene for Male-Pattern Baldness

51 citations, November 2011 in “British Journal of Dermatology”

A gene called HDAC9 might be a new factor in male-pattern baldness.

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.

research A Genome-Wide Association Study of Chemotherapy-Induced Alopecia in Breast Cancer Patients

32 citations, September 2013 in “Breast cancer research”

A specific gene variant is linked to a higher risk of hair loss from chemotherapy in breast cancer patients.

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.