Genetics Research
rs1042602
Population Frequencies12
African
C 0.9277A 0.0723CC 0.862289CA/AC 0.130812AA 0.006898pop=71,614
African American
C 0.92546A 0.07454CC 0.858035CA/AC 0.134855AA 0.00711pop=69,200
African Others
C 0.9917A 0.0083CC 0.984258CA/AC 0.014913AA 0.000829pop=2,414
Asian
C 0.98982A 0.01018CC 0.980466CA/AC 0.01871AA 0.000824pop=16,996
East Asian
C 0.99889A 0.00111CC 0.997788CA/AC 0.002212AA 0pop=12,660
European
C 0.626339A 0.373661CC 0.394953CA/AC 0.462771AA 0.142276pop=620,626
Latin American 1
C 0.7167A 0.2833CC 0.513462CA/AC 0.406469AA 0.08007pop=11,440
Latin American 2
C 0.76997A 0.23003CC 0.599636CA/AC 0.340678AA 0.059686pop=23,054
Other
C 0.70563A 0.29437CC 0.517154CA/AC 0.376956AA 0.10589pop=41,156
Other Asian
C 0.9633A 0.0367CC 0.929889CA/AC 0.066882AA 0.003229pop=4,336
South Asian
C 0.8802A 0.1198CC 0.778818CA/AC 0.202693AA 0.018489pop=8,762
Studies17
Unread Studies17 ▼
1
The prediction of externally visible characteristics (EVCs) is widely used in the forensic sciences to assist investigations in which the identity of perpetrators or victims is unknown. Genetic markers associated with pigmentation traits have been extensively studied for predicting phenotypic traits such as hair, eyes and skin color, as well as freckles, through the analysis of single nucleotide polymorphisms (SNPs). This study analyzed the association between six SNPs in pigmentation genes (rs1…
2
Psychiatric disorders are frequently comorbid with ocular diseases, yet the shared genetic basis and potential causal links remain unclear. This study aimed to systematically investigate the shared genetic architecture, bidirectional causality, and implicated biological pathways between common psychiatric disorders and ocular diseases. We analyzed four psychiatric disorders and eight ocular diseases using an integrative genome-wide analytical framework. We used linkage disequilibrium score regre…
3
Three nonsynonymous single nucleotide variations (SNVs), rs1042602 in TYR (p.S192Y), rs1426654 in SLC24A5 (p.A111T), and rs16891982 in SLC45A2 (p.L374F), were associated with human skin pigmentation variation and may have recently undergone positive natural selection. Furthermore, these three SNVs have been reported to correlate with the risk and prognosis of melanoma. To simultaneously determine these three SNVs, a triplex fluorescent probe-based melting curve assay (FMCA) was developed. The me…
4
Melasma is a chronic skin disorder characterized by hyperpigmentation, predominantly affecting women with darker skin types, including those of African descent. This study investigates the association between genetic variants in SLC45A2, TYR, HERC2, and SLC24A5 genes and the severity of melasma in women of reproductive age. Forty participants were divided into two groups: twenty with facial melasma and twenty without. Deoxyribonucleic acid (DNA) was extracted from blood samples and genotyped usi…
5
Skin pigmentation is negatively associated with circulating vitamin D (VD) concentration. Therefore, genetic factors involved in skin pigmentation could influence the risk of vitamin D deficiency (VDD). We evaluated the impact genetic variants related to skin pigmentation on VD in Mexican population. This cross-sectional analysis included 848 individuals from the Health Worker Cohort Study (ratio males to females ~ 1:3). Eight genetic variants: rs16891982 (SLC45A2), rs12203592 (IRF…
6
Albinism is a heterogeneous condition in which patients present complete absence, reduction, or normal pigmentation in skin, hair and eyes in addition to ocular defects. One of the heterogeneous forms of albinism is observed in Hermansky-Pudlak syndrome (HPS) patients. HPS is characterized by albinism and hemorrhagic diathesis due to the absence of dense bodies in platelets. In this report, we describe a case of a pair of Puerto Rican siblings with albinism that were clinically diagnosed with HP…
7
Cutaneous melanoma is the most aggressive of skin tumors. In order to discover new biomarkers that could help us improve prognostic prediction in melanoma patients, we have searched for germline DNA variants associated with melanoma progression. Thus, after exome sequencing of a set of melanoma patients and healthy control individuals, we identified rs1042602, an SNP within TYR, as a good candidate. After genotyping rs1042602 in 1025 patients and 773 healthy donors, we found that the rs1042602-A…
8
TYR encodes tyrosinase, the enzyme catalysing the first steps of melanin biosynthesis in melanocytes and retinal pigment epithelia (RPE). The TYR c.575C>A (p.Ser192Tyr) [rs1042602] and c.1205G>A (p.Arg402Gln) [rs1126809] variants are prevalent genetic changes that have been associated with multiple pigmentation traits. Notably, individuals who are homozygous for these two missense variants are predisposed to having albinism. Here we used CRISPR-Cas9 technology to generate an induced plurip…
9
To assess the impact of two TYR hypomorphic alleles (R402Q and S192Y) on foveal pit and foveal avascular zone (FAZ) morphology. Prospective, cross-sectional study. A total of 164 participants with normal vision (67 male and 97 female; mean ± standard deviation [SD] age = 30.5 ± 12.8 years) were recruited. Sequencing of more than 100 pigmentation-related genes was performed, and results were reviewed for the presence or absence of the TYR polymorphisms R402Q (rs1126809) and S192Y (…
10
Human skin color is highly heritable and one of the most variable phenotypic traits. However, the genetic causes and environmental selective pressures underlying this phenotypic variation have remained largely unknown. To investigate whether the pigmentation related-genes polymorphisms are associated with the geographic environmental variables. We selected randomly 795 healthy individuals from eight ethnic groups in nine provinces in China. Six single nucleotide polymorphisms (SNPs) of SLC45A2 a…
11
Skin pigmentation is one of the most prominent and variable phenotypes in humans. We compared the alleles of 163 SNPs and indels from the Human Pigmentation (HuPi) AmpliSeq™ Custom panel, and biogeographic ancestry with the quantitative skin pigmentation levels on the upper arm, lower arm, and forehead of 299 Pakistani individuals from three subpopulations: Baloch, Pashtun, and Punjabi. The biogeographic ancestry of each individual was estimated using the Precision ID Ancestry Panel. All…
12
Association studies in recently admixed populations are extremely useful to identify the genetic architecture of pigmentation, due to their high genotypic and phenotypic variation. However, to date only four Genome-Wide Association Studies (GWAS) have been carried out in these populations. We present a GWAS of skin pigmentation in an admixed sample from Cuba (N = 762). Additionally, we conducted a meta-analysis including the Cuban sample, and admixed samples from Cape Verde, Puerto…
13
Melanoma and prostate cancer may share risk factors. This study examined the association between serum PSA levels, which is a risk factor for prostate cancer, and variants in some melanoma-associated pigmentary genes. We studied participants, all aged 70+ years, in the Concord Health and Ageing in Men Project who had no history of prostatitis or received treatment for prostate disease (n = 1033). We genotyped variants in MC1R (rs1805007, rs1805008), ASIP (rs4911414, rs1015362), SLC45A2 (rs28777,…
14
South Asians exhibit extensive variation in skin melanin index (MI) which is observed across the broader region of South Asia as well as within restricted geographic regions. However, the genetic variants associated with variation in the skin pigmentation phenotype are poorly understood in these populations. The present study examines the association between MI measures and genetic variants from 5 candidate pigmentation genes among 533 individuals representing 6 populations of West Maharashtra.…
15
The role of epistatic effects in the determination of complex traits is often underlined but its significance in the prediction of pigmentation phenotypes has not been evaluated so far. The prediction of pigmentation from genetic data can be useful in forensic science to describe the physical appearance of an unknown offender, victim, or missing person who cannot be identified via conventional DNA profiling. Available forensic DNA prediction systems enable the reliable prediction of several eye…
16
The Brazilian population was formed by extensive admixture of three different ancestral roots: Amerindians, Europeans and Africans. Our previous work has shown that at an individual level, ancestry, as estimated using molecular markers, was a poor predictor of color in Brazilians. We now investigate if SNPs known to be associated with human skin pigmentation can be used to predict color in Brazilians. For that, we studied the association of fifteen SNPs, previously known to be linked with skin c…
17
Peripheral arterial disease (PAD) is associated with significant morbidity and mortality, and has a higher prevalence in African Americans than Caucasians. Ankle-arm index (AAI) is the ratio of systolic blood pressure in the leg to that in the arm, and, when low, is a marker of PAD. The authors used an admixture mapping approach to search for genetic loci associated with low AAI. Using data from 1040 African American participants in the observational, population based Health, Aging, and Body Com…
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