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The challenge of decoding information about complex diseases hidden in huge number of single nucleotide polymorphism (SNP) genotypes is undertaken based on five dbGaP studies. Current genome-wide association studies have successfully identified many high-risk SNPs associated with diseases, but precise diagnostic models for complex diseases by these or more other SNP genotypes are still unavailable in the literature. We report that lung cancer, breast cancer and prostate cancer as the first three top cancers worldwide can be predicted precisely via 240-370 SNPs with accuracy up to 99% according to leave-one-out and 10-fold cross-validation. Our findings (1) confirm an early guess of Dr. Mitchell H. Gail that about 300 SNPs are needed to improve risk forecasts for breast cancer, (2) reveal an incredible fact that SNP genotypes may contain almost all information that one wants to know, and (3) show a hopeful possibility that complex diseases can be precisely diagnosed by means of SNP genotypes without using phenotypical features. In short words, information hidden in SNP genotypes can be extracted in efficient ways to make precise diagnoses for complex diseases.
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http://dx.doi.org/10.1038/s41598-020-80832-x | DOI Listing |
Sci Prog
September 2025
Xiamen Eye Center and Eye Institute of Xiamen University, School of Medicine, Xiamen, China.
BackgroundGlaucoma is recognized as the second-leading cause of complete blindness in developed countries and a significant contributor to irreversible vision loss worldwide. Understanding the potential genetic links between neurodegenerative diseases, such as Parkinson's disease, and glaucoma is crucial for developing preventive strategies.MethodsThis study utilized data from Genome-Wide Association Studies databases, focusing on European populations without gender restrictions.
View Article and Find Full Text PDFInt J Environ Health Res
September 2025
Department of Epidemiology, School of Public Health, Shanxi Medical University, Jinzhong, China.
The mechanism underlying the effects of Polycyclic aromatic hydrocarbons (PAHs) on missed abortion (MA) remains unclear. This study explored the relationship between PAHs exposure, telomere length (TL), metabolizing enzyme gene polymorphism, and MA in a case-control study with 253 pregnant women. A competitive enzyme-linked immunosorbent assay (ELISA) was used to quantify PAH-DNA adducts.
View Article and Find Full Text PDFJ Anim Sci
September 2025
USDA, ARS, U.S. Meat Animal Research Center, Clay Center, NE, 68933 USA.
Low-coverage sequencing refers to sequencing DNA of individuals to a low depth of coverage (e.g., 0.
View Article and Find Full Text PDFJ Anim Sci
September 2025
U.S. Meat Animal Research Center, USDA, ARS, Clay Center, NE 68933, USA.
Liver abscesses are a concern in feedlot cattle, and little is known about the role of genetics in their development. This study aimed to estimate genetic parameters and to identify single nucleotide polymorphisms (SNP) associated with liver abscesses. Crossbred cattle representing 18 breeds in the United States Meat Animal Research Center Germplasm Evaluation Program were phenotyped for liver abscesses at slaughter (n = 9,044).
View Article and Find Full Text PDFMedicine (Baltimore)
September 2025
Department of Oncology, No. 971 Hospital of PLA Navy, Shinan District, Qingdao, China.
Breast cancer is a major health threat to women, with limited effective indicators for early screening and prognosis. The role of sphingosine 1-phosphate receptor 1 (S1PR1) in breast cancer remains controversial. This study aims to explore the potential causal relationship between S1PR1 and breast cancer risk, considering estrogen receptor (ER) status.
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