SNPs as Stochastic Oscillators in Inheritance of Human Diseases.
Anticancer Res
; 44(1): 107-115, 2024 Jan.
Article
en En
| MEDLINE
| ID: mdl-38160010
ABSTRACT
BACKGROUND/AIM:
Genetic variants contribute to differences in disease susceptibility. The aim of the study was to elucidate if variants can affect human disease inheritance. MATERIALS ANDMETHODS:
Recently, a list of germline hotspot genetic variants across human autosomal chromosomes was published. Recording the genetic variant hotspots across autosomal chromosomes, their frequency was calculated for each distinct type of genetic variant hotspot and for each autosomal chromosome. Then, OMIM autosomal dominant (AD) and recessive diseases (AR) were counted across each chromosome having maximum and minimum coverage of each type of genetic variant hotspot and the data were compared. Subsequently, the study focused on chromosome 16 with the maximum and chromosome 13 with the minimum number of SNP hotspots. AD and AR diseases were recorded, inside or near the reported SNP variant hotspots of chromosome 16 and 13, and the data were compared. The SPSS software was used for statistical analyses.RESULTS:
Autosomal dominant diseases were mainly found in low SNP hotspot chromosomal regions compared to recessive ones, underlying SNPs' possible regulatory role in allelic imbalance. The haplotypic background may be the key factor for variant classification, which could explain the current inconsistencies among scientists with the same genetic variant to be classified as pathogenic, likely pathogenic, or of unknown significance.CONCLUSION:
Which came first the SNPs or the type of inheritance? Third next-generation sequencing with long reads could answer by phasing SNP alleles' haplotypes and tracing their in-cis and in-trans modulator function in human Mendelian and Complex inheritance.Palabras clave
Texto completo:
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Polimorfismo de Nucleótido Simple
/
Bases de Datos Genéticas
Límite:
Humans
Idioma:
En
Revista:
Anticancer Res
Año:
2024
Tipo del documento:
Article
País de afiliación:
Grecia
Pais de publicación:
Grecia