학술논문
A global population genomic analysis shows novel insights into the genetic characteristics of endometriosis
Document Type
Academic Journal
Author
Source
World Academy of Sciences Journal. March-April 2023, Vol. 5 Issue 2, p1, 14 p.
Subject
Language
English
ISSN
2632-2900
Abstract
Introduction Endometriosis is an enigmatic, benign, hormone-dependent gynecological disorder, defined by the presence of functional endometrium-like tissue (endometrial glands and stroma) external to the uterine cavity and affecting ~10% of [...]
The availability of single nucleotide polymorphisms (SNPs) associated with endometriosis, provides the opportunity for the study of this condition through SNP genomic profiles or, in other words, through disease genomic 'grammar' (DGG). The aim of the present study was to identify the genomic pedigree of endometriosis using its DGG through reported SNPs, for five major groups of the world human population, including Europeans, Africans, Americans, East Asians and South Asians. All the available allele frequencies of the endometriosis-related SNPs were analyzed based on the genome-wide association studies data from the studied population of the '1000 Genomes Project', and they were classified in the two sensitive categories of low and high allele frequencies. The final results, associated among the major groups of the human population, were annotated with beneficial knowledge from other studies. The variation of the DGG of endometriosis begins from the early beginning of the human species, as it has been associated with most genetic targets in its susceptible groups of the alleles frequency within the African population. The DGG of endometriosis has 296 and six common genetic targets of SNPs with low allele and high allele frequencies, respectively. However, there are marked differences between the five studied population groups. One disease, divergent phenotypes, with thousands of different scenarios that may cause it. The present analysis revealed notable 'key' genetic targets in the DGG of endometriosis, with the evidence of population-based heterogeneity. Further analysis of the DGG of endometriosis will allow for the understanding of the multifunctional biological pathways that exist and their diversity observed among populations, and will open new horizons in personalized medicine and functional genomics. Key words: endometriosis, population analysis, GWAS analysis, genomic grammar, genetic targets, polymorphisms, SNP, bioinformatics, population genetics Abbreviations: GWAS, genome-wide association studies; NGS, next-generation sequencing; SNP, single nucleotide polymorphism; DGG, disease genomic 'grammar'; DAD, Demetra Application database; IGSR, International Genome Sample Resource; VCF, variant call format
The availability of single nucleotide polymorphisms (SNPs) associated with endometriosis, provides the opportunity for the study of this condition through SNP genomic profiles or, in other words, through disease genomic 'grammar' (DGG). The aim of the present study was to identify the genomic pedigree of endometriosis using its DGG through reported SNPs, for five major groups of the world human population, including Europeans, Africans, Americans, East Asians and South Asians. All the available allele frequencies of the endometriosis-related SNPs were analyzed based on the genome-wide association studies data from the studied population of the '1000 Genomes Project', and they were classified in the two sensitive categories of low and high allele frequencies. The final results, associated among the major groups of the human population, were annotated with beneficial knowledge from other studies. The variation of the DGG of endometriosis begins from the early beginning of the human species, as it has been associated with most genetic targets in its susceptible groups of the alleles frequency within the African population. The DGG of endometriosis has 296 and six common genetic targets of SNPs with low allele and high allele frequencies, respectively. However, there are marked differences between the five studied population groups. One disease, divergent phenotypes, with thousands of different scenarios that may cause it. The present analysis revealed notable 'key' genetic targets in the DGG of endometriosis, with the evidence of population-based heterogeneity. Further analysis of the DGG of endometriosis will allow for the understanding of the multifunctional biological pathways that exist and their diversity observed among populations, and will open new horizons in personalized medicine and functional genomics. Key words: endometriosis, population analysis, GWAS analysis, genomic grammar, genetic targets, polymorphisms, SNP, bioinformatics, population genetics Abbreviations: GWAS, genome-wide association studies; NGS, next-generation sequencing; SNP, single nucleotide polymorphism; DGG, disease genomic 'grammar'; DAD, Demetra Application database; IGSR, International Genome Sample Resource; VCF, variant call format