A global population genomic analysis shows novel insights into the genetic characteristics of endometriosis

Abstract

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.

Lack of association between the VEGFA gene polymorphisms and preterm birth in Korean women

“…MAFs for each VEGFA polymorphism were different in Korea population (in East Asia population), Europe, and South Asia population ( Table 6 ). Also, each population is genetically distinct [ 40 ]. It can be seen that the effect of VEGFA gene on PTB is not consistent in different populations, which may be due to the genetic heterogeneity [ 39 ].…”

Association of endometriosis with Sjögren's syndrome: Genetic insights (Review)

“…A nine-fold increase in the risk of developing endometriosis among females from the East Asian population was found compared with European or American female populations ( 263 ). It is noteworthy that various studies are currently trying to delineate how disease risk variation is linked to ethnicity, and to identify minor differences in SNP variation and differences in autoimmune disease risk variants reported across different continental populations ( 263 ). The worldwide range of prevalence of SS is 0.05-4.8% with an overall 9:1 female-to-male ratio, which appears highest in Asian females ( 36 ).…”

“…In the same study ( 262 ), it was reported that patients with endometriosis were more likely to also have SS compared with controls ( 262 ). The risk of endometriosis has been strongly linked to ethnicity but the main differences between population groups have not been well defined ( 263 ). A nine-fold increase in the risk of developing endometriosis among females from the East Asian population was found compared with European or American female populations ( 263 ).…”

“…The risk of endometriosis has been strongly linked to ethnicity but the main differences between population groups have not been well defined ( 263 ). A nine-fold increase in the risk of developing endometriosis among females from the East Asian population was found compared with European or American female populations ( 263 ). It is noteworthy that various studies are currently trying to delineate how disease risk variation is linked to ethnicity, and to identify minor differences in SNP variation and differences in autoimmune disease risk variants reported across different continental populations ( 263 ).…”

Genetic factors involved in the co‑occurrence of endometriosis with ankylosing spondylitis (Review)

“…endometriosis affects 6-10% of women of childbearing age, and it has been estimated that 176 million women worldwide are affected by endometriosis, with significant costs for both affected women and for society (9) (http://endometriosis.org). Genetic and epigenetic factors, as well as environmental ones, including pollution agents and toxins, contribute to the development of this disease (8,10). The pathogenetic mechanisms leading to its development remain unclear, although several theories have been suggested thus far regarding the development of endometriosis.…”