Exploring Nigeria’s Genetic Diversity – A Fascinating Journey

August 8, 2023 | Written by Sunail Ahmad

This news will uncover Nigeria’s genetic diversity

NEW YORK – A consortium encompassing researchers from the United States, Nigeria, and the United Kingdom has embarked on the intricate task of unraveling the extensive genetic tapestry interwoven within and between Nigerian populations.This groundbreaking effort is ready to establish itself as the foundation for future genomic explorations and the progress of personalized healthcare initiatives throughout Africa.

“In the grand pursuit of health precision parity, we proudly showcase an assorted cohort hailing from a plethora of ethnolinguistic clusters. This spectacle unfolds within one of the most intricate hubs of human diversity on our planet,” remarked Abasi Ene-Obong, senior author and co-founder/CEO of 54gene, a health technology firm based in Washington, D.C.

Ene-Obong further underscored that this innovative research encapsulates roughly 10 percent of the ethnolinguistic enclaves existing within Nigeria. Significantly, he emphasized the existence of numerous additional populations in Nigeria and the broader African landscape. The interplay of diseases and environment has uniquely shaped each of these enclaves, bearing their unique exposures, adaptations, and historical filters.

Presented in the pages of Cell Genomics on a Tuesday, the team’s laborious efforts involved deciphering the genomes of 449 Nigerian individuals representing 47 distinct ethnolinguistic factions. We recruited these participants from research sites spanning 18 states across the nation The outcome yielded a repository of approximately 36 million SNPs (single nucleotide polymorphisms), as well as minute insertions and deletions. This repository underpinned their meticulous analyses encompassing population structure, genetic variances, and medically pertinent risk-associated variations.

“As far as our knowledge extends, this constitutes one of the pioneer human studies conducted on the African continent where a substantive fraction of whole-genome sequencing transpired. This endeavor corroborates the resounding call from numerous scholars advocating the co-steering of population genomics by local experts. Additionally, it underscores the imperative to establish robust capacities within vastly diverse geographical hubs. This, in turn, benefits the local ecosystem and bolsters global strides within the sphere of genomic sciences,” elucidated Ene-Obong.

Delving into the matrix of population structure and akin analyses spotlighted within the study, the collective juxtaposed the freshly sequenced Nigerian genomes. This was done both amongst themselves and vis-à-vis genomic sequences from over 400 participants hailing from diverse African nations. This was augmented with comprehensive sequence data from 650 African individuals assessed at the New York Genome Center, contributing to the ambitious 1000 Genomes Project.

Ene-Obong remarked, “As the curtain of population structure lifts, we discern genetic kinship interwoven amongst the ethnolinguistic entities. This intricate lattice often echoes or intertwines with their geographical residences.”

The meticulous analyses unveiled clusters of genetically analogous ethnolinguistic segments within the southern stretches of Nigeria. These distinct clusters stood in contrast to enclaves in central, west-central, and northwestern Nigeria. On an intriguing tangent, individuals tracing their lineage to Fulani, Hausa, and Kanuri groups manifested heightened genetic diversity. Their genetic footprints traced back to North African and European roots, hinting at a rich historical amalgamation.

Along the scientific journey, the researchers unearthed a treasure trove of hitherto unnoticed genetic anomalies. Some of these variants appeared infrequently within previously profiled European populations. However, the analysis revealed that specific ethnolinguistic clusters within Nigeria had higher instances of these rare variants.

For instance, the unique genetic makeup of Fulani and Kanuri individuals exhibited slightly diminished rates of rare variants compared to their counterparts. This intriguing variance might be ascribed to the infusion of North African and European ancestry, an observation gleaned from the team’s exhaustive ancestry assessments. Additionally, the spectrum of unidentified variants exhibited a lower prevalence within groups hailing from the extensively studied territories of southern Nigeria.

The cadre of researchers conjectured that the fresh deluge of sequence data might furnish invaluable insights into the genesis of noncommunicable afflictions, such as cancer, heart disease, and type 2 diabetes. This data could potentially underpin the development of targeted personalized medical strategies tailored to combat these ailments, not only within Nigeria but spanning other corners of Africa.

The authors embarked on an expedition to explore the prevalence of pharmacogenetic variants across the array of ethnolinguistic profiles. They posited that the results gleaned from the Nigerian genomic matrix carry far-reaching implications for precision medicine on a global scale. This might entail the prioritization of more vulnerable cohorts for thorough screenings or calibration of population-specific drug dosages.

Within the mosaic of genomes cataloged, 134 variants were classified as pathogenic in ClinVar.Ene-Obong, however, highlighted that initiatives like these are ready to enhance the classification of pathogenic or potentially pathogenic variants. This enhancement will be based on diverse human populations, as researchers explore allele frequency estimates and disease associations across the global spectrum.

This pioneering study is ready to illuminate and guide subsequent endeavors aimed at uncovering latent genetic mysteries, outlining intricacies of population structure, and clarifying the multifaceted factors contributing to disease susceptibility.Ene-Obong acknowledged that Nigeria alone harbors an astonishing 300 to 500 ethnolinguistic groupings.

“Our findings, in no uncertain terms, underscore the treasure trove of publicly accessible whole-genome sequencing data culled from understudied African populations. This resource emerges as a pivotal asset, facilitating the comprehensive cataloging of genetic diversity. It propels initiatives in precision medicine, enriches the foundation of human reference genomes, and weaves a narrative of population histories,” the authors concluded.