An investigation of human apolipoproteins B and E polymorphisms in two African populations from Ethiopia and Benin

Corbo, Rosa Maria; Scacchi, R.; Rickards, Olga; Martínez-Labarga, C; Stefano, G. F. De

doi:10.1002/(sici)1520-6300(1999)11:3<297::aid-ajhb2>3.0.co;2-b

Cited by 15 publications

(6 citation statements)

References 34 publications

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“…Homozygosity for the ε4 variant (ApoE-ε4/ε4) reported to show the strongest association with Alzheimer's disease in western countries 29 was found at 2% in Somalia. These ApoE gene frequencies are close to those previously identified in the neighboring Ethiopia 28,30,31 .…”

Section: Genotype Data Verificationsupporting

confidence: 89%

Genome-wide analyses disclose the distinctive HLA architecture and the pharmacogenetic landscape of the Somali population

Ali

Aalto²,

Jonasson

et al. 2020

Sci Rep

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African populations are underrepresented in medical genomics studies. for the Somali population, there is virtually no information on genomic markers with significance to precision medicine. Here, we analyzed nearly 900,000 genomic markers in samples collected from 95 unrelated individuals in the north eastern Somalia. ADMiXtURe program for estimation of individual ancestries revealed a homogenous Somali population. principal component analysis with pLinK software showed approximately 60% East African and 40% West Eurasian genes in the Somali population, with a close relation to the Cushitic and Semitic speaking Ethiopian populations. We report the unique features of human leukocyte antigens (HLA) in the Somali population, which seem to differentiate from all other neighboring regions compared. Current study identified high prevalence of the diabetes type 1 (T1D) predisposing HLA DR-DQ haplotypes in Somalia. This finding may explain the increased T1D risk observed among Somali children. In addition, ethnic Somalis were found to host the highest frequencies observed thus far for several pharmacogenetic variants, including UGT1A4*2. In conclusion, we report that the Somali population displays genetic traits of significance to health and disease. The Somali dataset is publicly available and will add more information to the few genomic datasets available for African populations. Africa harbors the largest human genetic variation in the world 1-5 and many human gene variants are found only in Africa 6 including those associated with drug response. Yet, many ethnic populations in Sub-Saharan Africa are not represented in medical genomics studies found in the literature, mainly because of the generally lower level of medical research conducted in Sub-Saharan Africa compared with developed countries due to insufficient research infrastructures or resources. As a result, most of the human genetic variation present in Africa is yet unexplored. Some efforts have been made in recent years to better understand African genetic variation. These include studies that examined genetic markers for diabetes 7,8 and those investigating the genetic selection in Africa as a result of disease exposure or environmental adaptation 4,9. However, the need for more genomic data from African populations still persists, notably for underrepresented ethnolinguistic groups, including the Somali population, where there is still lack of information on genetic markers for drug responses, immunity and diseases. Somalia is located in the Horn of Africa (Somalia, Djibouti, Ethiopia, Eritrea,), a historic site for human migrations into either direction of Africa or Eurasia 10-13. Rock art paintings in multiple sites of Northern Somalia show Neolithic human activities in this part of East Africa 14,15. Later Himyarite and Sabaean inscriptions found in the same Somali region suggest existence of socio-cultural mingling with the ancient Axumite-South Arabian sphere 15. Due to the geographic location of Somalia, the Somalis have both African and non-Africa...

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Section: Genotype Data Verificationsupporting

confidence: 89%

Genome-wide analyses disclose the distinctive HLA architecture and the pharmacogenetic landscape of the Somali population

Ali

Aalto²,

Jonasson

et al. 2020

Sci Rep

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“…Along the second component the higher frequency of B002 found in Ethiopian and Yemenite Jews, compared to the other Jewish populations, pulls them towards the Asian samples. Genetic, archaeological and cultural evidence suggests that there has been a close relationship between Ethiopia and southern Arabia, particularly Yemen (Barnavi 1992; Corbo et al 1999; Gennarelli et al 1999; Passarino et al 1998; Philipson 1993; Rosenberg et al 2001; Tartaglia et al 1996; Tishkoff et al 1998), resulting in periods of gene flow between the two regions; the X‐chromosome data presented here further supports this theory. While there has likely been very little direct gene flow between Ethiopian and Yemenite Jews, given the isolation of Ethiopian Jews as indicated by their pre‐Talmud cultural and religious practices, there has undoubtedly been direct gene flow between non‐Jewish Ethiopian and Yemenite populations, and hence indirect gene flow between the Ethiopian and Yemenite Jewish populations.…”

Section: Discussionsupporting

confidence: 70%

“…De Stefano et al 2002; Gennarelli et al 1999), others have failed to find such differences (e.g. Corbo et al 1999; Passarino et al 1998; Tartaglia et al 1996). From the dys44 haplotype frequency data presented herein, no significant difference is found between the two populations, reflecting the likely high levels of admixture within and across the region.…”

Section: Discussionmentioning

confidence: 99%

Ethiopia: between Sub‐Saharan Africa and Western Eurasia

Lovell¹,

Moreau²,

Yotova³

et al. 2005

Annals of Human Genetics

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Summary Ethiopia is central to population genetic studies investigating the out of Africa expansion of modern humans, as shown by Y chromosome and mtDNA studies. To address the level of genetic differentiation within Ethiopia, and its relationship to Sub‐Saharan Africa and Eurasia, we studied an 8kb segment of the X‐chromosome from 72 chromosomes from the Amhara, Oromo and Ethiopian Jews, and compared these results with 804 chromosomes from Middle Eastern, African, Asian and European populations, and 22 newly typed Saharawi. Within Ethiopia the two largest ethnic groups, the Amhara and Oromo, were not found to be statistically distinct, based on an exact test of haplotype frequencies. The Ethiopian Jews appear as an admixed population, possibly of Jewish origin, though the data remain equivocal. There is evidence of a close relationship between Ethiopian and Yemenite Jews, likely a result of indirect gene flow. Within an African and Eurasian context, the distribution of alleles of a variable Tn repeat, and the spread of haplotypes containing Africa‐specific alleles, provide evidence of a genetic continuity from Sub‐Saharan Africa to the Near East, and furthermore suggest that a bottleneck occurred in Ethiopia associated with an out of Africa expansion. Ethiopian genetic heterogeneity, as evidenced by principal component analysis of haplotype frequencies, most likely resulted from periods of subsequent admixture. While these results are from the analysis of one locus, we feel that in association with data from other marker systems they add a complementary perspective on the history of Ethiopia.

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“…De Stefano et al 2002;Gennarelli et al 1999), others have failed to find such differences (e.g. Corbo et al 1999;Passarino et al 1998;Tartaglia et al 1996). From the dys44 haplotype frequency data presented herein, no significant difference is found between the two populations, reflecting the likely high levels of admixture within and across the region.…”

Section: Discussionmentioning

confidence: 49%

Ethiopia: between Sub-Saharan Africa and Western Eurasia

et al. 2005

View full text Add to dashboard Cite

Ethiopia is central to population genetic studies investigating the out of Africa expansion of modern humans, as shown by Y chromosome and mtDNA studies. To address the level of genetic differentiation within Ethiopia, and its relationship to Sub-Saharan Africa and Eurasia, we studied an 8 kb segment of the X-chromosome from 72 chromosomes from the Amhara, Oromo and Ethiopian Jews, and compared these results with 804 chromosomes from Middle Eastern, African, Asian and European populations, and 22 newly typed Saharawi. Within Ethiopia the two largest ethnic groups, the Amhara and Oromo, were not found to be statistically distinct, based on an exact test of haplotype frequencies. The Ethiopian Jews appear as an admixed population, possibly of Jewish origin, though the data remain equivocal. There is evidence of a close relationship between Ethiopian and Yemenite Jews, likely a result of indirect gene flow. Within an African and Eurasian context, the distribution of alleles of a variable T(n) repeat, and the spread of haplotypes containing Africa-specific alleles, provide evidence of a genetic continuity from Sub-Saharan Africa to the Near East, and furthermore suggest that a bottleneck occurred in Ethiopia associated with an out of Africa expansion. Ethiopian genetic heterogeneity, as evidenced by principal component analysis of haplotype frequencies, most likely resulted from periods of subsequent admixture. While these results are from the analysis of one locus, we feel that in association with data from other marker systems they add a complementary perspective on the history of Ethiopia.

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An investigation of human apolipoproteins B and E polymorphisms in two African populations from Ethiopia and Benin

Cited by 15 publications

References 34 publications

Genome-wide analyses disclose the distinctive HLA architecture and the pharmacogenetic landscape of the Somali population

Genome-wide analyses disclose the distinctive HLA architecture and the pharmacogenetic landscape of the Somali population

Ethiopia: between Sub‐Saharan Africa and Western Eurasia

Ethiopia: between Sub-Saharan Africa and Western Eurasia

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