Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics

Sirugo, Giorgio; Hennig, Branwen J.; Adeyemo, Adebowale; Matimba, Alice; Newport, Melanie J.; Ibrahim, Muntaser E.; Ryckman, Kelli K.; Tacconelli, Alessandra; Mariani-Costantini, Renato; Novelli, Giuseppe; Soodyall, Himla; Rotimi, Charles N.; Ramesar, Raj; Tishkoff, Sarah A.; Williams, Scott M.

doi:10.1007/s00439-008-0511-y

Cited by 80 publications

(69 citation statements)

References 431 publications

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“…Africa | human genomics | population genetics S tudies of African genetic diversity have greatly informed our understanding of human origins and history (1,2), have identified genes under natural selection across evolutionary time (3), and hold great potential for elucidating the genetic bases of disease susceptibility and drug response among diverse human populations (4,5). The study of African population structure is also critical for reconstructing patterns of African ancestry among African Americans and for enabling genome-wide association mapping of complex disease susceptibility and pharmacogenomic response in African-American populations (6)(7)(8)(9).…”

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confidence: 99%

Genome-wide patterns of population structure and admixture in West Africans and African Americans

Bryc

Auton

Nelson

et al. 2009

Proc. Natl. Acad. Sci. U.S.A.

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Quantifying patterns of population structure in Africans and African Americans illuminates the history of human populations and is critical for undertaking medical genomic studies on a global scale. To obtain a fine-scale genome-wide perspective of ancestry, we analyze Affymetrix GeneChip 500K genotype data from African Americans ( n = 365) and individuals with ancestry from West Africa ( n = 203 from 12 populations) and Europe ( n = 400 from 42 countries). We find that population structure within the West African sample reflects primarily language and secondarily geographical distance, echoing the Bantu expansion. Among African Americans, analysis of genomic admixture by a principal component-based approach indicates that the median proportion of European ancestry is 18.5% (25th–75th percentiles: 11.6–27.7%), with very large variation among individuals. In the African-American sample as a whole, few autosomal regions showed exceptionally high or low mean African ancestry, but the X chromosome showed elevated levels of African ancestry, consistent with a sex-biased pattern of gene flow with an excess of European male and African female ancestry. We also find that genomic profiles of individual African Americans afford personalized ancestry reconstructions differentiating ancient vs. recent European and African ancestry. Finally, patterns of genetic similarity among inferred African segments of African-American genomes and genomes of contemporary African populations included in this study suggest African ancestry is most similar to non-Bantu Niger-Kordofanian-speaking populations, consistent with historical documents of the African Diaspora and trans-Atlantic slave trade.

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mentioning

confidence: 99%

Genome-wide patterns of population structure and admixture in West Africans and African Americans

Bryc

Auton

Nelson

et al. 2009

Proc. Natl. Acad. Sci. U.S.A.

Self Cite

428

417

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“…There is considerable individual variation in the immune protection produced in response to vaccines for both viral and bacterial infections; it is reasonable to expect genetic factors to play a role in this variation, given the known heritability of vaccine responses (15,20) and reports on positive candidate gene association studies (20,25). The HLA region has been examined extensively for associations, and increasingly, non-HLA genes, such as those assessed here, have been associated with vaccine-induced immune responses.…”

Section: Discussionmentioning

confidence: 94%

Single Nucleotide Polymorphisms in the Toll-Like Receptor 3 and CD44 Genes Are Associated with Persistence of Vaccine-Induced Immunity to the Serogroup C Meningococcal Conjugate Vaccine

Moore

Hennig

Perrett

et al. 2011

Clin. Vaccine Immunol.

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fThe rate of decay of antibody concentration following serogroup C meningococcal (MenC) polysaccharide-protein conjugate vaccination varies between individuals. This depends partly on vaccination age but may be influenced by human genetics. We studied 721 single nucleotide polymorphisms (SNPs) across 131 candidate genes in a first cohort of 905 Caucasians (11 to 21 years old; mean time after vaccination, 4.9 years) and 30 SNPs across 17 genes in a replication study using 155 children, aged 6 to 12 years (mean time after vaccination, 6.7 years), and 196 infants (1 year old; mean time after vaccination, 8 months). Individuals were classified as responders or nonresponders for total MenC IgG concentration and MenC serum bactericidal antibody (SBA) measurements. Associated genes were examined further for quantitative outcome measures. Fifty-nine SNPs in 37 genes were associated with IgG persistence (adjusted for age at measurement), and 56 SNPs in 36 genes were associated with SBA persistence (adjusted for age at measurement and vaccine used). Three SNPs each within the Toll-like receptor 3 (TLR3) (rs3775291, rs3775292, and rs5743312) and CD44 (rs11033013, rs353644, and rs996076) genes were associated with IgG (adjusted for age at measurement) or SBA (adjusted for age at measurement and vaccine used) persistence in the initial genetic study (P, 0.02 to 0.04). Single SNPs within the TLR3 (rs7657186) (P ‫؍‬ 0.004 [unadjusted]) and CD44 (rs12419062) (P ‫؍‬ 0.01 [unadjusted]) genes were associated with IgG persistence in the replication study. These results suggest that genetic polymorphisms in the TLR3 and CD44 genes are associated with the persistence of the immune response to MenC vaccines 1 to 6 years after vaccination.

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“…The different approaches used in studies focused on genetic susceptibility to disease in African populations have been previously described by Sirugo et al [18]. Among the approaches used for searching for hypertension loci, few are linkage studies and most often are association studies [19].…”

Section: Discussionmentioning

confidence: 99%

Renin-angiotensin system genes polymorphisms and essential hypertension in Burkina Faso, West Africa

Kologo¹,

Tchelougou²,

Karou³

et al. 2017

Archives of Cardiovascular Diseases Supplements

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Objective. This study aimed to investigate the association between three polymorphisms of renin-angiotensin system and the essential hypertension in the population of Burkina Faso. Methodology. This was a case-control study including 202 cases and 204 matched controls subjects. The polymorphisms were identified by a classical and a real-time PCR. Results. The AGT 235M/T and AT1R 1166A/C polymorphisms were not associated with the hypertension while the genotype frequencies of the ACE I/D polymorphism between patients and controls (DD: 66.83% and 35.78%, ID: 28.22% and 50.98%, II: 4.95% and 13.24%, resp.) were significantly different (p < 10 −4 ). The genotype DD of ACE gene (OR = 3.40, p < 0.0001), the increasing age (OR = 3.83, p < 0.0001), obesity (OR = 4.84, p < 0.0001), dyslipidemia (OR = 3.43, p = 0.021), and alcohol intake (OR = 2.76, p < 0.0001) were identified as the independent risk factors for hypertension by multinomial logistic regression. Conclusion. The DD genotype of the ACE gene is involved in susceptibility to hypertension. Further investigations are needed to better monitor and provide individualized care for hypertensive patients.

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Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics

Cited by 80 publications

References 431 publications

Genome-wide patterns of population structure and admixture in West Africans and African Americans

Genome-wide patterns of population structure and admixture in West Africans and African Americans

Single Nucleotide Polymorphisms in the Toll-Like Receptor 3 and CD44 Genes Are Associated with Persistence of Vaccine-Induced Immunity to the Serogroup C Meningococcal Conjugate Vaccine

Renin-angiotensin system genes polymorphisms and essential hypertension in Burkina Faso, West Africa

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