The History and Geography of Human Genes

Cavalli-Sforza, Luigi Luca; Menozzi, Paolo; Piazza, Alberto

doi:10.1515/9780691187266

Cited by 257 publications

(217 citation statements)

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“…This pattern is also found in thiopurine methyltransferase, where 9.4% of African American (Hon et al, 1999), 10.1% of Caucasian ), 10.9% Kenyans (McLeod et al, 1999 and 14.8% of Ghanaian subjects showed variant alleles compared to 4.7% of Chinese subjects (CollieDuguid et al, 1999). This supports the hypothesis that multiple selective pressures will have distinct influences within populations (Cavalli-Sforza, 1996).…”

Section: Discussionsupporting

confidence: 84%

Novel thymidylate synthase enhancer region alleles in African populations

et al. 2000

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Thymidylate synthase (TS) regulates the production of DNA synthesis precursors and is an important target of cancer chemotherapy. A polymorphic tandem repeat sequence in the enhancer region of the TS promoter was previously described, where the triple repeat gives higher in vitro gene expression than a double repeat. We recently identified ethnic differences in allele frequencies between Caucasian and Asian populations. We now describe assessment of genotype and allele frequencies of the TS polymorphism in 640 African (African American, Ghanaian and Kenyan) and Caucasian (UK, USA) subjects. The double and triple repeat were the predominant alleles in all populations studied. The frequency of the triple repeat allele was similar between Kenyan (49%), Ghanaian (56%), African American (52%), American Caucasian (54%) and British Caucasian (54%) subjects. However, two novel alleles contained 4 and 9 copies of the tandem repeat. These novel alleles were found at a higher allele frequency in African populations (Kenyan 7%, Ghanaian 3%, African American 2%) than Caucasians (UK 1%, USA 0%). The novel alleles identified in this study decrease in frequency with Western migration, while the common alleles are relatively stable. This is a unique example suggesting the influence of multiple selection pressures within individual populations.

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Section: Discussionsupporting

confidence: 84%

Novel thymidylate synthase enhancer region alleles in African populations

et al. 2000

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“…On the other hand, it may reflect the higher prevalence of SLE in Southern Europe 13 or represent a peculiar characteristic of Sardinians, which deserves further investigations specifically addressing SLE susceptibility, since the islanders show a fully differentiated genetic profile from other populations. 35 There are some limitations to this study. First, although population-based administrative data have been proved to be useful tools in SLE research providing reliable case definitions, 36 reliance on a single source such as HDR reduces sensitivity and does not account for inherent error.…”

Section: Discussionmentioning

confidence: 94%

Population-based analysis of hospitalizations in a West-European region revealed major changes in hospital utilization for patients with systemic lupus erythematosus over the period 2001–2012

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Perra

et al. 2015

Lupus

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“…This is in the top 7.40% of the European vs. East Asian null-distribution. Given the lower average F ST observed between Saami and East Asians than between continental Europeans and East Asians, based on classical markers (Cavalli-Sforza et al 1988, 1994, the European vs East Asian comparison is likely to generate higher values than the true null-distribution of F ST between the Saami and the Chinese for neutral loci. We also note that polarity of the difference in Pro11Leu allele frequency, with a higher frequency of the T allele in the Saami, is consistent with our hypothesis.…”

Section: Discussionmentioning

confidence: 96%

“…Allele C corresponds to the AGXT major allele, encoding Pro11; allele T corresponds to the AGXT minor allele, encoding Leu11 (ANT Anatolian Turks, ARM Armenians, ASH Ashkenazi Jews, CHI Chinese, ETH Ethiopians, IND Indians (from Mombai), MON Mongolians, NIG Nigerians, NOR Norwegians, NOW North Welsh, SAM Saami)European/East Asian data sets is a conservative one. This is because previous studies of a large number of classical polymorphic markers(Cavalli-Sforza et al 1988, 1994 have shown that the F ST between Saami and East Asian populations are typically lower than those between continental European and East Asian populations. However, a comparison of the Saami/Nigerian Pro11Leu allele F ST against the null-distribution of F ST for the European/African American data sets is likely to be biased in favour of F ST outlier status for the Pro11-…”

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confidence: 99%

Diet and the frequency of the alanine:glyoxylate aminotransferase Pro11Leu polymorphism in different human populations

et al. 2004

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The intermediary metabolic enzyme alanine:glyoxylate aminotransferase (AGT) contains a Pro11Leu polymorphism that decreases its catalytic activity by a factor of three and causes a small proportion to be mistargeted from its normal intracellular location in the peroxisomes to the mitochondria. These changes are predicted to have significant effects on the synthesis and excretion of the metabolic end-product oxalate and the deposition of insoluble calcium oxalate in the kidney and urinary tract. Based on the evolution of AGT targeting in mammals, we have previously hypothesised that this polymorphism would be advantageous for individuals who have a meat-rich diet, but disadvantageous for those who do not. If true, the frequency distribution of Pro11Leu in different extant human populations should have been shaped by their dietary history so that it should be more common in populations with predominantly meat-eating ancestral diets than it is in populations in which the ancestral diets were predominantly vegetarian. In the present study, we have determined frequency of Pro11Leu in 11 different human populations with divergent ancestral dietary lifestyles. We show that the Pro11Leu allelic frequency varies widely from 27.9% in the Saami, a population with a very meat-rich ancestral diet, to 2.3% in Chinese, who are likely to have had a more mixed ancestral diet. FST analysis shows that the differences in Pro11Leu frequency between some populations (particularly Saami vs Chinese) was very high when compared with neutral loci, suggesting that its frequency might have been shaped by dietary selection pressure.

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The History and Geography of Human Genes

Cited by 257 publications

References 0 publications

Novel thymidylate synthase enhancer region alleles in African populations

Novel thymidylate synthase enhancer region alleles in African populations

Population-based analysis of hospitalizations in a West-European region revealed major changes in hospital utilization for patients with systemic lupus erythematosus over the period 2001–2012

Diet and the frequency of the alanine:glyoxylate aminotransferase Pro11Leu polymorphism in different human populations

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