scholarly journals Linkage Disequilibrium Patterns and tagSNP Transferability among European Populations

2005 ◽  
Vol 76 (3) ◽  
pp. 387-398 ◽  
Author(s):  
Jakob C. Mueller ◽  
Elin Lõhmussaar ◽  
Reedik Mägi ◽  
Maido Remm ◽  
Thomas Bettecken ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
European Populations

Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two South European populations

1989 ◽  
Vol 83 (2) ◽  
pp. 175-178 ◽  
Author(s):  
X. Estivill ◽  
P. Gasparini ◽  
G. Novelli ◽  
T. Casals ◽  
V. Nunes ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Linkage Disequilibrium ◽  
European Populations

scholarly journals Cyto-nuclear linkage disequilibrium resulting from admixture

2020 ◽  
Author(s):  
Peter D. Fields ◽  
David E. McCauley ◽  
Douglas R. Taylor
Keyword(s):  
Linkage Disequilibrium ◽  
North American ◽  
Invasive Plant ◽  
Mitochondrial Gene ◽  
Nuclear Genome ◽  
Silene Latifolia ◽  
Nuclear Microsatellite ◽  
Using Data ◽  
European Populations ◽  
Study Species

ABSTRACTPrevious studies of North American populations of the invasive plant Silene latifolia showed significant cyto-nuclear linkage disequilibrium (CNLD) between SNP variants of a mitochondrial gene (atp1) and the most common allele at nuclear microsatellite loci. Fields et al. (2014) hypothesized that this CNLD arose partially as a consequence of admixture that occurred during the colonization of North American (NA) populations of S latifolia via seed dispersal from genetically differentiated European populations that represent a portion of the native range of this species. In order to evaluate the plausibility of the admixture hypothesis, as opposed to metapopulation processes alone, we estimated CNLD for these same loci using data collected from eastern (EEU) and western (WEU) European populations of S. latifolia known to be genetically differentiated and likely sources of the spread of the study species to North America. We show that the CNLD found previously in NA populations of S. latifolia can be attributed to admixture of the previously isolated European demes coupled with decay since that time. Our applied framework allows the separation of the forces generating and dissolving statistical associations between alleles in cytoplasmic organelles and the nuclear genome and may thus be of utility in the study of plant or animal microbiomes.

Prevalence of Factor V Leiden Mutation in Non-European Populations

1997 ◽  
Vol 77 (02) ◽  
pp. 329-331 ◽  
Author(s):  
Guglielmina Pepe ◽  
Olga Rickards ◽  
Olga Camacho Vanegas ◽  
Tamara Brunelli ◽  
Anna Maria Gori ◽  
...  
Keyword(s):  
Factor V Leiden ◽  
Indirect Evidence ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
The World ◽  
Fv Leiden ◽  
Sub Saharan ◽  
Low Prevalence ◽  
European Populations ◽  
Apparently Healthy

SummaryA difference in the prevalence of venous thromboembolism (TE) in major human groups has been described and an uneven distribution of FV Leiden mutation over the world has recently been reported.We investigated FV Leiden mutation in 584 apparently healthy sub#jects mostly from populations different from those previously investi#gated: 170 Europeans (Spanish, Italians), 101 sub-saharan Africans (Fon, Bariba, Berba, Dendi), 115 Asians (Indonesians, Chinese, Tharus), 57 Amerindians (Cayapa), 84 Afroamericans (Rio Cayapa, Viche), and 57 Ethiopians (Amhara, Oromo).The mutation was detected in only 1/115 Asian (Tharu) and in 5/170 Europeans (4 Italians, 1 Spanish).These data confirm that in non-Europeans the prevalence of FV mutation is at least 7 times lower than in Europeans and provide indirect evidence of a low prevalence not only of the FV Leiden gene but also of other genes leading to more severe thrombophilia. Finally, findings from the literature together with those pertaining to this study clearly show a marked heterogeneity among Europeans.

Association of multiple nucleotide variations in the pituitary glutaminyl cyclase gene QPC with low radial BMD in adult women.

2020 ◽  
Author(s):  
Lungwani Muungo
Keyword(s):  
Linkage Disequilibrium ◽  
Multiple Regression ◽  
Genetic Variations ◽  
Strong Linkage Disequilibrium ◽  
Adult Women ◽  
Nucleotide Polymorphisms ◽  
Haplotype Estimation ◽  
Factors Affecting ◽  
Glutaminyl Cyclase ◽  
Strong Linkage

Correlation between 13 genetic variations of the glutaminyl-peptide cyclotransferase gene andadjusted aBMD was tested among 384 adult women. Among 13 variations with strong linkage disequilibrium,R54W showed a prominent association (p ? 0.0003), which was more striking when examined among 309 eldersubjects (>50 years; p ? 0.0001). Contribution for postmenopausal bone loss was suggested.Introduction: Alterations in homeostatic regulation of estrogen through the hypothalamus-pituitary-gonadal axis(HPG axis) importantly affect the pathogenesis of osteoporosis. Osteoporosis-susceptibility genes have beenproposed in this hormonal axis, such as estrogen receptor genes and the gonadotropin-releasing hormone gene(GnRH). Here we report another example of genes: glutaminyl-peptide cyclotransferase gene (QPCT), an essentialmodifier of pituitary peptide hormones, including GnRH.Materials and Methods: Analyses of association of 13 single nucleotide polymorphisms (SNPs) at the QPCT locuswith adjusted areal BMD (adj-aBMD) were carried out among 384 adult women. Linkage disequilibrium (LD) wasanalyzed by haplotype estimation and calculation of D? and r2. Multiple regression analysis was applied forevaluating the combined effects of the variations.Results and Conclusions: LD analysis indicated strong linkage disequilibrium within the entire 30-kb region of theQPCT gene. Significant correlations were observed between the genotypes of the six SNPs and the radial adj-aBMD,among which R54W (nt ? 160C?T) presented the most prominent association (p ? 0.0003). Striking associationwas observed for these SNPs among the 309 subjects ?50 years of age (R54W, p ? 0.0001; ?1095T?C, p ?0.0002; ?1844C?T, p ? 0.0002). Multiple regression analyses indicated that multiple SNPs in the gene might actin combination to determine the radial adj-aBMD. These results indicate that genetic variations in QPCT are theimportant factors affecting the BMD of adult women that contribute to susceptibility for osteoporosis. The datashould provide new insight into the etiology of the disease and may suggest a new target to be considered duringtreatment.J Bone Miner

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