Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region: implications for mapping the hemochromatosis gene (HFE)

1996 ◽  
Vol 97 (1) ◽  
pp. 103-113 ◽  
Author(s):  
Gwenola Gandon ◽  
Anne Marie Jouanolle ◽  
Bruno Chauvel ◽  
Valérie Mauvieux ◽  
André Le Treut ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Extended Haplotypes ◽  
Hemochromatosis Gene

A haplotype and linkage disequilibrium analysis of the hereditary hemochromatosis gene region

1998 ◽  
Vol 102 (5) ◽  
pp. 517-525 ◽  
Author(s):  
W. Thomas ◽  
A. Fullan ◽  
Deborah B. Loeb ◽  
Erin E. McClelland ◽  
Bruce R. Bacon ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Hereditary Hemochromatosis ◽  
Gene Region ◽  
Linkage Disequilibrium Analysis ◽  
Hemochromatosis Gene

Linkage disequilibrium of HLA-SB1 with the HLA-A1, B8, DR3, SCO1 and of HLA-SB4 with the HLA-A26, Bw38, Dw10, DR4, SC21 extended haplotypes

1984 ◽  
Vol 20 (6) ◽  
pp. 623-631 ◽  
Author(s):  
Yoshiki Matsui ◽  
Sharon M. Alosco ◽  
Zuheir Awdeh ◽  
Rene J. Duquesnoy ◽  
Peter L. Page ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Extended Haplotypes

Urdu speaking population from South India: Six extended haplotypes in linkage disequilibrium in Urdu Speaking Population

HLA ◽  
2018 ◽  
Vol 92 (4) ◽  
pp. 266-268
Author(s):  
V. Seshasubramanian ◽  
N. K. Manisekar ◽  
A. D. Sathishkannan ◽  
C. Naganathan ◽  
Y. Nandakumar ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
South India ◽  
Extended Haplotypes

scholarly journals Extended haplotypes and linkage disequilibrium in the IL1R1–IL1A–IL1B–IL1RN gene cluster: association with knee osteoarthritis

2004 ◽  
Vol 5 (6) ◽  
pp. 451-460 ◽  
Author(s):  
A J P Smith ◽  
L J Keen ◽  
M J Billingham ◽  
M J Perry ◽  
C J Elson ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Knee Osteoarthritis ◽  
Gene Cluster ◽  
Extended Haplotypes

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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