scholarly journals Further evidence for a major ancient mutation underlying myotonic dystrophy from linkage disequilibrium studies in the Japanese population

1998 ◽  
Vol 43 (4) ◽  
pp. 246-249 ◽  
Author(s):  
H. Yamagata ◽  
Masanori Nakagawa ◽  
Keith Johnson ◽  
Tetsuro Miki
Keyword(s):  
Linkage Disequilibrium ◽  
Myotonic Dystrophy ◽  
Japanese Population ◽  
Ancient Mutation

A chromosome 19 clone from a translocation breakpoint shows close linkage and linkage disequilibrium with myotonic dystrophy

Genomics ◽  
1989 ◽  
Vol 4 (2) ◽  
pp. 146-151 ◽  
Author(s):  
R.G. Korneluk ◽  
H.L. MacLeod ◽  
T.W. McKeithan ◽  
J.D. Brooks ◽  
A.E. MacKenzie
Keyword(s):  
Linkage Disequilibrium ◽  
Myotonic Dystrophy ◽  
Translocation Breakpoint ◽  
Close Linkage ◽  
Chromosome 19

scholarly journals Myotonic dystrophy type 2 is rare in the Japanese population

2012 ◽  
Vol 57 (3) ◽  
pp. 219-220 ◽  
Author(s):  
Tohru Matsuura ◽  
Narihiro Minami ◽  
Hajime Arahata ◽  
Kinji Ohno ◽  
Koji Abe ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Japanese Population ◽  
Myotonic Dystrophy Type ◽  
Myotonic Dystrophy Type 2

Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population

1992 ◽  
Vol 89 (3) ◽  
Author(s):  
Anna Cobo ◽  
Daniel Grinberg ◽  
Susana Balcells ◽  
Llu�sa Vilageliu ◽  
Roser Gonz�lez-Duarte ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Myotonic Dystrophy ◽  
Spanish Population ◽  
Anonymous Marker

Genome-wide association study of plasma resistin levels identified rs1423096 and rs10401670 as possible functional variants in the Japanese population

2016 ◽  
Vol 48 (11) ◽  
pp. 874-881 ◽  
Author(s):  
Ryoichi Kawamura ◽  
Yasuharu Tabara ◽  
Akiko Tsukada ◽  
Michiya Igase ◽  
Jun Ohashi ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Association Study ◽  
Japanese Population ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Luciferase Reporter ◽  
Strong Linkage Disequilibrium ◽  
Functional Variants ◽  
Genome Wide ◽  
A Genome

Resistin is a cytokine inducing insulin resistance in mice. We previously identified single nucleotide polymorphisms (SNPs) at −420 (rs1862513) and −358 (rs3219175) located in the human resistin gene ( RETN) promoter as strong determinants for circulating resistin in the Japanese population. The objective was to identify additional functional variants for circulating resistin. We conducted a genome-wide association study in 448 Japanese subjects. A peak association signal was found on chromosome 19 where RETN is located. The top-hit SNP was SNP −358 G>A, followed by rs1423096 C>T, SNP −420 C>G, and rs10401670 C>T ( P = 5.39×10−47, 1.81×10−22, 2.09×10−16, and 9.25×10−15, respectively). Meta-analysis including another two independent general Japanese populations showed that circulating resistin was most strongly associated with SNP-358, followed by SNP-420, rs1423096, and rs10401670. Rs1423096 and rs10401670 were located in the 3′-region of RETN and were in strong linkage disequilibrium. Although these SNPs were also in linkage disequilibrium with the promoter SNPs, conditional and haplotype association analyses identified rs1423096 and rs10401670 as independent determinants for circulating resistin. Functionally, nuclear proteins specifically recognized T but not C at rs10401670 as evidenced by an electrophoretic mobility shift assay. The promoter activity of a luciferase reporter with T at either rs1423096 or rs10401670 was lower than that with C in THP-1 human monocytes. Therefore, rs1423096 and rs10401670, in addition to SNP-420 and SNP-358, were identified as possible functional variants affecting circulating resistin by the genome-wide search in the Japanese population.

scholarly journals French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion.

1994 ◽  
Vol 31 (1) ◽  
pp. 33-36 ◽  
Author(s):  
C Lavedan ◽  
H Hofmann-Radvanyi ◽  
C Boileau ◽  
C Bonaiti-Pellie ◽  
D Savoy ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Myotonic Dystrophy ◽  
Complete Linkage Disequilibrium ◽  
Complete Linkage ◽  
Ctg Repeat

scholarly journals Rapid Pyrosequencing Method for FMO3 Non-Synonymous Genetic Variant Evaluation in A Korean Population

2021 ◽  
Author(s):  
Jin-woo Park ◽  
In-Hwan Park ◽  
Jong-Min Kim ◽  
Kyoung-Ah Kim ◽  
Ji-Young Park
Keyword(s):  
Linkage Disequilibrium ◽  
Single Nucleotide Polymorphisms ◽  
Ethnic Differences ◽  
Japanese Population ◽  
Genetic Variant ◽  
Allele Frequencies ◽  
Korean Population ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Pyrosequencing Method

Abstract Background: The aim of this study was to develop a feasible pyrosequencing method to detect non-synonymous single nucleotide polymorphisms (SNPs) of the flavin-containing monooxygenase 3 (FMO3) gene and compare the ethnic differences in the frequencies of these alleles. Methods and Results: This pyrosequencing method was used to identify four non-synonymous FMO3 SNPs, including c.855C>T (rs909530), c.441C>T (rs1800822), c.923A>G (rs2266782), and c.472G>A (rs2266782). The allele frequencies of these SNPs in 122 unrelated Korean subjects were analyzed, and were as follows: 44.7% for c.855C>T, 23.4% for c.441C>T, 23.0% for c.923A>G, and 27.1% for c.472G>A. Linkage disequilibrium (LD) analysis showed that c.923A>G and c.472G>A were in strong LD (D′ = 0.8289, r2 = 0.5332). Conclusions: The designed pyrosequencing method was successfully applied to identify the c.855C>T, c.441C>T, c.923A>G, and c.472G>A SNPs. The frequencies were similar to those reported previously in a Japanese population. However, in general, large differences between ethnicities were found.

Sign in / Sign up

Export Citation Format

Share Document