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Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations.
Ober C, Leavitt SA, Tsalenko A, Howard TD, Hoki DM, Daniel R, Newman DL, Wu X, Parry R, Lester LA, Solway J, Blumenthal M, King RA, Xu J, Meyers DA, Bleecker ER, Cox NJ
(2000) Am J Hum Genet 66: 517-26
MeSH Terms: Alleles, Asthma, Child, Christianity, Chromosomes, Human, Pair 16, DNA Mutational Analysis, Ethnic Groups, Family Health, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Variation, Haplotypes, Humans, Hypersensitivity, Immediate, Linkage Disequilibrium, Male, Molecular Sequence Data, Phenotype, Polymorphism, Single Nucleotide, Receptors, Interleukin-4, United States
Show Abstract · Added February 22, 2016
After a genomewide screen in the Hutterites was completed, the IL4RA gene was examined as the 16p-linked susceptibility locus for asthma and atopy. Seven known variants and one novel variant, representing all nonsynonymous substitutions in the mature protein, were examined in the Hutterites; on the basis of studies in the Hutterites, outbred white, black, and Hispanic families were genotyped for selected markers. All population samples showed evidence of association to atopy or to asthma (P values.039-.0044 for atopy and. 029-.0000061 for asthma), but the alleles or haplotypes showing the strongest evidence differed between the groups. Overall, these data suggest that the IL4RA gene is an atopy- and asthma-susceptibility locus but that variation outside the coding region of the gene influences susceptibility.
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22 MeSH Terms
Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population.
Crawford DC, Schwartz CE, Meadows KL, Newman JL, Taft LF, Gunter C, Brown WT, Carpenter NJ, Howard-Peebles PN, Monaghan KG, Nolin SL, Reiss AL, Feldman GL, Rohlfs EM, Warren ST, Sherman SL
(2000) Am J Hum Genet 66: 480-93
MeSH Terms: African Americans, African Continental Ancestry Group, Alleles, Child, European Continental Ancestry Group, Fragile X Syndrome, Gene Frequency, Genetic Linkage, Genetic Markers, Genetic Testing, Haplotypes, Heterozygote, Humans, Male, Mutagenesis, Polymorphism, Single Nucleotide, Tandem Repeat Sequences, Trinucleotide Repeat Expansion, United States
Show Abstract · Added December 10, 2013
Previous studies have shown that specific short-tandem-repeat (STR) and single-nucleotide-polymorphism (SNP)-based haplotypes within and among unaffected and fragile X white populations are found to be associated with specific CGG-repeat patterns. It has been hypothesized that these associations result from different mutational mechanisms, possibly influenced by the CGG structure and/or cis-acting factors. Alternatively, haplotype associations may result from the long mutational history of increasing instability. To understand the basis of the mutational process, we examined the CGG-repeat size, three flanking STR markers (DXS548-FRAXAC1-FRAXAC2), and one SNP (ATL1) spanning 150 kb around the CGG repeat in unaffected (n=637) and fragile X (n=63) African American populations and compared them with unaffected (n=721) and fragile X (n=102) white populations. Several important differences were found between the two ethnic groups. First, in contrast to that seen in the white population, no associations were observed among the African American intermediate or "predisposed" alleles (41-60 repeats). Second, two previously undescribed haplotypes accounted for the majority of the African American fragile X population. Third, a putative "protective" haplotype was not found among African Americans, whereas it was found among whites. Fourth, in contrast to that seen in whites, the SNP ATL1 was in linkage equilibrium among African Americans, and it did not add new information to the STR haplotypes. These data indicate that the STR- and SNP-based haplotype associations identified in whites probably reflect the mutational history of the expansion, rather than a mutational mechanism or pathway.
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19 MeSH Terms