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• W2138920912 abstract "Autism Spectrum Disorders (ASD) are phenotypically heterogeneous, characterized by impairments in the development of communication and social behaviour and the presence of repetitive behaviour and restricted interests. Dissecting the genetic complexity of ASD may require phenotypic data reflecting more detail than is offered by a categorical clinical diagnosis. Such data are available from the Social Responsiveness Scale (SRS) which is a continuous, quantitative measure of social ability giving scores that range from significant impairment to above average ability.We present genome-wide results for 64 multiplex and extended families ranging from two to nine generations. SRS scores were available from 518 genotyped pedigree subjects, including affected and unaffected relatives. Genotypes from the Illumina 6 k single nucleotide polymorphism panel were provided by the Center for Inherited Disease Research. Quantitative and qualitative analyses were done using MCLINK, a software package that uses Markov chain Monte Carlo (MCMC) methods to perform multilocus linkage analysis on large extended pedigrees.When analysed as a qualitative trait, linkage occurred in the same locations as in our previous affected-only genome scan of these families, with findings on chromosomes 7q31.1-q32.3 [heterogeneity logarithm of the odds (HLOD) = 2.91], 15q13.3 (HLOD = 3.64), and 13q12.3 (HLOD = 2.23). Additional positive qualitative results were seen on chromosomes 6 and 10 in regions that may be of interest for other neuropsychiatric disorders. When analysed as a quantitative trait, results replicated a peak found in an independent sample using quantitative SRS scores on chromosome 11p15.1-p15.4 (HLOD = 2.77). Additional positive quantitative results were seen on chromosomes 7, 9, and 19.The SRS linkage peaks reported here substantially overlap with peaks found in our previous affected-only genome scan of clinical diagnosis. In addition, we replicated a previous SRS peak in an independent sample. These results suggest the SRS is a robust and useful phenotype measure for genetic linkage studies of ASD. Finally, analyses of SRS scores revealed linkage peaks overlapping with evidence from other studies of neuropsychiatric diseases. The information available from the SRS itself may, therefore, reveal locations for autism susceptibility genes that would not otherwise be detected." @default.
• W2138920912 created "2016-06-24" @default.
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• W2138920912 date "2010-01-01" @default.
• W2138920912 modified "2023-10-16" @default.
• W2138920912 title "Genome-wide linkage using the Social Responsiveness Scale in Utah autism pedigrees" @default.
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• W2138920912 cites W1490046998 @default.
• W2138920912 cites W1490360753 @default.
• W2138920912 cites W1536698053 @default.
• W2138920912 cites W1588132147 @default.
• W2138920912 cites W1627088906 @default.
• W2138920912 cites W1969952389 @default.
• W2138920912 cites W1970841625 @default.
• W2138920912 cites W1974652030 @default.
• W2138920912 cites W1976283472 @default.
• W2138920912 cites W1976741643 @default.
• W2138920912 cites W1980309199 @default.
• W2138920912 cites W1980704425 @default.
• W2138920912 cites W1981139906 @default.
• W2138920912 cites W1981845216 @default.
• W2138920912 cites W1981941378 @default.
• W2138920912 cites W1981968256 @default.
• W2138920912 cites W1982933961 @default.
• W2138920912 cites W1985173298 @default.
• W2138920912 cites W2000087362 @default.
• W2138920912 cites W2003982468 @default.
• W2138920912 cites W2007445044 @default.
• W2138920912 cites W2008486738 @default.
• W2138920912 cites W2010050730 @default.
• W2138920912 cites W2015631569 @default.
• W2138920912 cites W2017300489 @default.
• W2138920912 cites W2020127697 @default.
• W2138920912 cites W2027249547 @default.
• W2138920912 cites W2030147716 @default.
• W2138920912 cites W2030734666 @default.
• W2138920912 cites W2031827634 @default.
• W2138920912 cites W2046317441 @default.
• W2138920912 cites W2059716303 @default.
• W2138920912 cites W2060556870 @default.
• W2138920912 cites W2061397494 @default.
• W2138920912 cites W2068056222 @default.
• W2138920912 cites W2069464805 @default.
• W2138920912 cites W2079224328 @default.
• W2138920912 cites W2079743044 @default.
• W2138920912 cites W2080287250 @default.
• W2138920912 cites W2082011456 @default.
• W2138920912 cites W2082075709 @default.
• W2138920912 cites W2084620353 @default.
• W2138920912 cites W2084837328 @default.
• W2138920912 cites W2085272107 @default.
• W2138920912 cites W2089163546 @default.
• W2138920912 cites W2089221493 @default.
• W2138920912 cites W2089843122 @default.
• W2138920912 cites W2091151411 @default.
• W2138920912 cites W2097386588 @default.
• W2138920912 cites W2097595716 @default.
• W2138920912 cites W2098920619 @default.
• W2138920912 cites W2100221833 @default.
• W2138920912 cites W2102668384 @default.
• W2138920912 cites W2104743461 @default.
• W2138920912 cites W2113907173 @default.
• W2138920912 cites W2114928393 @default.
• W2138920912 cites W2115598737 @default.
• W2138920912 cites W2119907069 @default.
• W2138920912 cites W2122796918 @default.
• W2138920912 cites W2123739801 @default.
• W2138920912 cites W2126538155 @default.
• W2138920912 cites W2131009185 @default.
• W2138920912 cites W2133200426 @default.
• W2138920912 cites W2140573463 @default.
• W2138920912 cites W2144446993 @default.
• W2138920912 cites W2147024435 @default.
• W2138920912 cites W2148219730 @default.
• W2138920912 cites W2151566815 @default.
• W2138920912 cites W2157447287 @default.
• W2138920912 cites W2159152816 @default.
• W2138920912 cites W2161195806 @default.
• W2138920912 cites W2161633633 @default.
• W2138920912 cites W2166649563 @default.
• W2138920912 cites W2290802694 @default.
• W2138920912 cites W2327531414 @default.
• W2138920912 cites W2472145804 @default.
• W2138920912 cites W2597331575 @default.
• W2138920912 cites W576288626 @default.
• W2138920912 cites W7817628 @default.
• W2138920912 cites W2132292769 @default.
• W2138920912 doi "https://doi.org/10.1186/2040-2392-1-8" @default.
• W2138920912 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2913945" @default.
• W2138920912 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20678250" @default.
• W2138920912 hasPublicationYear "2010" @default.

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