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SNPs, microarrays and pooled DNA: identification of four loci associated with mild mental impairment in a sample of 6000 children

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SNPs, microarrays and pooled DNA : identification of four loci associated with mild mental impairment in a sample of 6000 children. / Butcher, Lee M.; Meaburn, Emma; Knight, Jo; Sham, Pak C.; Schalkwyk, Leonard C.; Craig, Ian W.; Plomin, Robert.

In: Human Molecular Genetics, Vol. 14, No. 10, 15.05.2005, p. 1315-1325.

Research output: Contribution to journalJournal articlepeer-review

Harvard

Butcher, LM, Meaburn, E, Knight, J, Sham, PC, Schalkwyk, LC, Craig, IW & Plomin, R 2005, 'SNPs, microarrays and pooled DNA: identification of four loci associated with mild mental impairment in a sample of 6000 children', Human Molecular Genetics, vol. 14, no. 10, pp. 1315-1325. https://doi.org/10.1093/hmg/ddi142

APA

Butcher, L. M., Meaburn, E., Knight, J., Sham, P. C., Schalkwyk, L. C., Craig, I. W., & Plomin, R. (2005). SNPs, microarrays and pooled DNA: identification of four loci associated with mild mental impairment in a sample of 6000 children. Human Molecular Genetics, 14(10), 1315-1325. https://doi.org/10.1093/hmg/ddi142

Vancouver

Butcher LM, Meaburn E, Knight J, Sham PC, Schalkwyk LC, Craig IW et al. SNPs, microarrays and pooled DNA: identification of four loci associated with mild mental impairment in a sample of 6000 children. Human Molecular Genetics. 2005 May 15;14(10):1315-1325. https://doi.org/10.1093/hmg/ddi142

Author

Butcher, Lee M. ; Meaburn, Emma ; Knight, Jo ; Sham, Pak C. ; Schalkwyk, Leonard C. ; Craig, Ian W. ; Plomin, Robert. / SNPs, microarrays and pooled DNA : identification of four loci associated with mild mental impairment in a sample of 6000 children. In: Human Molecular Genetics. 2005 ; Vol. 14, No. 10. pp. 1315-1325.

Bibtex

@article{fde40df151ab43b4a74f78d74d0e4ebb,
title = "SNPs, microarrays and pooled DNA: identification of four loci associated with mild mental impairment in a sample of 6000 children",
abstract = "Mild mental impairment (MMI) represents the low extreme of the quantitative trait of general intelligence and is highly heritable. Quantitative trait loci (QTLs) conferring susceptibility to MMI, as for most complex traits, are likely to be of small effect size. Using a novel approach we call SNP-MaP (SNP Microarrays and Pooling), we have identified four loci associated with MMI. These four loci have been replicated in two SNP-MaP studies and verified by individual genotyping. The two SNP-MaP studies conducted were a case versus control comparison (n = 515 and n = 1028, respectively) and a low versus high general intelligence extremes group comparison (n = 503 and n = 505, respectively). Each of the four groups consisted of five independent 'subpools', with each subpool assayed on a separate microarray. Twelve loci showing the largest significant differences in both SNP-MaP studies were individually genotyped on 6154 children. Of the four loci positively associated with MMI, the minor allele of each conferred the greater risk for MMI. Two of the loci are close to known genes and may be in linkage disequilibrium with them. One of the loci is between the candidate genes KLF7 and CREB1, but given possible long-range effects on expression and the unknown importance of untranslated elements such as micro-RNAs, all four loci deserve attention as candidates. Although each SNP accounts for a small amount of variance, their effects are additive and they can be combined in a 'SNP set' that can be used as a genetic risk index for MMI in behavioral genomic analyses.",
keywords = "Child, DNA, Genetic Markers, Humans, Intellectual Disability, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide",
author = "Butcher, {Lee M.} and Emma Meaburn and Jo Knight and Sham, {Pak C.} and Schalkwyk, {Leonard C.} and Craig, {Ian W.} and Robert Plomin",
year = "2005",
month = may,
day = "15",
doi = "10.1093/hmg/ddi142",
language = "English",
volume = "14",
pages = "1315--1325",
journal = "Human Molecular Genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "10",

}

RIS

TY - JOUR

T1 - SNPs, microarrays and pooled DNA

T2 - identification of four loci associated with mild mental impairment in a sample of 6000 children

AU - Butcher, Lee M.

AU - Meaburn, Emma

AU - Knight, Jo

AU - Sham, Pak C.

AU - Schalkwyk, Leonard C.

AU - Craig, Ian W.

AU - Plomin, Robert

PY - 2005/5/15

Y1 - 2005/5/15

N2 - Mild mental impairment (MMI) represents the low extreme of the quantitative trait of general intelligence and is highly heritable. Quantitative trait loci (QTLs) conferring susceptibility to MMI, as for most complex traits, are likely to be of small effect size. Using a novel approach we call SNP-MaP (SNP Microarrays and Pooling), we have identified four loci associated with MMI. These four loci have been replicated in two SNP-MaP studies and verified by individual genotyping. The two SNP-MaP studies conducted were a case versus control comparison (n = 515 and n = 1028, respectively) and a low versus high general intelligence extremes group comparison (n = 503 and n = 505, respectively). Each of the four groups consisted of five independent 'subpools', with each subpool assayed on a separate microarray. Twelve loci showing the largest significant differences in both SNP-MaP studies were individually genotyped on 6154 children. Of the four loci positively associated with MMI, the minor allele of each conferred the greater risk for MMI. Two of the loci are close to known genes and may be in linkage disequilibrium with them. One of the loci is between the candidate genes KLF7 and CREB1, but given possible long-range effects on expression and the unknown importance of untranslated elements such as micro-RNAs, all four loci deserve attention as candidates. Although each SNP accounts for a small amount of variance, their effects are additive and they can be combined in a 'SNP set' that can be used as a genetic risk index for MMI in behavioral genomic analyses.

AB - Mild mental impairment (MMI) represents the low extreme of the quantitative trait of general intelligence and is highly heritable. Quantitative trait loci (QTLs) conferring susceptibility to MMI, as for most complex traits, are likely to be of small effect size. Using a novel approach we call SNP-MaP (SNP Microarrays and Pooling), we have identified four loci associated with MMI. These four loci have been replicated in two SNP-MaP studies and verified by individual genotyping. The two SNP-MaP studies conducted were a case versus control comparison (n = 515 and n = 1028, respectively) and a low versus high general intelligence extremes group comparison (n = 503 and n = 505, respectively). Each of the four groups consisted of five independent 'subpools', with each subpool assayed on a separate microarray. Twelve loci showing the largest significant differences in both SNP-MaP studies were individually genotyped on 6154 children. Of the four loci positively associated with MMI, the minor allele of each conferred the greater risk for MMI. Two of the loci are close to known genes and may be in linkage disequilibrium with them. One of the loci is between the candidate genes KLF7 and CREB1, but given possible long-range effects on expression and the unknown importance of untranslated elements such as micro-RNAs, all four loci deserve attention as candidates. Although each SNP accounts for a small amount of variance, their effects are additive and they can be combined in a 'SNP set' that can be used as a genetic risk index for MMI in behavioral genomic analyses.

KW - Child

KW - DNA

KW - Genetic Markers

KW - Humans

KW - Intellectual Disability

KW - Oligonucleotide Array Sequence Analysis

KW - Polymorphism, Single Nucleotide

U2 - 10.1093/hmg/ddi142

DO - 10.1093/hmg/ddi142

M3 - Journal article

C2 - 15800012

VL - 14

SP - 1315

EP - 1325

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 10

ER -