Dataset Information

Genetic Studies in the Hutterites

ABSTRACT:

We conducted genome wide association studies (GWAS) of disease-associated quantitative phenotypes in the Hutterites, a founder population of European descent. The Hutterites in our studies live on communal farms in South Dakota and are related to each other through multiple lines of descent in a 3,657-person, 13-generation pedigree with 64 founders. The small number of founding genomes reduces genetic heterogeneity whereas their communal lifestyle ensures that non-genetic factors are remarkably uniform between individuals. During our Phase 1 studies, between 1996 and 1997, we measured qualitative and quantitative phenotypes that are associated with common diseases in ~750 individuals living in 9 Hutterite colonies. These individuals were genotyped using the Affymetrix 500k array. The SNPs included in our GWAS had >90% call rates, minor allele frequencies >5%, Hardy-Weinberg p-values >0.001 (corrected for Hutterite population structure), and fewer than 5 Mendelian errors. During our Phase 2 studies, between 2006 and 2009, we phenotyped ~900 individuals living in 9 Hutterite colonies (7 overlapping with Phase 1 colonies). The Phase 2 individuals were genotyped with the Affymetrix 5.0 or 6.0 array. The SNPs included in the GWAS had >95% call rates, minor allele frequencies >5%, Hardy-Weinberg p-values >0.001 (corrected for Hutterite population structure), and fewer than 5 Mendelian errors. The combined Phase 1 and Phase 2 sample includes 1264 unique individuals; ~ 400 individuals participated in both Phase 1 and 2 studies. These 1264 individuals are the subjects of ongoing and future studies.

PROVIDER: phs000185.v1.p1 | EGA |

REPOSITORIES: EGA

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Publications

Quantitative-trait homozygosity and association mapping and empirical genomewide significance in large, complex pedigrees: fasting serum-insulin level in the Hutterites.

Abney Mark M Ober Carole C McPeek Mary Sara MS

American journal of human genetics 20020304 4

We present methods for linkage and association mapping of quantitative traits for a founder population with a large, known genealogy. We detect linkage to quantitative-trait loci (QTLs) through a multipoint homozygosity-mapping method. We propose two association methods, one of which is single point and uses a general two-allele model and the other of which is multipoint and uses homozygosity by descent for a particular allele. In all three methods, we make extensive use of the pedigree and geno ...[more]

PMID: 11880950

Publication: 1/7

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Dataset Information

Genetic Studies in the Hutterites

Publications

Quantitative-trait homozygosity and association mapping and empirical genomewide significance in large, complex pedigrees: fasting serum-insulin level in the Hutterites.

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