Application of a rank-based genetic association test to age-at-onset data from the Collaborative Study on the Genetics of Alcoholism study.
Repository Usage Stats
Association studies of quantitative traits have often relied on methods in which a normal distribution of the trait is assumed. However, quantitative phenotypes from complex human diseases are often censored, highly skewed, or contaminated with outlying values. We recently developed a rank-based association method that takes into account censoring and makes no distributional assumptions about the trait. In this study, we applied our new method to age-at-onset data on ALDX1 and ALDX2. Both traits are highly skewed (skewness > 1.9) and often censored. We performed a whole genome association study of age at onset of the ALDX1 trait using Illumina single-nucleotide polymorphisms. Only slightly more than 5% of markers were significant. However, we identified two regions on chromosomes 14 and 15, which each have at least four significant markers clustering together. These two regions may harbor genes that regulate age at onset of ALDX1 and ALDX2. Future fine mapping of these two regions with densely spaced markers is warranted.
Age of Onset
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 15
Genetic Predisposition to Disease
Published Version (Please cite this version)10.1186/1471-2156-6-S1-S53
Publication InfoLi, YJ; Martin, ER; Zhang, L; & Allen, AS (2005). Application of a rank-based genetic association test to age-at-onset data from the Collaborative Study on the Genetics of Alcoholism study. BMC Genet, 6 Suppl 1. pp. S53. 10.1186/1471-2156-6-S1-S53. Retrieved from http://hdl.handle.net/10161/10631.
This is constructed from limited available data and may be imprecise. To cite this article, please review & use the official citation provided by the journal.
More InfoShow full item record
Showing items related by title, author, creator, and subject.
The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia. Chou, JY; Koeberl, Dwight D; Lee, YM; Mansfield, BC; Pan, CJ (Mol Genet Metab, 2013-11)Glycogen storage disease type-Ia (GSD-Ia) patients deficient in glucose-6-phosphatase-α (G6Pase-α or G6PC) manifest impaired glucose homeostasis characterized by fasting hypoglycemia, growth retardation, hepatomegaly, ...
How the effects of aging and stresses of life are integrated in mortality rates: insights for genetic studies of human health and longevity. Akushevich, Igor; Arbeev, Konstantin; Arbeeva, LS; Culminskaya, IV; Kovtun, Mikhail; Kulminski, Alexander; Li, M; ... (12 authors) (Biogerontology, 2016-02)Increasing proportions of elderly individuals in developed countries combined with substantial increases in related medical expenditures make the improvement of the health of the elderly a high priority today. If the process ...
Puzzling role of genetic risk factors in human longevity: "risk alleles" as pro-longevity variants. Akushevich, Igor; Arbeev, Konstantin; Joshi, G; Kulminski, Alexander; Land, Kenneth C; Stallard, Eric; Ukraintseva, Svetlana; ... (9 authors) (Biogerontology, 2016-02)Complex diseases are major contributors to human mortality in old age. Paradoxically, many genetic variants that have been associated with increased risks of such diseases are found in genomes of long-lived people, and do ...