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Title: Genome-wide haplotypic testing in a Finnish cohort identifies a novel association with low-density lipoprotein cholesterol.

Authors: Zhang, Qian S; Browning, Brian L; Browning, Sharon R

Published In Eur J Hum Genet, (2015 May)

Abstract: We performed genome-wide tests for association between haplotype clusters and each of 9 metabolic traits in a cohort of 5402 Northern Finnish individuals genotyped for 330 000 single-nucleotide polymorphisms. The metabolic traits were body mass index, C-reactive protein, diastolic blood pressure, glucose, high-density lipoprotein (HDL), insulin, low-density lipoprotein (LDL), systolic blood pressure, and triglycerides. Haplotype clusters were determined using Beagle. There were LDL-associated clusters in the chromosome 4q13.3-q21.1 region containing the albumin (ALB) and platelet factor 4 (PF4) genes. This region has not been associated with LDL in previous genome-wide association studies. The most significant haplotype cluster in this region was associated with 0.488 mmol/l higher LDL (95% CI: 0.361-0.615 mmol/l, P-value: 6.4 × 10(-14)). We also observed three previously reported associations: Chromosome 16q13 with HDL, chromosome 1p32.3-p32.2 with LDL and chromosome 19q13.31-q13.32 with LDL. The chromosome 1 and chromosome 4 LDL associations do not reach genome-wide significance in single-marker analyses of these data, illustrating the power of haplotypic association testing.

PubMed ID: 24896150 Exiting the NIEHS site

MeSH Terms: Adult; Cholesterol, LDL/blood*; Chromosome Mapping; Chromosomes, Human; Cohort Studies; Female; Finland; Genetic Association Studies*; Genome-Wide Association Study*; Haplotypes*; Humans; Male; Middle Aged; Polymorphism, Single Nucleotide*; Quantitative Trait, Heritable

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