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GWAS of adiponectin levels
19 Jul 2011
Chung et al performed a GWAS of adiponectin levels in 382 subjects with young-onset hypertension using Illumina's HumanHap550. SNP rs4783244 in CDH13 was associated with plamsa adiponectin levels in both discovery and replication. The SNP also associated with risk of MS, T2DM and ischemic stroke in the CardioVascular Disease risk FACtors Two-township Study. Published in Diabetes

GWAS of Hepatitis B vaccine response in an Indonesian population
15 Jul 2011
Png et al performed a two-stage GWAS of antibody titre in 3614 Indonesian recipients of Hep B vaccine. They report three independent signals within the HLA region, potentially implicating HLA-DR, HLA-DP and a gene rich HLA Class III interval. Published in Human Molecular Genetics

Next generation sequence analysis of autosomal dominant chronic mucocutaneous candidiasis (CMC)
7 Jul 2011
van de Veerdonk et al use NGS to identify mutations in 14 people from 5 families with CMC (autosomal dominant). 100 genes were targeted using an array-based capture approach followed by NGS. Heterozygous missense mutations were identified in the coiled-coil domain of STAT1, which are believed to lead to defective Th1 and Th17 responses, and a consequent increased susceptibility to fungal infection. Published in New England Journal of Medicine

GWAS of postoperative nausea and vomiting
01 Jul 2011
Janicki et al report a genome-wide association study of postoperative nausea and vomiting using pooled DNA. 122 patients were pooled, as were 129 matched controls, and allele frequencies in the pools determined using microarray probe intensity. Individual level genotyping was performed on top hits, and of 19 loci one SNP (near CHRM3) replicated successfully. Published in Anesthesiology

GWAS of migraine
12 Jun 2011
Chasman et al report a GWAS of migraine in a sample of 5122 cases and 18108 controls. Loci associated with migraine include: 1p36.32 (rs2651899, PRDM16), 2q37.1 (rs10166942, TRPM8) and 12q13.3 (rs11172113, LRP1). The first two of these were specific for migraine (rather than non-migraine) headache. Published in Nature Genetics

GWAS of atopic dermatitis in Chinese Han
12 Jun 2011
Sun et al report a GWAS of atopic dermatitis in a Chinese Han sample. They identify associated loci at 5q22.1 (TMEM232, SLC25A46) and 20q13.33 (TNFRSF6B, ZGPAT) and replicated a previously reported locus at 1q21.3 (FLG). Published in Nature Genetics

Australian GWAS of educational attainment
09 Jun 2011
Martin et al report on a genome-wide association study of educational attainment (EA) and IQ. In a large discovery sample (n=9538) they found no association above their genome-wide significance threshold, which they suggest points to a highly polygenic basis of EA. Replication of the top 50 hits yielded one (on 11q14.1) associated with EA, but they conclude that this requires further replication. Published in PLoS One

GWAS of chronic myeloid leukemia
3 May 2011
Kim et al report association with chronic myeloid leukemia at loci in 6q25.1 and 17p11.1. They list candidate genes RMND1, AKAP12, ZBTB2, and WSB1 at those two loci. Published in Blood

GWAS of open-angle glaucoma blindness
1 May 2011
Burdon et al report a GWAS for open-angle glaucoma blindness with associated loci including TMCO1 and CDKN2B-AS1. They also report that CDKN2A and CDKN2B expression are upregulated in retina of rat glaucoma model. Published in Nature Genetics

GWAS of bone mineral density phenotypes
21 Apr 2011
Duncan et al report a GWAS of bone mineral density. They replicate 21 of 26 previously reported BMD hits and highlight "suggestive association" near several other genes (CLCN7, GALNT3, IBSP, LTBP3, RSPO3, and SOX4). Published in PLoS Genetics

INHANCE GWAS of upper aerodigestive tract cancers
17 Mar 2011
The INHANCE consortium present results of a genome-wide association study of upper aerodigestive tract cancers in Europeans. The authors describe two novel variants, one near HEL308/FAM175A (DNA repair related) and one near ALDH2. Previously reported variants in the ADH gene cluster were replicated in this study. Published in PLoS Genetics

C4D GWAS of CAD in Europeans and South Asians
06 Mar 2011
The Coronary Artery Disease "C4D" Genetics consortium present results of a genome-wide association study of coronary artery disease in Europeans and South Asians. The authors describe five new candidate CAD loci in this publication: LIPA, PDGFD, ADAMTS7-MORF4L1, a locus on 7q22 (many genes) and KIAA1462. Published in Nature Genet

NHLBI CARe GWAS of CHD in African Americans
28 Feb 2011
The NHLBI CARe consortium present results of a genome-wide association study of coronary heart disease in African Americans. No associated loci were unique to African American populations, all having been described previously for other populations. At known CHD loci, the differing LD patterns between this population and others enabled identification of polymorphisms more strongly associated with phenotype than those previously reported. Published in PLoS Genet

Loci associated with circulating IGF-I and IGFBP-3
13 Jan 2011
Kaplan et al present results of a genome-wide association study of circulating IGF-I and IGFBP-3 levels. SNPs in the IGFBP3 gene region associate with both IGFBP-3 and IGF-I levels. Other loci include SNPs near SORCS2 and SNPs near IGFALS. Published in Hum Mol Genet

C-reative protein GWAS identifies pleiotropic associations in IL6
31 Dec 2010
Okada et al analyse the role of IL6 in inflammation and the regulation of serum C-reactive protein levels. Published in Hum Mol Genet

Endometriosis GWAS
12 Dec 2010
Painter et al identify a locus at 7p15.2 associated with endometriosis. Published in Nat Genet

Genomic variants enriched in non-tumor cells of tumour patients
07 Dec 2010
Walsh et al use a genome-wide approach to identify copy number variants at differential levels in non-tumor cells of patients with neuroendocrine tumors. Published in Endocr Relat Cancer

Two new susceptibility loci for renal cell carcinoma
05 Dec 2010
Purdue et al use a genome-wide association approach to identify susceptibility loci near EPAS1 (chromosome 2p21) and intergenic on 11q13.3. Published in Nat Genet

Chronic lymphocytic leukemia (CLL) susceptibility locus
03 Dec 2010
Slager et al identify a new suceptibility locus for familial CLL at 6p21.3 near the HLA-DQA1 and HLA-DRB5 genes. Published in Blood