Genetics Articles

News and Views: Infectious diseases not immune to genome-wide association

Two genome-wide association studies for meningococcal disease and tuberculosis identify new loci associated with susceptibility to these infectious diseases. They highlight a role for the acquired and innate immune systems in host control of several human pathogens and demonstrate that denser genotyping platforms and population-specific reference panels are necessary for genetic studies in African populations.

Nature Genetics, vol. 42 #9, pp731-732

News and Views: Putting a finger on the switch

The transition from fetal to adult ?-like globin expression is a key step in the maturation of the red blood cell lineage. Two new studies show that the KLF1 zinc finger protein uses direct and indirect means to regulate the final switch from fetal to adult globin expression and that monoallelic loss of KLF1 expression leads to persistence of fetal hemoglobin.

Nature Genetics, vol. 42 #9, pp733-734

News and Views: Variable evolutionary signatures at the heart of enhancers

What is the best way to identify regulatory DNA sequences such as enhancers, promoters, insulators and silencers? A new study shows that specific binding by a coactivator protein identifies enhancers that are invisible to common detection methods based on evolutionary constraint.

Nature Genetics, vol. 42 #9, pp734-735

Letter: Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population

Hidewaki Nakagawa and colleagues report a genome-wide association study for prostate cancer in a Japanese population. They replicate previously associated loci and identify five new susceptibility loci.

Nature Genetics, vol. 42 #9, pp751-754

Letter: Genome-wide association study identifies 1p36.22 as a new susceptibility locus for hepatocellular carcinoma in chronic hepatitis B virus carriers

Gangqiao Zhou and colleagues report a genome-wide association study for hepatocellular carcinoma in chronic hepatitis B virus carriers, identifying a new susceptibility locus at chromosome 1p36.22.

Nature Genetics, vol. 42 #9, pp755-758

Letter: Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54

Li Dong Wang and colleagues report a genome wide association study for esophageal squamous cell carcinoma in the Chinese population. They identify two risk loci at PLCE1 and C20orf54.

Nature Genetics, vol. 42 #9, pp759-763

Letter: A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma

Christian Abnet and colleagues report genome-wide association studies for gastric adenocarcinoma and esophageal squamous cell carcinoma in a Chinese population. They identified a new shared risk locus in the PLCE1 gene at 10q23.

Nature Genetics, vol. 42 #9, pp764-767

Letter: A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population

Yusuke Nakamura and colleagues report a genome-wide association study of keloid, a dermal fibroproliferative growth, in the Japanese population. Their work identifies common variants at four loci associated with susceptibility to keloid formation.

Nature Genetics, vol. 42 #9, pp768-771

Letter: Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease

Sonia Davila and colleagues report a genome-wide association study for meningococcal disease. They identify variants in the CFH region associated with susceptibility to meningococcal disease.

Nature Genetics, vol. 42 #9, pp772-776

Letter: Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency

Lennart Hammarstrm, Tim Behrens and colleagues report the results of a genome wide association study of selective immunoglobulin A deficiency, the most common form of primary immunodeficiency in humans. They validated previously known HLA haplotype associations and identified a new risk variant in IFIH1.

Nature Genetics, vol. 42 #9, pp777-780

Letter: Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease

Haydeh Payami and colleagues report results of a genome-wide association study for Parkinson's disease. They identify common variants in the HLA region associated with the late-onset sporadic form of the disease and replicate published associations with SNCA, MAPT and GAK.

Nature Genetics, vol. 42 #9, pp781-785

Letter: Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy

Mehdi Tafti and colleagues identify new HLA class II haplotypes that are strongly protective against narcolepsy. Their analyses suggest a virtually causal role for the HLA region in determining narcolepsy susceptibility.

Nature Genetics, vol. 42 #9, pp786-789

Letter: Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Jay Shendure and colleagues report exome sequencing of ten individuals with Kabuki syndrome. They identify mutations in MLL2, encoding a Trithorax-group histone methyltransferase, as causal for this rare autosomal dominant malformation disorder.

Nature Genetics, vol. 42 #9, pp790-793

Letter: Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

Charlotte Niemeyer, Mignon Loh and colleagues report that germline mutations at CBL are associated with developmental abnormalities and predispose individuals to juvenile myelomonocytic leukemia.

Nature Genetics, vol. 42 #9, pp794-800

Letter: Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin

Sjaak Philipsen and colleagues report that haploinsufficiency for KLF1 causes hereditary persistence of fetal hemoglobin in a large Maltese family. They further show that KLF1 is a key activator of BCL11A, which suppresses the expression of fetal hemoglobin.

Nature Genetics, vol. 42 #9, pp801-805

Letter: ChIP-Seq identification of weakly conserved heart enhancers

Len Pennacchio and colleagues used ChIP-Seq with the enhancer-associated protein p300 to identify 3,000 candidate cardiac transcriptional enhancers in embryonic mice at E11.5. Notably, most candidate heart enhancers at this time point are not deeply evolutionarily conserved.

Nature Genetics, vol. 42 #9, pp806-810



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