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Nature Papers Examine Genetics of Height Among Peruvians, Genetics of Sex-Biased Disease Susceptibility, More

A genome-wide association study appearing in Nature this week reveals the genetic mechanisms contributing to the short height of Peruvians. A team led by Harvard Medical School scientists analyzed the genetics and heights of 3,134 individuals from Lima, Peru to identify a population-specific, missense variant in the FBN1 gene that is significantly associated with lower height. FBN1 encodes the extracellular matrix protein fibrillin 1, a major structural component of microfibrils, and the variant was found to reduce height by around 2.2 centimeters per allele, according to the study's authors. Additional investigation shows that the variant is significantly more frequent in coastal Peruvian populations and may be linked to adaptation to factors associated with the country's coastal environment. GenomeWeb has more on this, here.

A review of the use of genetics in social science, which focuses on the links between genetic differences and differences in behaviors and socioeconomic outcomes, is presented in Nature Human Behavior this week. Investigators from the University of Texas at Austin and Vrije Universiteit Amsterdam examine the goals, methods, challenges and implications of social science genetics, highlight recent technological developments being used by social scientists, and discuss the ethical issues facing the field, as well as misconceptions regarding genetic research into individual differences.

A study into the genetic basis of sex-biased vulnerability to three diverse disorders — systemic lupus erythematosus (SLE) and Sjögren's syndrome, which affect women more than men, and schizophrenia, which affects men more than women — is published in Nature this week. Using whole-genome sequencing and other data, a Harvard Medical School-led group of researchers show that variation of the complement component 4 (C4) genes C4A and C4B, which have been linked to increased risk for schizophrenia, are associated with variation in risk for both SLE and Sjögren's syndrome. In all three illnesses, C4 alleles act more strongly in men than in women, and at the protein level, both C4 and its effector C3 were present at higher levels in cerebrospinal fluid and plasma in male adults versus female adults. "These results implicate the complement system as a source of sexual dimorphism in vulnerability to diverse illnesses," the researchers write.

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.