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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

Team Tracks Down Potential Blood Plasma Markers Linked to Heart Failure in Atrial Fibrillation Patients

Researchers in BMC Genomics found 10 differentially expressed proteins or metabolites that marked atrial fibrillation with heart failure cases.

Study Points to Synonymous Mutation Effects on E. Coli Enzyme Activity

Researchers in Nature Chemistry saw signs of enzyme activity shifts in the presence of synonymous mutations in a multiscale modeling analysis of three Escherichia coli genes.

Team Outlines Paternal Sample-Free Single-Gene Approach for Non-Invasive Prenatal Screening

With data for nearly 9,200 pregnant individuals, researchers in Genetics in Medicine demonstrate the feasibility of their carrier screening and reflex single-gene non-invasive prenatal screening approach.

Germline-Targeting HIV Vaccine Shows Promise in Phase I Trial

A National Institutes of Health-led team reports in Science that a broadly neutralizing antibody HIV vaccine induced bnAb precursors in 97 percent of those given the vaccine.