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Ethnicity and the Genetics of Smoking Behavior

In a paper published online in advance in Translational Psychiatry, a team led by researchers at nonprofit institute SRI International shows in a GWAS meta-analysis that a non-coding SNP on chromosome 15q25.1 is associated with smoking quantity — as measured by cigarettes per day — in African Americans. In their paper, members of the Study of Tobacco in Minority Populations Genetics Consortium say that this variant "is present in the 5'-distal enhancer region of the CHRNA5 gene," and that additional, informative associations — at 15q25.1 within PSMA4, CHRNA5, and CHRNA3 — approached, but did not reach, genome-wide significance for smoking quantity. These additional SNPs "are associated with a second signal previously reported in studies in European ancestry populations," the team says.

Overall, the authors write, larger studies are needed to validate the suggestive loci "and further elucidate the contribution of genetic variation to disparities in cigarette consumption, SC [smoking cessation], and smoking-attributable disease between African Americans and European Americans."

The Scan

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.