In PLOS One, American and Indian researchers report on findings from an ancestry analysis on northern India's Kashmiri population. The team did array-based genotyping on 15 Kashmiri individuals from the Kashmir Valley, 16 Kashmiri Tibetans from Srinagar, India, and 32 Tibetan exiles in an effort to understand whether the Kashmiri population has Greek and/or Jewish ancestry, as long suspected. Compared with SNP patterns in 1,750 previously genotyped individuals from populations around the world, it found that the Kashmiri individuals clustered with neither northern Greek nor Jewish populations from Greece and Turkey. Instead, the population appeared to be genetically similar to populations that neighbor it geographically, with the Kashmiri Tibetans showing additional ancestry from populations in Tibet, India, Pakistan, and western Asia.
A team from Sweden, the US, and Norway take a look at genetic factors influencing gestational age for another paper in PLOS One. The researchers did a series of genome-wide association analyses involving 1,921 Norwegian mothers and 1,199 children from the Norwegian Mother and Child Cohort, searching for maternal loci linked to spontaneous delivery type, ultrasound-dated gestational age, and so on. Though they did not uncover statistically significant associations, the maternal loci showing potential ties to labor-initiated delivery appeared to be enriched for genes related to infection, inflammation, immunity, and uterine functions. "Our analyses support the role of inflammatory pathways in determining pregnancy duration," they write, "and provide a list of 32 candidate genes for a follow-up work."
For a paper appearing in PLOS Genetics, researchers from Brigham and Women's Hospital, the Broad Institute, and elsewhere describe driver mutations for renal angiomyolipoma that involve the tuberous sclerosis complex genes TSC1 or TSC2. The team did exome sequencing on samples from 15 individuals, including 30 benign angiomyolipoma samples from the kidney and two lymphangioleiomyomatosis samples from the lung. Three of the individuals involved in the study had been diagnosed with tuberous sclerosis complex, a rare condition marked by benign tumors in multiple tissue and organ types. In the protein-coding sequences from tumor and normal tissue, the investigators uncovered biallelic loss of TSC2 or TSC1 in 30 of the 32 tumors tested, while somatic changes in other genes appeared to occur relatively rarely.