Brooke–Spiegler Syndrome Locus Assigned to 16q12-q13

Fine scale mapping of the breast cancer 16q12 locus.

Recent genome-wide association studies have identified a breast cancer susceptibility locus on 16q12 with an unknown biological basis. We used a set of single nucleotide polymorphism (SNP) markers to generate a fine-scale map and narrowed the region of association to a 133 kb DNA segment containing the largely uncharacterized hypothetical gene LOC643714, a short intergenic region and the 5' end...

Identification of a new locus at 16q12 associated with time to asthma onset.

BACKGROUND Asthma is a heterogeneous disease in which age of onset plays an important role. OBJECTIVE We sought to identify the genetic variants associated with time to asthma onset (TAO). METHODS We conducted a large-scale meta-analysis of 9 genome-wide association studies of TAO (total of 5462 asthmatic patients with a broad range of age of asthma onset and 8424 control subjects of Europe...

LETTER TO JMG A locus for autosomal dominant keratoconus maps to human chromosome 3p14–q13

K eratoconus (OMIM148300) is a bilateral, non-inflammatory, slowly progressive, corneal ectasia that is a major cause of corneal transplant. Characteristically, the cornea becomes thin and conical, with myopia and irregular astigmatism that leads to vision impairment. The incidence of keratoconus is between 50 and 230 per 100 000, with remarkable differences between ethnic groups. Although the ...

A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13.

K eratoconus (OMIM148300) is a bilateral, non-inflammatory, slowly progressive, corneal ectasia that is a major cause of corneal transplant. Characteristically, the cornea becomes thin and conical, with myopia and irregular astigmatism that leads to vision impairment. The incidence of keratoconus is between 50 and 230 per 100 000, with remarkable differences between ethnic groups. Although the ...

Furberg assigned to them ?