
QTL 18 and Bone Mineral Density: What Research Shows
Research on QTL 18 and bone strength spans human osteoclast eQTLs, an RREB1 SNP in postmenopausal osteoporosis and a bone density GWAS in three pig breeds.

MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.

Research on QTL 18 and bone strength spans human osteoclast eQTLs, an RREB1 SNP in postmenopausal osteoporosis and a bone density GWAS in three pig breeds.

Reduced ability to detect and interpret odors is the main sign, and sequencing of olfactory receptor genes is used to pinpoint variants and predict treatment response.

Tumors arising in the adrenal cortex that overproduce androgens cause hormonal imbalance; imaging, hormonal evaluation and biopsy confirm ASACC before genetic testing.

Hearing loss alongside heart muscle disease can share a single genetic cause; RMND1 variants, Fabry's disease and Alström syndrome each have their own DNA test.

Rare among the cardiomyopathies, familial RCM stiffens the heart muscle and reduces chamber filling; MYH7, ABCC9 and FLNC are among the genes identified so far.

Opacity at the back of the lens can be present from birth. Families studied carry PITX3, CRYGD and PRDM13 variants that exome sequencing is able to identify.

A posterior polar cataract, small eye size and neurodevelopmental differences define Cataract 11, caused by EPHA2 mutations. Prenatal and carrier testing are options.

An INPP5K mutation was found in three patients with congenital cataracts, corneal dystrophy and intellectual disability; SLC4A11 links to late-onset Fuchs dystrophy.