Large-scale analysis identifies new genetic alterations associated with height

December 30, 2010, Cell Press

A large collaborative study has added to the growing list of genetic variants that determine how tall a person will be. The research, published by Cell Press on December 30 in the American Journal of Human Genetics, identifies uncommon and previously unknown variants associated with height and might provide insight into the genetic architecture of other complex traits.

Although environmental variables can impact attained adult height, it is clear that height is primarily determined by specific alleles that an individual inherits. Height is thought to be influenced by variants in a large number of genes, and each variant is thought to have only a small impact on height. However, the genetics of height are still not completely understood. "All of the variants needed to explain height have not yet been identified, and it is likely that the additional genetic variants are uncommon in the population or of very small effect, requiring extremely large samples to be confidently identified," explains Dr. Hakon Hakonarson from The Children's Hospital of Philadelphia.

To search for genetic variants associated with adult height, researchers performed a complex of more than 100,000 individuals. "We set out to replicate previous genetic associations with height and to find relevant genomic locations not previously thought to underpin this complex trait" explains Dr. Brendan Keating, also from The Children's Hospital of Philadelphia. The authors report that they identified 64 height-associated variants, two of which would not have been observed without such a large sample size and the inclusion of direct genotyping of uncommon single-nucleotide polymorphisms (SNPs). A SNP is a variation in just one nucleotide of a ; think of it as a spelling change affecting just one letter in an uncommonly long word.

These results suggest that genotyping arrays with SNPs that are relatively rare and occur in less than 5% of the population have the ability to capture new signals and disease variants that the common SNP arrays missed (i.e., 30 new signals in this study), as long as sample sizes are large enough. These low-frequency variants also confer greater effect sizes and, when associated with a disease, could be a lot closer to causative than more common variants. "The increased power to identify variants of small effect afforded by large sample size and dense genetic coverage including low-frequency SNPs within loci of interest has resulted in the identification of association between previously unreported genetic variants and height," concludes Dr. Keating.

Related Stories

Recommended for you

Study of smoking and genetics illuminates complexities of blood pressure

February 15, 2018
Analyzing the genetics and smoking habits of more than half a million people has shed new light on the complexities of controlling blood pressure, according to a study led by researchers at Washington University School of ...

New mutation linked to ovarian cancer can be passed down through dad

February 15, 2018
A newly identified mutation, passed down through the X-chromosome, is linked to earlier onset of ovarian cancer in women and prostate cancer in father and sons. Kunle Odunsi, Kevin H. Eng and colleagues at Roswell Park Comprehensive ...

A gene that increases the risk of pancreatic cancer controls inflammation in normal tissue

February 14, 2018
Inflammation is a defensive response of the body to pathogens, but when it persists, it can be harmful, even leading to cancer. Hence, it is crucial to understand the relationship between inflammation and cancer. A group ...

Scientists develop low-cost way to build gene sequences

February 13, 2018
A new technique pioneered by UCLA researchers could enable scientists in any typical biochemistry laboratory to make their own gene sequences for only about $2 per gene. Researchers now generally buy gene sequences from commercial ...

New insights into gene underlying circadian rhythms

February 13, 2018
A genetic modification in a "clock gene" that influences circadian rhythm produced significant changes in the length and magnitude of cycles, providing insight into the complex system and giving scientists a new tool to further ...

Clues to aging found in stem cells' genomes

February 13, 2018
Little hints of immortality are lurking in fruit flies' stem cells.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.