Greater diversity in genetic studies helps researchers uncover new
insights

Date:
April 12, 2022
Source:
Penn State
Summary:
Increasing the diversity of genomic samples can improve researchers'
ability to identify important genetic markers for health conditions.



FULL STORY ==========================================================================
In genomic studies, researchers examine the DNA of a population to
understand the influence of genetics on health and disease. Though genomic studies have been common for more than a decade, most participants in
these studies have been of European descent.


==========================================================================
A new study led by Lindsay Ferna'ndez-Rhodes, assistant professor of biobehavioral health at Penn State, and Mariaelisa Graff, associate
professor of epidemiology at University of North Carolina at Chapel
Hill, has shown that increasing the diversity of genomic samples can
improve researchers' ability to identify important genetic markers for
health conditions.

Precision Medicine One of the goals of conducting genomic studies is to
develop precision medicine, which is the delivery of the exact treatment
or medication that a person needs exactly when they need it.

"Precision medicine is a great idea, but it only works if we study
the full diversity of the populations that we may see in the clinic," Ferna'ndez-Rhodes explained. "We cannot treat people with precision if
we do not have the relevant data. Previous large-scale genomic studies
have largely overlooked Hispanic/Latino people. Since the United States is becoming increasingly diverse, our ability to provide appropriate medical treatment will suffer if the gaps in our genomic data are not addressed."
The Hispanic/Latino Anthropometry Consortium Ferna'ndez-Rhodes and Graff
were joined by more than 100 researchers from around the world to form the Hispanic/Latino Anthropometry Consortium. The consortium pools research expertise and genetic data on people of Hispanic/ Latino ethnicity in
order to bolster the diversity in genomic studies.



==========================================================================
"Our consortium fills a major research gap in genomic studies. Inclusion
of individuals of diverse ancestral backgrounds is imperative, both from
the perspective of scientific necessity and equity," said Kari E. North, professor of epidemiology at the University of North Carolina, one of
the consortium's multiple principal investigators, and coauthor of this research. "By embracing diversity, we are discovering novel genomic associations and moving the field forward." The value of diversity
in genomic studies In a new article in Human Genetics and Genomics Advances,Ferna'ndez-Rhodes and Graff led the examination of genomic data
from more than 70,000 Hispanic/Latino individuals. The data were compiled
from 18 smaller studies and combined with two other consortia to bring the total sample to over 470,000 adults. To date, the article is the largest published genomic study of body measures in Hispanic/Latino individuals.

The researchers identified regions of the genome that are associated with
three body measurements: body mass index (BMI), height, and waste-to-hip
ratio. BMI, a ratio of weight to height, is the most common assessment
of obesity used by physicians. Waist-to-hip ratio indicates where on
their bodies people are carrying excess weight.

Consortium researchers identified 42 previously unidentified regions of
the human genome related to BMI, height, and waist-to-hip ratio. These
traits have been examined in previous genomic studies, but the unique
ancestry and experiences of Hispanic/Latino people made the regions
easier to identify using the consortium's combined data.

The newly identified regions of the genome may help scientists understand
how people grow, develop, and -- perhaps most importantly for human
health - - develop obesity. Significantly, the regions appear to be
relevant to the health and development of all people, regardless of their ancestry. The researchers say that the results indicate a widespread
need to build larger, more diverse data sources.

"There is a very large gap between who is experiencing obesity
and who is being included in genomic studies. The consortium is
working to close one part of that gap. Hopefully, this is the first
step of many toward increased diversity in genomic studies," said Ferna'ndez-Rhodes. "Researchers need to ensure that all people are
represented in our scientific knowledge base. We need to harness the power
of diversity to uncover the genes that pattern human health and disease."

========================================================================== Story Source: Materials provided by Penn_State. Original written by
Aaron Wagner. Note: Content may be edited for style and length.


========================================================================== Journal Reference:
1. Lindsay Ferna'ndez-Rhodes, Mariaelisa Graff, Victoria L. Buchanan,
Anne
E. Justice, Heather M. Highland, Xiuqing Guo, Wanying Zhu,
Hung-Hsin Chen, Kristin L. Young, Kaustubh Adhikari, Nicholette
D. Palmer, Jennifer E. Below, Jonathan Bradfield, Alexandre
C. Pereira, La'Shaunta' Glover, Daeeun Kim, Adam G. Lilly, Poojan
Shrestha, Alvin G. Thomas, Xinruo Zhang, Minhui Chen, Charleston
W.K. Chiang, Sara Pulit, Andrea Horimoto, Jose E. Krieger,
Marta Guindo-Marti'nez, Michael Preuss, Claudia Schumann, Roelof
A.J. Smit, Gabriela Torres-Meji'a, Victor Acun~a-Alonzo, Gabriel
Bedoya, Maria-Ca'tira Bortolini, Samuel Canizales-Quinteros,
Carla Gallo, Rolando Gonza'lez-Jose', Giovanni Poletti, Francisco
Rothhammer, Hakon Hakonarson, Robert Igo, Sharon G. Adler, Sudha K.

Iyengar, Susanne B. Nicholas, Stephanie M. Gogarten, Carmen
R. Isasi, George Papnicolaou, Adrienne M. Stilp, Qibin Qi, Minjung
Kho, Jennifer A.

Smith, Carl D. Langefeld, Lynne Wagenknecht, Roberta Mckean-Cowdin,
Xiaoyi Raymond Gao, Darryl Nousome, David V. Conti, Ye Feng,
Matthew A.

Allison, Zorayr Arzumanyan, Thomas A. Buchanan, Yii-Der Ida Chen,
Pauline M. Genter, Mark O. Goodarzi, Yang Hai, Willa Hsueh, Eli Ipp,
Fouad R.

Kandeel, Kelvin Lam, Xiaohui Li, Jerry L. Nadler, Leslie J. Raffel,
Kathryn Roll, Kevin Sandow, Jingyi Tan, Kent D. Taylor, Anny
H. Xiang, Jie Yao, Astride Audirac-Chalifour, Jose de Jesus
Peralta Romero, Fernando Hartwig, Bernando Horta, John Blangero,
Joanne E. Curran, Ravindranath Duggirala, Donna E. Lehman, Sobha
Puppala, Laura Fejerman, Esther M. John, Carlos Aguilar-Salinas,
Noe"l P. Burtt, Jose C. Florez, Humberto Garci'a-Orti'z, Clicerio
Gonza'lez-Villalpando, Josep Mercader, Lorena Orozco, Teresa
Tusie'-Luna, Estela Blanco, Sheila Gahagan, Nancy J. Cox, Craig
Hanis, Nancy F. Butte, Shelley A. Cole, Anthony G.

Comuzzie, V. Saroja Voruganti, Rebecca Rohde, Yujie Wang, Tamar
Sofer, Elad Ziv, Struan F.A. Grant, Andres Ruiz-Linares, Jerome
I. Rotter, Christopher A. Haiman, Esteban J. Parra, Miguel Cruz,
Ruth J.F. Loos, Kari E. North. Ancestral diversity improves
discovery and fine-mapping of genetic loci for anthropometric
traits--The Hispanic/Latino Anthropometry Consortium. Human
Genetics and Genomics Advances, 2022; 3 (2): 100099 DOI:
10.1016/j.xhgg.2022.100099 ==========================================================================

Link to news story: https://www.sciencedaily.com/releases/2022/04/220412141033.htm

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