RESEARCH: JABSOM Scientists link genetic factors in DNA to pre-term Birth in Filipino women

Scientists at the University of Hawai`i (UH) have uncovered a genetic explanation for why Filipino women in the state have a higher chance of delivering their babies before full term.

Preterm birth is the leading cause of newborn deaths in the United States. Being born too early is not just detrimental to a baby’s survival outside of the womb. It can also lead to health complications in the child including mental retardation, blindness, deafness, neurological and behavioral problems. It is also now known that it makes them more prone to diabetes and cardiovascular diseases as adults.

Nearly 12% (11.7%) of Filipinos in Hawai`i deliver their babies early compared to either white (7.2%) or other Asian populations (9.0%) in the state. The normal length of pregnancy is 40 weeks; the study focused on late preterm birth (34 weeks to 36 weeks and six days).

The new research, featured as the cover story in September’s American Journal of Obstetrics & Gynecology, found an association between a genetic variant in the DNA of Filipino women and higher levels of a hormone that increases the chances of preterm birth.

Dr. Rocha presents his Maternal-Fetal Medicine Thesis Defense.

Dr. Frederico Rocha, a former Maternal-Fetal Medicine Fellow in the Department of Obstetrics and Gynecology at the John A. Burns School of Medicine, presents his Maternal-Fetal Medicine Thesis Defense.

The article,“Genetic associations of relaxin: preterm birth and premature rupture of fetal membranes” was written by Frederico Rocha, MD; Thomas Slavin, MD; Dongmei Li, PhD; Maarit Tiirikainen, PhD and Gillian Bryant-Greenwood, PhD.

Researchers selected maternal blood, DNA, and tissue from the UH Biospecimen Repository. The repository contains a collection of samples from over 8,000 pregnant women in Hawai`i who volunteered over the last several years to assist in health research. Ninety-four patients met the inclusion criteria and could trace back their Filipino ancestry to all four of their grandparents.

The scientific team found a small genetic mutational change in the women’s DNA was linked to the higher levels of the protein relaxin in the uterine cells.

"It's the protein which does the job," said Dr. Bryant-Greenwood, pictured in her lab at Kaka'ako. Photo by Deborah Manog.

“It’s the protein which does the job,” said Dr. Bryant-Greenwood, pictured in her lab at Kaka’ako. Photo by Deborah Manog.

“We were excited because there are very few studies which link genetics right through to the levels of a protein being expressed in the cells of interest,” said Dr. Bryant-Greenwood from the JABSOM Department of Obstetrics, Gynecology and Women’s Health. “Often people look at the genetics but they don’t look at the effects of the genetics on the protein being produced in an actual cell type and that’s why this is important.”

“It’s the protein which does the job,” Dr. Bryant-Greenwood said.

What makes this development even more fascinating is that a previous study in Denmark showed that Danish women also carried this small change in their DNA, making them susceptible to preterm birth. This connection between the study on preterm birth in Danish women and Filipino women suggests that this is important in more than one population in the world.

Dr. Bryant-Greenwood hopes that with this new information, pregnant Filipino patients, could potentially be offered a test to show if they were at high risk and in any event, be more carefully monitored.

The images from Dr. Rocha and his team’s research, which appeared on the American Journal of Obstetrics & Gynecology and which are shown in our primary photograph, are described by the journal as:
“Nuclear membranes are outlined in green; extracellular matrix is pink, allowing for quantification of the cytoplasmic hormone only.”

The research was supported by grants from the National Institutes of Health: National Center for Research Resources (U54RR026136), National Institute on Minority Health Disparities (U54MD007584), and The National Cancer Institute (P30-CA071789-12S9).

TJ Slavin, Ivica Zalud, Gillian Bryant-Greenwood, Frederico Rocha, Dena Towner, Claire Wright (Thesis Judge from Chaminade), Aaron Caughey (Visiting Professor and Thesis Judge from OHSU), Lisa Bartholomew, Janet Burlingame.

TJ Slavin, Ivica Zalud, Gillian Bryant-Greenwood, Frederico Rocha, Dena Towner, Claire Wright (Thesis Judge from Chaminade), Aaron Caughey (Visiting Professor and Thesis Judge from OHSU), Lisa Bartholomew, Janet Burlingame.

The team’s work was conducted at JABSOM through the RMATRIX (R stands for “Research Centers in Minority Institutions”, MATRIX for “Multidiscipinary and Translational Research Infrastructure Expansion”) Project.

RMATRIX seeks to focus UH health research to understand and address health disparities in Hawai`i.

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