Clinical trial NCT05156255: Profile of Human Milk Oligosaccharides and FUT2 Polymorphism of Mothers in Indonesia
Official title: Profile of Human Milk Oligosaccharides and FUT2 Polymorphism of Mothers in Indonesia: A Study on the Association Between Maternal Genotype-Phenotype Secretor Status and Short Chain Fatty Acid Profile Based on the Mother-Infant Genotype Pair
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Breastfeeding, Exclusive
Keywords: Human Milk Oligosaccharide
Short Chain Fatty Acid
Lead sponsor: Indonesia University
Sponsor class: OTHER
Collaborators: name: University Medical Center Groningen
First posted: 2021-12-14
Enrollment: 120
Sex: ALL
Minimum age (years): 2
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: OTHER
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Eligible mothers and infants visiting the research site during recruitment.

Brief summary: Human milk oligosaccharides (HMOs), the third most abundant constituent of breastmilk, are known to have beneficial effects on infant immunity. Maternal genetic polymorphisms cause HMO variability. The FUT2 gene determines the secretor status, whereas the FUT3 gene is responsible for the expression of Lewis fucosyltransferase. Therefore, breastmilk can be classified to four groups according to the variation. To date, this variability has not been investigated in Indonesia. This study aims to evaluate the association between FUT2 gene polymorphism and 2'-Fucosyllactose (2'-FL) secretor phenotype. In addition, infant FUT2 gene polymorphism and short chain fatty acid (SCFA) profile from stool samples are also analysed.

Detailed description: Eligible mother-infant pairs are explained about this study. Those willing to participate in this study are asked for written informed consent. Mothers are interviewed about their baseline characteristics, family pedigree, nutritional intake, and routine drug consumption. Infants are checked for their birth history. Both are measured for weight and height.

Four specimens are collected from the subjects:

1. Mother

   1. Breastmilk

      Breastmilk is expressed at 8-11 AM to avoid variability due to circadian rhythm. One breast is emptied, 30 mL of breastmilk is stored in a sterile container, and the rest is returned for feeding. Breastmilk is divided to five 2-mL cryovials and stored in a -80°C freezer. The remaining is stored in a -20°C freezer.
   2. Blood

   Blood samples (3 mL) are collected for DNA extraction.
2. Infant

   1. Buccal cells

      Buccal swab kits are used to obtain samples for DNA extraction.
   2. Stool

Stool specimens are collected at the age of four weeks in a sterile container and stored in a -80°C storage before short chain fatty acid profile analysis.

Eligibility criteria: Inclusion Criteria:

* Mother

  1. Minimum of 18 years old
  2. With term infants aged 2-5 weeks
  3. Exclusively breastfeed
  4. Healthy condition
  5. Agree to participate and sign the informed consent
* Infant

  1. Infant with mother who fulfil the eligibility criteria

Exclusion Criteria:

* Mother

  1. Has a Caucasian ancestor in two generations above
  2. Infant has multiple congenital anomalies
* Infant

  1. Has ever received antibiotics

Primary outcomes:
measure: Human milk oligosaccharides profile of Indonesian mothers
timeFrame: 1 day
measure: Proportion of FUT2 secretor genotype of mothers based on single nucleotide polymorphism (SNP) rs601338
timeFrame: 1 day
measure: Association between rs601338 FUT2 secretor genotype and 2'-FL secretor phenotype in mothers
timeFrame: 1 day
Secondary outcomes:
measure: Novel FUT2 polymorphism in Indonesian mothers
timeFrame: 1 day
measure: Proportion of FUT2 secretor genotype of infants based on single nucleotide polymorphism (SNP) rs601338
timeFrame: 1 day
measure: Novel FUT2 polymorphism in infant
timeFrame: 1 day
measure: Profile of infant stool short chain fatty acid based on mother-infant FUT2 genotype pairs
timeFrame: 1 day
Other outcomes:
Locations:
city: Jakarta Pusat
country: Indonesia
facility: Faculty of Medicine, Universitas Indonesia
state: DKI Jakarta
Study officials:
affiliation: Dept of Pediatric, Faculty of Medicine, Universitas Indonesia/ Cipto Mangunkusumo General Hospital
name: Klara Yuliarti, MD
role: PRINCIPAL_INVESTIGATOR
References: