POLIMORFISME GEN TRANS MEMBRANE PROTEASE SERIN 6 (TMPRSS6) SEBAGAI FAKTOR RISIKO ANEMIA DEFISIENSI BESI PADA IBU HAMIL
Backgrounds. TMPRSS6 gene was reported to have an important role in iron homeostasis in the body. Mutations of this gene lead to changes in the structure and function of matriptase-2 enzyme resulting in increase levels of hepcidin in circulation that inhibits iron absorption in the small intestine,...
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| Main Authors: | , |
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| Format: | Theses and Dissertations NonPeerReviewed |
| Published: |
[Yogyakarta] : Universitas Gadjah Mada
2013
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| Online Access: | https://repository.ugm.ac.id/119214/ http://etd.ugm.ac.id/index.php?mod=penelitian_detail&sub=PenelitianDetail&act=view&typ=html&buku_id=59210 |
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| Institution: | Universitas Gadjah Mada |
| Summary: | Backgrounds. TMPRSS6 gene was reported to have an important role in iron homeostasis in the body. Mutations of this gene lead to changes in the structure and function of matriptase-2 enzyme resulting in increase levels of hepcidin in circulation that inhibits iron absorption in the small intestine, the release of iron deposits in the liver and iron recycling in macrophages. Several polymorphisms of
TMPRSS6 including single nucleotide polymorphism (SNP) rs855791 (C2207T) closely associated with iron deficiency anemia (IDA), decreased hemoglobin level and erythrocyte indices and increased serum hepcidin. This study aimed to determine the relationship of SNP rs855791 of TMPRSS6 and IDA in pregnant women in Indonesia.
Methods. This study was an observational analytic case control. Sample population were pregnant women in the region of Surakarta who met inclusion and exclusion criteria. Sixty seven subjects were recruited as samples consist of 25 subjects with anemia and 42 subjects non anemia. Subjects with anemia consist
of 7 subjects with IDA and 18 anemia without IDA subjects. All subjects were examined for hemoglobin and erythrocyte indices, polymorphism rs855791 detection using PCR-ARMS and sequencing, and ELISA for detection of serum hepcidin level. Chi square test and odds ratio models were used to evaluate the association between polymorphism and IDA risk. Independent t-test was used to
determine the difference of Hb, erythrocyte indices and hepcidin among genotype. A p value < 0.05 considered as significant different.
Results. SNP rs855791 was detected in all subjects which are both homozygous and heterozygous. Frequency of subject carrying T allele was high (IDA = 64.3% and anemia non IDA = 44.4%). In this study rs855791 was a risk factor for IDA (p = 0.208, OR =2.250, 95% CI 0.628-8.057). The mean erythrocyte indices in
subjects carrying the T allele was lower than subjects carrying only C allele although not statistically significant (p>0.05). The mean serum hepcidin in subjects carrying T allele was higher than subjects carrying only C allele but not statistically significant (p>0.05).
Conclusions. In this study the rs855791 polymorphism of TMPRSS6 gene is a risk factor for iron deficiency anemia. The T allele lead to increased serum hepcidin and decreased erythrocyte indices as IDA parameters. |
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