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"Latar Belakang: Kelahiran preterm adalah kelahiran sebelum usia kehamilan 37 minggu lengkap. Secara global, kelahiran preterm menyebabkan morbiditas dan mortalitas bayi yang tinggi. Laporan World Health Organization (WHO) tahun 2010, Indonesia saat ini termasuk dalam 10 besar negara dengan jumlah kelahiran preterm terbanyak yaitu 15,5 per 100 kelahiran hidup. Berbagai faktor dihubungkan dengan penyebab terjadinya kelahiran preterm, termasuk salah satunya adanya defisiensi asam lemak tidak jenuh rantai panjang selama kehamilan.Tujuan: Mengetahui kadar asam lemak tidak jenuh rantai panjang (ALA, EPA, DHA, LA dan AA) pada ibu hamil dengan kelahiran preterm dan aterm.Metode: Penelitian dilakukan dengan uji potong-lintang dengan subjek penelitianibu hamil preterm dan aterm yang melakukan persalinan di RSUPN Dr. Cipto Mangunkusumo dan RS Budi Kemuliaan Jakarta pada Juli hingga Desember 2019.Hasil: Diperoleh 60 subjek penelitian dengan 30 subjek pada masing-masing kelompok. Hasil dengan kategori rendah didapatkan pada kelompok preterm dengan median kadar ALA 47 μmol/L, AA 491 μmol/L dengan perbedaan yang bermakna dengan kelompok aterm (p=0,03 dan p=0,01). Indeks omega-3 pada masing-masing kelompok juga rendah yaitu 2,5% pada preterm dan 3% pada aterm.Kesimpulan: Terdapat perbedaan yang bermakna antara kadar ALA dan AA pada ibu yang mengalami kelahiran preterm dan aterm. Tidak terdapat perbedaan yang bermakna kadar EPA, DHA, LA, indeks omega-3, rasio omega-6/ omega-3, dan rasio AA/EPA pada ibu yang mengalami kelahiran preterm dan aterm.

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Background: Approximately 15 million babies were born prematurely every year with one million of them dying from preterm birth complications. Indonesia was among the top 10 countries worldwide with the highest number of preterm births, which was 15.5 preterm births per 100 live births. In recent years, several studies have been investigating the role of nutrition in reducing the risk of preterm birth, one that seems promising is long-chain unsaturated fatty acids (LCPUFA). This study was conducted to determine LCPUFA status in pregnant women who undergo preterm and term births in Jakarta, Indonesia.Objective: To determine the levels of long-chain unsaturated fatty acids (ALA, EPA, DHA, LA dan AA) in pregnant women undergoing preterm and term birth.Method: A descriptive study was conducted on 30 pregnant women in each group who experienced preterm and term births at Cipto Mangunkusumo and Budi Kemuliaan Hospital Jakarta between July and December 2019. Maternal blood plasma was examined by measuring the concentration of alpha-linolenic acid (ALA), eicosapentaenoic acid (EPA), docosahexaenoic acid (DHA), linoleic acid (LA), arachidonic acid (AA), omega-3 index, omega-6/ omega-3, and AA/ EPA ratio.Result: The median levels of ALA and AA were low in the preterm birth group with significant differences between the two groups (p= 0,03 and p= 0,01). The median total concentrations of ALA, EPA, DHA, LA, AA, omega-3 index, omega-6/ omega-3, and AA/EPA ratio in preterm birth group were as follows: 47 μmol/L, 18,5 μmol/L, 262 μmol/L, LA 3382 μmol/L, 491 μmol/L, 2,5%, 13 and 26,5. While in the term birth group were as follows 58,5 μmol/L, 19 μmol/L, 262 μmol/L, LA 3382 μmol/L, 491 μmol/L, 2,5%, 13 and 26,5. The median concentration of EPA and DHA on both groups were in a normal range. Most of the subjects had a low omega-3 index, 86,7% from total subjects in preterm and 66,7% in term group.Conclusion: There are significant differences between ALA and AA concentration in women who experienced preterm and term birth. There were no significant differences in levels of EPA, DHA, LA, omega-3 index, omega-6/ omega-3 ratio, and AA/EPA ratio between the two groups."

"ABSTRAKPatomekanisme dermatitis atopik melibatkan interaksi yang kompleks antara genetik danlingkungan. Satu gen yang secara konsisten berhubungan dengan DA adalah mutasi genFilaggrin yang dapat mengganggu agregasi sitoskeleton epidermis. Beberapa usahapencegahan telah dilakukan antara lain dengan pemberian ASI eksklusif dan suplementasiLCPUFA, tetapi studi klinis dan meta-analisis tidak menunjukkan hasil yang konsisten.Inkonsistensi ini dapat disebabkan adanya variasi aktivitas enzim desaturase yang dapatmemodulasi metabolisme PUFA, yang diatur oleh gen FADS1 dan FADS2, serta usiasaat intervensi dilakukan. Diperkirakan periode in-utero memegang peran penting untukkeberhasilan intervensi.Penelitian ini bertujuan mengetahui peran mutasi gen FLG dan polimorfisme gen FADS1dan FADS2 terhadap timbulnya DA pada usia satu tahun. Tujuan Khusus yaitumengetahui frekuensi mutasi gen FLG dan polimorfisme gen FADS1 dan FADS2,mengetahui peran polimorfisme gen FADS1 dan FADS2 terhadap substrat dan produkLCPUFA dan efeknya terhadap timbulnya DA, mengetahui pengaruh peningkatan rasioAA terhadap DHA di awal kehidupan terhadap timbulnya DA, mengetahui peranprotektif ASI eksklusif untuk pencegahan DA.Digunakan dua desain penelitian 1) potong lintang untuk mengetahui peran polimorfismegen FADS1 dan FADS2 terhadap perubahan komposisi LCPUFA saat lahir, 2) analisiskesintasan untuk melihat pengaruh mutasi gen Filaggrin dan polimorfisme gen FADS1dan FADS2 terhadap timbulnya DA, mengetahui peran peningkatan rasio AA/DHA sertamengetahui efek protektif ASI eksklusif terhadap timbulnya DA pada usia satu tahun.Insidens DA dalam penelitian ini sebesar 15,4%. Tidak ditemukan 5 mutasi gen Filaggrinsesuai dengan data NCBI. Frekuensi alel minor pada polimorfisme gen FADS1 22−27%,sedangkan untuk FADS2 berkisar 15−48%. Dalam penelitian ini terlihat pengaruhpolimorfisme gen FADS1 dan FADS2 terhadap perubahan komposisi LCPUFA,khususnya peningkatan asam arakidonat pada kelompok alel minor. Dalam penelitian initidak ditemukan hubungan antara komposisi LCPUFA dan polimorfisme gen FADSterhadap timbulnya DA. Pemberian ASI eksklusif selama 3−6 bulan tampaknya memberiefek proteksi terhadap DAPeneIitian ini diharapkan dapat menjadi landasan untuk tindakan pencegahan DA.Penelitian ini tidak berhasil menemukan common mutation yang dilaporkan NCBI.Mutasi gen Filaggrin tergantung perbedaan ras, maka untuk menemukan mutasi yangbaru lebih baik digunakan sekuensing gen secara penuh. Adanya perbedaan frekuensi alelminor antara anak Indonesia dan Eropa dan aktivitas enzim yang bekerja dengan arahyang berlawanan dengan alel minor populasi Eropa, mengakibatkan peningkatan kadarAA dan DGLA pada populasi alel minor dalam penelitian ini.

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ABSTRACTPathomechanism of atopic dermatiis is linked to the gene-environment interactions. Onegenetic locus consistently linked with AD is mutations of filaggrin gene that can inducedisruption in epidermal cytoskeleton aggregation. Some protective measures for theprevention of AD are breastfeeding and the provision of LCPUFA, but clinical studiesand meta-analysis have shown inconsistent results, which maybe due variation in theactivity of desaturating enzymes modulating PUFA metabolism, which are encoded bythe FADS1 and FADS2 gene cluster and the age at which LCPUFA interventions areprovided.The general objective is to characterize the impact of genetic variation in the FLG andFADS1, FADS2 genes cluster on LC-PUFA concentration in Indonesian infants. Specificobjectives including the characterization of the frequency of FLG and FADS1, FADS2gene single nucleotide polymorphisms (SNPs), the influence of FADS genepolymorphisms on fatty acid composition and on the occurence of AD, the impact ofincreasing ratio of arachidonic acid to docosahexaenoic acid on the progression of AD,and to see the protective effect of exclusive breastfeeding for the prevention of AD in thefirst year of life in Indonesian infants.Designs were 1) cross-sectional study to see the role of FADS1 and FADS2 genepolymorphism on the composition of LCPUFA at birth, 2) survival analysis to see therole of FLG mutation and FADS1 and FADS2 gene polymorphism on the progression ofAD, the role of increasing ratio of AA/DHA and the protective effect of exclusivelybreastfeeding on the occurence of AD in the first year of life.The incidence of AD in this study is 15.4%, No Filaggrin gene mutations based on 5reported pathogenic SNP was found. The minor allele frequency of FADS1 genepolymorphism were 22−27%, whereas for FADS2 were 15−48%. We found a strongcorrelation between FADS gene polymorphisms with the changes of LCPUFAcomposition, especially for the increment of arachidonic acid. No association was foundbetween the composition of LCPUFA and between FADS genes polymorphisms withAD. Exclusive breastfeeding until 3 months was found to be protective against AD.In this study we did not find Filaggrin mutation that reported as pathogenic from NCBI.The frequency of FADS1 polymorphism were 22−27%, whereas FADS2 polymorphismwere 15−48%. Strong correlation was seen between genetic variations of FADS geneswith the alteration of LCPUFA. Arachidonic acid as the product of LCPUFA was higherin the minor allele compared with the major allele. No association were found betweengenetic variation of FADS genes and the increased ratio of AA/DHA with the occurenceof AD. Exclusive breastfeeding for 3−6 months seems to give protective effect"