Novel genetic variants of transferrin receptor 2 exon 4 and cytokines profile of anemic and nonanemic pregnant women in Central Java, Indonesia

Introduction Ritodrine is one of the most commonly used tocolytics in preterm labor, acting as a ß2-adrenergic agonist that reduces intracellular calcium levels and prevents myometrial activation. Ritodrine infusion can result in serious maternal complications, and pulmonary edema is a particular concern among these. The cause of pulmonary edema following ritodrine treatment is multifactorial; however, the contributing genetic factors remain poorly understood. This study investigates the genetic variants associated with ritodrine-induced pulmonary edema. Methods In this case-control study, 16 patients who developed pulmonary edema during ritodrine infusion [case], and 16 pregnant women who were treated with ritodrine and did not develop pulmonary edema [control] were included. The control pregnant women were selected after matching for plurality and gestational age at the time of tocolytic use. Maternal blood was collected during admission for tocolytic treatment, and whole exome sequencing was performed with the stored blood samples. Results Gene-wise variant burden (GVB) analysis resulted in a total of 71 candidate genes by comparing the cumulative effects of multiple coding variants for 19729 protein-coding genes between the patients with pulmonary edema and the matched controls. Subsequent data analysis selected only the statistically significant and deleterious variants compatible with ritodrine-induced pulmonary edema. Two final candidate variants in CPT2 and ADRA1A were confirmed by Sanger sequencing. Conclusions We identified new potential variants in genes that play a role in cyclic adenosine monophosphate (cAMP)/protein kinase A (PKA) regulation, which supports their putative involvement in the predisposition to ritodrine-induced pulmonary edema in pregnant women.

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KONTRIBUSI PENGETAHUAN IBU HAMIL TRIMESTER III DENGAN SIKAP TENTANG DETEKSI DINI TANDA BAHAYA KEHAMILAN

Jurnal Kebidanan ◽

10.35872/jurkeb.v8i01.201 ◽

2016 ◽

Vol 8 (01) ◽

Author(s):

Nurul Eko Widiyastuti ◽

Sri Madya Bhakti Eka Rini

Keyword(s):

Early Detection ◽

Pregnant Women ◽

Random Sampling ◽

Comparative Research ◽

Research Approach ◽

Third Trimester ◽

Danger Signs ◽

Central Java ◽

Causal Comparative ◽

Central Java Province

Nurul Eko Widiyastuti 1), Sri Madya Bhakti Eka Rini 2)1) 2) Stikes Estu Utomo BoyolaliE-mail: [email protected], [email protected] pencapaian pemeriksaan kehamilan khususnya K1 dan K4 tahun 2013 di Indonesia yaitu 95% untuk K1 dan 90% untuk K4. Cakupan kunjungan ibu hamil K4 propinsi Jawa Tengah tahun 2013 adalah 92,13% dan target K4 propinsi Jawa Tengah tahun 2013 sebesar 80%. Data kabupaten Boyolali tahun 2014 untuk K1 85% sedangkan K4 80% (Dinkes Kabupaten Boyolali, 2014). Faktor-faktor yang berperan dalam keberhasilan program kesehatan keluarga tentang cakupan K1 dan K4 adalah kesadaran ibu hamil yang tinggi untuk melakukan pemeriksaan kehamilan dan melakukan deteksi dini terhadap tanda bahaya kehamilan. Metode Penelitian : Penelitian yang dilakukan ini merupakan penelitian Ex-postfacto dengan pendekatan causal comparative research dan menggunakan teknik sampling Purposive Random Sampling yaitu 50 responden. Instrumen penelitian menggunakan alat kuesioner untuk mengetahui pengetahun dan sikap responden yang sebelumnya sudah dilakukan uji validitas dan reabilitas. Analisa data menggunakan analisis regresi. Hasil Penelitian : Dari hasil uji statistik diperoleh nilai correlation coefficien 0.349 dengan Sig. 0.013, hal ini menunjukan bahwa nilai ρ < 0,013 berarti bahwa terdapat tingkat hubungan yang rendah sebesar 0.349 atau 34,9 % antara pengetahuan dengan sikap ibu hamil trimester III tentang deteksi dini tanda bahaya kehamilan. Adjusted R Square 0,484 berarti 48,4% variabel sikap dapat dijelaskan oleh variabel pengetahuan, sedangkan sisanya (100% - 48,4% = 51,6%) dijelaskan oleh sebab-sebab lain diluar model, misalnya dukungan keluarga, motivasi bidan dan sebagainya. Kesimpulan : Pengetahuan sebagian besar dalam kategori baik yaitu ada 22 orang dengan presentase 44 %. Sikap pada penelitian ini sebagian besar dalam kategori mendukung yaitu sebanyak 24 responden dengan presentase 48 %. Hal ini berarti semakin tinggi pengetahuan maka sikap semakin baik atau mendukung.Kata Kunci : pengetahuan, sikap, ibu hamil trimester III, deteksi dini, tanda bahaya kehamilan.CONTRIBUTION OF KNOWLEDGE PREGNANT MOTHER TRIMESTER III WITH ATTITUDE ON EARLY DETECTION OF DANGER SIGNS OF PREGNANCY ABSTRACTTarget achievement pregnancy examination, especially K1 and K4 in 2013 in Indonesia, namely 95% to 90% for the K1 and K4. Coverage of pregnant women visit K4 Central Java province in 2013 was 92.13% and the target K4 Central Java province in 2013 amounted to 80%. Boyolali district data for K1 2014 K4 85% while 80% (DHO Boyolali, 2014). Factors that play a role in the success of the family health program on K1 and K4 coverage is a high awareness of pregnant women for antenatal and early detection is the danger signs of pregnancy. Methods: This research is a research Ex-postfacto with causal comparative research approach and using purposive sampling technique Random Sampling of 50 respondents. The research instrument using a questionnaire to determine the knowledge and attitudes of respondents who have previously tested the validity and reliability. Analysis of data using regression analysis. Results: From the test results obtained by statistical correlation value coefficien 0.349 with Sig. 0013, indicating that the value ρ <0.013 means that there is a low degree of correlation of 0.349 or 34.9% between knowledge and attitude of third trimester pregnant women about early detection of danger signs of pregnancy. Adjusted R Square .484 means that 48.4% variable attitude can be explained by the variable knowledge, while the rest (100% - 48.4% = 51.6%) is explained by other causes outside the model, such as family support, motivation and so forth midwife , Conclusion: Knowledge majority in both categories are 22 people with a percentage of 44%. The attitude in this study mostly in the category of supporting as many as 24 respondents with a percentage of 48%. This means that the higher the better knowledge of the attitude or support.Keywords: knowledge, attitudes, third trimester pregnant women, early detection, danger signs of pregnancy.

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Genetic Association of ERAP1 and ERAP2 With Eclampsia and Preeclampsia in Northeastern Brazilian Women

10.21203/rs.3.rs-235628/v1 ◽

2021 ◽

Author(s):

LEONARDO CAPISTRANO FERREIRA ◽

CARLOS EDUARDO MAIA GOMES ◽

PRIYA DUGGAL ◽

INGRID DE PAULA HOLANDA ◽

AMANDA SAMARA DE LIMA ◽

...

Keyword(s):

Pregnant Women ◽

Genetic Variants ◽

Antigen Processing ◽

P Value ◽

Chronic Hypertension ◽

Ang Ii ◽

Small Peptides ◽

Increased Risk ◽

Genotype C ◽

Risk Of Preeclampsia

Abstract The clinical spectrum of hypertensive disorders of pregnancy (HDP) is determined by the interplay between environmental and genetic factors, most of which remains unknown. ERAP1, ERAP2 and LNPEP genes code for multifunctional aminopeptidases involved with antigen processing and degradation of small peptides such as angiotensin II (Ang II), vasopressin and oxytocin. We aimed to test for associations between genetic variants in aminopeptidases and HDP. A total of 1282 pregnant women (normotensive controls, n=693; preeclampsia, n=342; chronic hypertension with superimposed preeclampsia, n=61; eclampsia, n=74; and HELLP syndrome, n=112) were genotyped for variants in LNPEP (rs27300, rs38034, rs2303138), ERAP1 (rs27044, rs30187) and ERAP2 (rs2549796 rs2927609 rs11135484). We also evaluated the effect of ERAP1 rs30187 on plasma Ang II levels in an additional cohort of 65 pregnant women. The genotype C/C, in ERAP1 rs30187 variant (c.1583T>C, p.Lys528Arg), was associated with increased risk of eclampsia (OR=1.85, p=0.019) whereas ERAP2 haplotype rs2549796(C)-rs2927609(C)-rs11135484(G) was associated with preeclampsia (OR=1.96, corrected p-value=0.01). Ang II plasma levels did not differ across rs30187 genotypic groups (p=0.895). In conclusion, ERAP1 gene is associated with eclampsia whereas ERAP2 is associated with preeclampsia, although the mechanism by which genetic variants in ERAPs influence the risk of preeclampsia and eclampsia remain to be elucidated.

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Variability of the Transferrin Receptor 2 Gene in AMD

Disease Markers ◽

10.1155/2014/507356 ◽

2014 ◽

Vol 2014 ◽

pp. 1-8 ◽

Cited By ~ 1

Author(s):

Daniel Wysokinski ◽

Janusz Blasiak ◽

Mariola Dorecka ◽

Marta Kowalska ◽

Jacek Robaszkiewicz ◽

...

Keyword(s):

Oxidative Stress ◽

Risk Factors ◽

Transferrin Receptor ◽

Fenton Reaction ◽

Iron Homeostasis ◽

Critical Role ◽

Age Related Macular Degeneration ◽

Age Related ◽

Its Gene ◽

Transferrin Receptor 2

Oxidative stress is a major factor in the pathogenesis of age-related macular degeneration (AMD). Iron may catalyze the Fenton reaction resulting in overproduction of reactive oxygen species. Transferrin receptor 2 plays a critical role in iron homeostasis and variability in its gene may influence oxidative stress and AMD occurrence. To verify this hypothesis we assessed the association between polymorphisms of theTFR2gene and AMD. A total of 493 AMD patients and 171 matched controls were genotyped for the two polymorphisms of theTFR2gene: c.1892C>T (rs2075674) and c.−258+123T>C (rs4434553). We also assessed the modulation of some AMD risk factors by these polymorphisms. The CC and TT genotypes of the c.1892C>T were associated with AMD occurrence but the latter only in obese patients. The other polymorphism was not associated with AMD occurrence, but the CC genotype was correlated with an increasing AMD frequency in subjects withBMI<26. The TT genotype and the T allele of this polymorphism decreased AMD occurrence in subjects above 72 years, whereas the TC genotype and the C allele increased occurrence of AMD in this group. The c.1892C>T and c.−258+123T>C polymorphisms of theTRF2gene may be associated with AMD occurrence, either directly or by modulation of risk factors.

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