Polymorphisms of the GSTT1 and GSTM1 genes in polycystic ovary syndrome

SUMMARY BACKGROUND: This study aimed to investigate the deletion polymorphisms of the genes of the glutathione S-transferase family GSTT1 and GSTM1 in patients with Polycystic Ovarian Syndrome (PCOS), comparing them with a control population. METHODS: Blood was collected from 219 women (110 with PCOS and 109 controls) and genomic DNA was extracted. For the analysis of polymorphisms, the technique used was multiplex PCR. In the statistical analysis, the chi-square test and multiple logistic regression were used. RESULTS: There is no association between the GSTM1 null and GSTT1 null genotypes with PCOS when analyzed separately (P = 0.616 and P = 0.188). The analysis of the combined genotypes showed differences between the groups (P < 0.05), evidencing that the genotypic combination GSTT1 positive and GSTM1 negative is more frequent among patients. In the multivariate analysis, smoking was more frequent in the control group (OR = 0.22; 95% CI - 0.87-0.57; P = 0.002) while the presence of a family history of PCOS (OR = 2, 96; 95% CI - 1.54-5.68; P = 0.001) was more frequent in women with PCOS. CONCLUSIONS: In the studied sample, the deletion polymorphisms of the GSTT1 and GSTM1 genes isolated are not associated with PCOS, but in combination, they may be implicated in the etiology of the condition.

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A Case-Control Study on the Relationship Between Cholecystectomy and Cholangiocarcinoma in China

10.21203/rs.3.rs-136501/v1 ◽

2020 ◽

Author(s):

Donglie Zhu ◽

Hang Fu ◽

Zelong Yang ◽

Mingzuo Jiang ◽

Yanjie Ren ◽

...

Keyword(s):

Negative Control Group ◽

Positive Control ◽

Negative Control ◽

Control Group ◽

Case Group ◽

Hepatic Hemangioma ◽

Chi Square ◽

Chi Square Test ◽

History Of ◽

The Difference

Abstract Aims: The present study aimed to explore the correlation between cholecystectomy and cholangiocarcinoma, and to provide preliminary clinical basis for precise cholecystectomy in China.Methods: We conducted a retrospective analysis of 9744 patients with cholangiocarcinoma, colon cancer, pancreatic cancer, femoral fracture, and hepatic hemangioma diagnosed in Xijing hospital from August 2008 to August 2018. They were divided into three groups: case group (1749 cases of cholangiocarcinoma), positive control group (3137 cases of colon cancer and 1950 cases of pancreatic cancer), negative control group (1794 cases of femoral fracture and 1114 cases of hepatic hemangioma). We collected the general information (gender, age), past medical history, cholecystectomy history from the patients, and these data were analyzed by chi-square test and logistic regression analysis. Results: The cholecystectomy rate of the case group was significantly higher than that of the positive control group and the negative control group by chi-square test (p<0.025). The cholecystectomy rate and the history of cholecystolithiasis were analyzed by logistic multivariate regression analysis. The OR values of cholecystectomy rate were 1.553 (95%CI: 1.311-1.840) and 3.181 (95%CI: 2.561-3.951), respectively, and the difference was statistically significant (p<0.000). The OR values of the history of cholecystolithiasis were 2.460 (95%CI: 2.093-2.890) and 5.426 (95%CI: 4.325-6.809), respectively, and the difference was statistically significant (p<0.000). In case group, the difference between cholecystectomy and cholecystolithiasis was statistically significant (p<0.000) by chi-square test. Conclusions: In conclusion, cholecystectomy is one of the risk factors of cholangiocarcinoma and the patients who undergo cholecystectomy have a higher risk of cholangiocarcinoma than the control groups. Cholecystectomy should be conducted with caution and the precise surgical treatment of gallbladder diseases is advocated.

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CLINICAL PROFILE OF YOUNG ADULTS (18-24 YEARS) WITH POLYCYSTIC OVARY SYNDROME

10.36106/ijar/1912486 ◽

2021 ◽

pp. 1-3

Author(s):

Sheila Balakrishnan ◽

MKC Nair ◽

Babu George ◽

Jaysree L ◽

Leena ML

Keyword(s):

Young Adults ◽

Nursing Students ◽

Polycystic Ovary Syndrome ◽

Polycystic Ovary ◽

Overweight And Obesity ◽

Study Group ◽

Continuous Variables ◽

Ovary Syndrome ◽

Chi Square ◽

Chi Square Test

Background: Polycystic Ovary Syndrome is a common endocrine problem with a heterogenous clinical picture. Early identication is essential to prevent metabolic problems and infertility. To estimate the prevalence of Objective: Polycystic Ovary Syndrome and depict the clinical prole of young adults (18-24 years) with Polycystic Ovary syndrome. A cross- Methods: sectional study of all the nursing students aged 18-24 years in Thiruvananthapuram District was conducted to self-screen for Polycystic Ovary Syndrome and Rotterdam criteria were applied. The study group comprised 529 subjects who were diagnosed to have the syndrome. The clinical and ultrasonographic characteristics and anthropometric variables of the study group were estimated and compared with 399 young adults without Polycystic Ovary Syndrome. Variables were expressed in terms of frequenci Statistical Analyses: es for categorical and mean (± SD) for continuous variables. Chi-square test was used for categorical and t- test for continuous variables. The prevalence of Polycystic Ovary Results: Syndrome was 13.1%. Irregular periods was seen in 74.7%, hirsutism in 57.1%, acne in 37.1%, acanthosis nigricans in 51% and alopecia in 2.5%. Overweight and obesity were found in 30.8%, increased waist circumference in 16.1% and hypertension in 27.8%. Polycystic Conclusion: Ovary Syndrome is a clinically heterogenous condition with an increased prevalence of irregular periods, hirsutism, acne and acanthosis. Overweight and obesity are signicantly increased. A younger age group of late adolescents or young adults is ideal to screen for the syndrome and institute lifestyle intervention to prevent metabolic problems.

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Circulating Endothelial Progenitor Cells and Their Relation to Thrombosis in Paroxysmal Nocturnal Hemoglobinuria

Blood ◽

10.1182/blood.v126.23.4535.4535 ◽

2015 ◽

Vol 126 (23) ◽

pp. 4535-4535

Author(s):

Esra Turan Erkek ◽

Esra Nazligul ◽

Meliha Nalcaci ◽

Melih Aktan ◽

Mustafa Nuri Yenerel

Keyword(s):

Aplastic Anemia ◽

Progenitor Cells ◽

Endothelial Progenitor Cells ◽

Control Group ◽

Endothelial Progenitor ◽

Chi Square ◽

Hematopoietic Stem ◽

Significant Difference ◽

Chi Square Test ◽

History Of

Abstract Introduction: Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder. Chronic intravascular hemolytic anemia, bone marrow failure and thrombophilia are the main clinical findings. Thrombosis is one of the most important cause of morbidity and mortality of this disease. Multiple factors are held responsible for thrombotic tendency in these patients. Endothelial progenitor cells (EPCs) originate from primitive hematopoietic stem cells and are able to turn into endothelial cells. There are extremely small numbers of EPCs in the circulation under normal conditions. The level of EPCs is considered to be indicative of restoration capacity in case of vascular disease and potential damage. Lower EPC levels are also considered as a risk factor in cardiovascular diseases. In this study, our aim was to investigate circulating EPCs in PNH and their relationship with thrombosis. Seventeen patients with PNH, 18 patients with aplastic anemia and 10 healthy volunteers were included in the study. CD309, CD133 and CD34 antibodies were used in order to determine circulating EPCs by flow cytometry and cells which expressed all three antibodies were analyzed as EPC. Prepared samples were read using a prepared list mode software for endothelial progenitor cells on FACS Diva software in BD FACS Canto II device with 6 color lasers and a total of 1,000,000 cells per analysis were evaluated. EPC levels were compared between untreated PNH patients and who were on eculizumab therapy. Statistical analysis was performed using SPSS 22.0 software. The distribution of variables was evaluated by Kolmogorov-Smirnov test, the analysis of quantitative data was evaluated by ANOVA, Kruskal-Wallis, Mann-Whitney U tests and the analysis of the qualitative data was evaluated by chi-square test. Findings and Discussion: The thrombotic complications were observed in five PNH patients. All of these patients had a history of portal vein thrombosis. One of them also had a history of peripheral arterial disease and amputation related to this. There was not a significant difference in EPC levels between patients with and without a history of thrombosis (p>0,05). We also did not find any significant difference between levels of EPC's in PNH groups with or without eculizumab therapy (p˃0,05). There was no significant difference in levels of EPC between aplastic anemia and PNH groups (p ˃ 0,05). However, we found a significant positive correlation between the levels of EPC and LDH in multivariate analysis (p < 0,05). This finding suggests that hemolysis causes vascular endothelium and promotes new blood vessel formations. Increased EPCs in PNH might be an indirect indicator for vascular endothelium damage in PNH. Table. General Features and Rates of EPC of PNH, AA, Healthy Volunteers Groups Aplastic Anemia group PNH group Control group p Age mean±s.smedian (min-max) 40.0±14.7 37.5 (20.0-67.0) 41.9±13.9 43.0 (19.0-78.0) 29.3±3.5 29.5(24.0-34.0) 0.047 Sex Female n-% Male n-% 7 38,9% 11 61.1% 9 52.9% 8 47.1% 5 50% 5 50% 0.687 EPC(%) mean±s.s median (min-max) 0.2% 0.2% 0.1% (0.0-0.6%) 0.3%±0.3% 0.1% (0.0-0.9%) 0.1%±0.0% %0,0(%0,0-0,2) 0.393 All Events (x1000) mean±s.s median (min-max) 617±172* 565 (360-914) 588±255* 471 (250-1000) 878±143 950(655-1000) 0.003 CD309 and CD34 mean±s.s median (min-max) 0.003±0.002 0.002 (0.001-0.007) 0.005±0.004 0.000-0.011) 0.001±0.001 0.001 (0.000-0.002) 0.009 CD133 mean±s.s median (min-max) 45.8±36.3 58.3 (0.0-88.2) 45.8±39.6 60 (0.0-94.7) 42.0±19.4 46.4 (11.1-81.3) 0.867 ANOVA / Kruskal-Wallis / Mann-Whitney U test / Chi-square test *The difference with the control group, p <0.05 EPCs: Endothelial progenitor cells Disclosures Yenerel: Alexion: Membership on an entity's Board of Directors or advisory committees, Speakers Bureau.

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ANALISIS FAKTOR RISIKO YANG BERHUBUNGAN DENGAN KEJADIAN PLASENTA PREVIA

JURNAL KEDOKTERAN ◽

10.36679/kedokteran.v6i2.338 ◽

2021 ◽

Vol 6 (2) ◽

pp. 100

Author(s):

Nurul Huda Mursalim ◽

Saharuddin Saharuddin ◽

Azizah Nurdin ◽

Jelita Inayah Sari

Keyword(s):

Risk Factors ◽

Caesarean Section ◽

Pregnant Women ◽

Placenta Previa ◽

Case Control ◽

Control Group ◽

Chi Square ◽

Purposive Sampling ◽

Chi Square Test ◽

History Of

Tujuan penelitian ini adalah untuk mengetahui hubungan variabel dependen yaitu umur, paritas, riwayat sectio sesarea, riwayat gemelli dengan variabel independen yaitu plasenta previa di RSUD Batara Guru dan RS Hikmah Sejahtera Kabupaten Luwu Tahun 2018-2019. Pada studi ini memanfaatkan metode analitik observasional dengan pendekatan case control. Sampel ditentukan melalui perbandingan kelompok kasus sebanyak 50 sampel dengan kelompok kontrol 50 sampel. Teknik sampling menggunakan purposive sampling. Untuk mengetahui hubungan faktor risiko memanfaatkan uji chi square. Hasil terbanyak didapatkan 78 ibu hamil risiko rendah, 76 ibu hamil dengan multipara, ibu hamil dengan tidak ada riwayat sectio sesarea didapatkan 76 ibu hamil dan ibu yang tidak memiliki riwayat gemelli ada 97 ibu hamil. Hasil penelitian menujukkan dari uji chi square antara umur dengan plasenta previa didapatkan (P= 0.008 < 0,05) untuk hubungan paritas dengan plasenta previa didapatkan (P= 0,815 > 0,05) hubungan riwayat sectio sesarea didapatkan sebesar (P= 0.035 < 0,05) dan untuk hubungan riwayat gemelli sebesar (P= 1,000 > 0,05). Kesimpulan dari penelitian ini adalah tidak terdapat hubungan faktor risiko paritas, riwayat gemelli pada kejadian plasenta previa dan didapatkan hubungan faktor risiko antara umur, riwayat sectio sesarea dengan kejadian plasenta previa di RSUD Batara Guru dan RS Hikmah Sejahtera Kabupaten Luwu Tahun 2018-2019. Kata kunci: Umur, paritas, riwayat sectio sesarea, riwayat gemelli, plasenta previa ABSTRACTThe major objective of this study was to investigate the risk factors that affect the occurrences of placenta previa, such as ages, parity, caesarean section history, and gemelli history of pregnant women. This study was conducted at Batara Guru Hospital and Hikmah Sejahtera Hospital of Luwu Regency in 2018 to 2019. The methodological approach taken in this study was observational analytic by using a case control approach. The samples used in this research consisted of 50 samples for the case group and 50 samples for the control group. The sampling technique used was a purposive sampling. A chi square test was performed in this experiment in order to understand the risk factors. From this research, it was apparent that 78 pregnant women were with the low risk of getting placenta previa, 76 pregnant women were with multiparous, 76 pregnant women were with no history of cesarean section, and 79 pregnant women were without a gemelli history. Based on the chi square test, the results of this study indicated that various relationships were obtained such as the relationship between ages and placenta previa occurrences with (P = 0.008 <0.05), the correlation among parity and placenta previa occurrences with (P = 0.815> 0.05), the correlation among caesarean section history and placenta previa occurrences with (P = 0.035 <0,05), and the correlation among gemelli history and placenta previa occurrences with (P = 1,000> 0.05). This research concludes that there was no relationship between parity and gemelli history factors and the occurrences of placenta previa. In contrast, it was evident that there were close relationships between the ages and caesarean section history factors and the occurrences of placenta previa at Batara Guru Hospital and Hikmah Sejahtera Hospital of Luwu Regency in 2018 to 2019.Keywords: ages, parity, caesarean sectio history, gemelli history, placenta previa

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Association of SNP rs700519 in CYP19A1 Gene with Polycystic Ovary Syndrome (PCOS) Among Females of Quetta, Pakistan

International Journal of Human Genetics ◽

10.31901/24566330.2021/21.03.782 ◽

2021 ◽

Vol 21 (03) ◽

Author(s):

Rozeena Shaikh

Keyword(s):

Polycystic Ovary Syndrome ◽

Polycystic Ovary ◽

Cross Sectional Study ◽

Control Group ◽

Ovary Syndrome ◽

Chi Square ◽

Cross Sectional ◽

Significant Difference ◽

Reproductive Disorder ◽

Pcos Group

ABSTRACT Polycystic Ovary Syndrome (PCOS) is endocrine reproductive disorder which causes oligomenorrhea/ amenorrhea, infertility, type II diabetes. The present study aims in CYP19A1 polymorphism rs700519 (C/T) identification that elevates androgen among PCOS females in Quetta, Pakistan. Cross-sectional study involved enrollment of 100 control and 100 affected females. Blood samples were collected for genetic and hormonal analysis. The samples were amplified via ARMS PCR and analyzed by sequencing. The frequency of CC genotype in control and PCOS group was 48 percent and 33 percent. For CT, it was 52 percent and 67 percent. In control group, the allele frequency for C and T was 0.74 and 0.26. In PCOS group, it was 0.67 and 0.33 for C and T, respectively. The Pearson Chi-Square p=0.031 (p<0.05) at 95% Confidence Interval inferred a significant difference between the observed genotypes. The study inferred that CT genotype is a risk factor for PCOS progression in the population of Quetta.

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FAKTOR YANG BERHUBUNGAN DENGAN KEJADIAN PERSALINAN PREMATUR DI RSUD DR SOETOMO

Indonesian Midwifery and Health Sciences Journal ◽

10.20473/imhsj.v3i1.2019.85-97 ◽

2021 ◽

Vol 3 (1) ◽

pp. 85

Author(s):

Noza Loviana ◽

Ninik Darsini ◽

Aditiawarman Aditiawarman

Keyword(s):

Random Sampling ◽

Preterm Labor ◽

Maternal Age ◽

Maternal Education ◽

Case Control ◽

Control Group ◽

Chi Square ◽

Chi Square Test ◽

History Of ◽

Maternal Occupation

AbstrakLatar Belakang: Secara global, persalinan preterm menjadi penyebab utama kematian neonatus usia dini 0-7 hari pertama kehidupan dengan menimbulkan dampak morbiditas yang tinggi juga. Indonesia menempati urutan negara ke 5 estimasi persalinan preterm tertinggi di dunia. Beberapa faktor yang dapat berpengaruh terhadap persalinan preterm yaitu idiopatik, iatrogenik, sosio-demografi, maternal dan genetik. Penelitian ini bertujuan untuk melihat hubungan antara usia ibu, pendidikan ibu, pekerjaan ibu dan riwayat persalinan preterm terhadap kejadian persalinan prterm di RSUD Dr. Soetomo Surabaya. Metode: Metode penelitian ini adalah analitik observasional dengan rancang bangun case control. Jumlah populasi sebanyak 1311 orang pada periode 1 Januari - 31 Desember 2018. Sampel dibagi dalam dua kelompok yaitu kelompok kasus (ibu yang bersalin preterm) dan kelompok kontrol (ibu yang bersalin tidak preterm) sebanyak masing-masing kelompok 137 orang yang disesuaikan dengan kriteria inklusi dan eksklusi dan berdasarkan teknik pengambilan sampel yaitu simpel random sampling. Variabel independen terdiri dari usia ibu, pendidikan, pekerjaan dan riwayat persalinan preterm sedangkan variabel dependen adalah persalinan preterm. Analisis data bivariat menggunankan uji Chi-Square test dengan taraf signifikansi α = 0,05 (95% CI). Hasil: Hasil uji Chi-Square menunjukkan bahwa tidak ada hubungan bermakna antara usia ibu bersalin (nilai p = 0,259), pendidikan (nilai p = 1), pekerjaan (nilai p = 0,225) dan riwayat persalinan preterm (nilai p = 0,191) dengan kejadian persalinan preterm. Kesimpulan: Faktor risiko seperti usa ibu bersalin, pendidikan ibu, pekerjaan ibu dan riwayat persalinan preterm tidak memiliki hubungan terhadap kejadian persalinan preterm. Abtract Background : Globally, preterm labor is the main cause of neonatal mortality in the first 0-7 days of life with a high impact of morbidity. Indonesia ranks 5th in the highest estimate of preterm labor in the world. Several factors that can influence preterm labor are idiopathic, iatrogenic, socio-demographic, maternal and genetic. This study aims to look at the relationship between maternal age, maternal education, maternal occupation and a history of preterm labor against the incidence of prenatal labor in RSUD Dr. Soetomo Surabaya. Method : The method of this study is observational analytic with a case-control design. The total population is 1311 people in the period January 1 - December 31, 2018. Samples were divided into two groups, namely the case group (preterm maternity) and the control group (mothers who were not preterm) as many as 137 groups each according to the inclusion criteria and exclusion and based on sampling techniques, namely simple random sampling. Independent variables consisted of maternal age, education, occupation and a history of preterm labor while the dependent variable was preterm labor. Bivariate data analysis used the Chi-Square test with a significance level of α = 0.05 (95% CI). Results : The Chi-Square test results showed that there was no significant relationship between maternal age (p = 0.259), education (p = 1), employment (p = 0.225) and preterm labor history (p = 0.191) with the incidence of preterm labor. Conclusion: Risk factors such as maternal age, maternal education, maternal occupation and a history of preterm labor have no relationship to the incidence of preterm labor.

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Hubungan antara Frekuensi dan Durasi Diare dengan Kejadian Stunting pada Balita Usia 24-36 Bulan di Desa Kedungrejo Kecamatan Pakis

Journal Of Issues In Midwifery ◽

10.21776/ub.joim.2020.004.03.4 ◽

2020 ◽

Vol 4 (3) ◽

pp. 131-141

Author(s):

Zakiya Miladya Choiroh ◽

◽

Era Nurisa Windari ◽

Astri Proborini ◽

◽

...

Keyword(s):

The Body ◽

Bivariate Analysis ◽

Control Group ◽

Case Group ◽

Validity And Reliability ◽

Chi Square ◽

Group Data ◽

Chi Square Test ◽

History Of ◽

Fluid Levels

Stunting is a condition where there a disruption of growth in body length or height that not by age. A history of infectious diseases are one of the direct factors that can cause this condition. Diarrhea is an infectious disease which if occurs continuously can cause a significant decrease in fluid levels in the body, causing interference in the absorption of nutrients. This study aimed to analyze the relationship between the frequency and duration of diarrhea with the incidence of stunting in children aged 24-36 months. The study used a case control design with the subjects of the case group was stunting toddlers with their mother while the control group was non-stunting toddlers with their mother in Kedungrejo village, District of Pakis with a total of 24 for each group. Data was collected by anthropometric measurements in toddlers and mothers were interviewed using a diarrhea history questionnaire that had been tested for validity and reliability. The bivariate analysis used Chi-Square test. The results showed that from of 48 subjects, the percentage of toddlers aged 24-36 months who had a history of frequent diarrhea frequency was 14,5% (7 children) and the percentage of toddlers who had a mean duration of long diarrhea was 33,3% (16 children). Statistical test results showed that frequency of diarrhea was not significantly related (p = 1,000) but increased the risk of stunting by 1,4 times, while the duration of diarrhea was significantly related (p = 0,030) and increased the risk of stunting by 5,0 times. It can be suggested that counseling is needed to provide information to the public about the first aid of diarrhea in toddlers as to minimize delays in treatment and reduce the risk of stunting.

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Association of SNP rs700519 in CYP19A1 Gene with Polycystic Ovary Syndrome (PCOS) Among Females of Quetta, Pakistan

International Journal of Human Genetics ◽

10.31901/24566330.2021/21.02.782 ◽

2021 ◽

Vol 21 (02) ◽

Author(s):

Rozeena Shaikh

Keyword(s):

Polycystic Ovary Syndrome ◽

Polycystic Ovary ◽

Cross Sectional Study ◽

Control Group ◽

Ovary Syndrome ◽

Chi Square ◽

Cross Sectional ◽

Significant Difference ◽

Reproductive Disorder ◽

Pcos Group

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Differences of Born Body Length, History of Infectious Diseases, and Development between Stunting and Non-Stunting Toddlers

Jurnal Berkala Epidemiologi ◽

10.20473/jbe.v6i22018.182-191 ◽

2018 ◽

Vol 6 (2) ◽

pp. 182

Author(s):

Dewi Fitria Permatasari ◽

Sri Sumarmi

Keyword(s):

Infectious Diseases ◽

Body Length ◽

Sampling Technique ◽

Simple Random Sampling ◽

Control Group ◽

Case Group ◽

Chi Square ◽

Chi Square Test ◽

History Of ◽

Inadequate Nutrition

ABSTRACTBackground: Stunting reflects the largely result of inadequate nutrition and attacks recurring infections in the first 1.000 days of life, that cause in develepmental obstacles. Purpose: This study was to analyze the differences born body length, history of infectious diseases, development between stunting, and non stunting children age 24-36 months. Methods: The type of this research was observational analytic with case control study. The sample size was 68 toddlers consist of 34 stunting childrens as case group and 34 non stunting children as control group in the catchment area of Jagir Public Helath Center in Surabaya. Sampling technique using simple random sampling. The observed variabls were born body length, history of infectious diseases, and child development. The data were collected using microtoise, questionnaire, and Denver Developmental Screening Test (DDST) sheets. Data were analyzed using chi square test. Results: This research showed significancy between stunting and non stunting children with difference of born body length (p = 0,01), history of infectious diseases (p = 0,01), and toddlers’ development (p = 0,01). Conclusion: There were difference variables of born body length, history of infectious diseases, and development between stunting and non stunting children age 24-36 months.

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Higher G allele frequency of RET C2307t>G polymorphism in female patients with Hirschsprung disease in Yogyakarta, Indonesia

Paediatrica Indonesiana ◽

10.14238/pi48.2.2008.88-92 ◽

2008 ◽

Vol 48 (2) ◽

pp. 88 ◽

Cited By ~ 1

Author(s):

Ahmad Hamim Sadewa ◽

Saryono Saryono ◽

Rochadi Rochadi ◽

Wiryatun Lestariana ◽

Wayan T Artama

Keyword(s):

Genetic Disorder ◽

Hirschsprung Disease ◽

Control Group ◽

Chi Square ◽

Female Ratio ◽

Significant Difference ◽

Chi Square Test ◽

History Of ◽

Hscr Patient ◽

Research Show

Background Hirschsprung disease (HSCR) is a heterogenouscongenital disorder and the current research show that the RETgene is a major locus involved in its pathogenesis. However,whether these genes take a part in sporadically Indonesian HSCRhave not been fully understood.Objective The aim of this study was to analyze the association ofRET gene c2307T>G polymorphism among HSCR patient inYogyakarta population.Methods Genomic DNA was extracted from bowel tissues of 34patients with sporadic HSCR which were removed by surgery ascase group and blood DNA from 46 healthy persons as controlgroup without history of genetic disorder. Exon 13 of RET genewas amplified by polymerase chain reaction (PCR) and wasanalyzed by restriction fragment length polymorphism (RFLP).Results Of 34 patients, 22 were males and 12 were females, givingmale to female ratio of 1.83:1. The c2307T>G polymorphism inRET exon 13 was not significantly difference between patientand control group (chi-square test P=0.17). However, there wasa significant difference in female patient compare with control(chi-square test P=0,04).Conclusion The RET gene c2307T>G polymorphism was foundamong HSCR patient in Yogyakarta population. This poly-morphism can be used as predictor for development of HSCRamong female individual.

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