Saskia L Nasroen, Tichvy Tammama, Rudi S Darwis, Almira Adil, Silvia Rahmutia, Ani Melani Maskoen, Basri A Gani
{"title":"IRF6 rs2013162 和 MTHFR A1298C rs1801131 基因多态性与印度尼西亚 Deutero-Malay 人非综合征性唇腭裂的关系。","authors":"Saskia L Nasroen, Tichvy Tammama, Rudi S Darwis, Almira Adil, Silvia Rahmutia, Ani Melani Maskoen, Basri A Gani","doi":"10.1177/10556656231191003","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to identify risk factors for NSCLP by analyzing polymorphisms in <i>IRF6</i> rs2013162 and <i>MTHFR</i> A1298C rs1801131 in the Deutero Malay Population in Indonesia.</p><p><strong>Setting: </strong>DNA isolation from venous blood samples was done followed by PCR and PCR-RFLPs method.</p><p><strong>Patients/participants: </strong>115 NSCLP subjects and 120 healthy control subjects.</p><p><strong>Main outcome measure(s): </strong>The odds ratio (OR) determined to evaluate the risk factors is the main outcome measure.</p><p><strong>Material and methods: </strong>The study is a case-control design using samples from the venous blood of 115 NSCLP subjects and 120 healthy control subjects. After DNA was extracted, the PCR-RFLPs method was performed using the DdeI restriction enzyme on 100 blood samples of the <i>IRF6</i> rs2013162 group and Mboll restriction enzyme on 135 blood samples of the <i>MTHFR</i> A1298C rs1801131 group. The Chi-Square test was used with the Exact Fisher alternatives, depending on the expected count value.</p><p><strong>Results: </strong>The results showed that the T mutant allele (OR = 4.125, <i>P</i> < .05) and GT genotype (OR = 21.00, <i>P</i> < .05) of <i>IRF6</i> rs2013162 and the C mutant allele (OR = 3.781, <i>P</i> < .05), AC genotype (OR = 5, <i>P</i> < .05) and CC genotype (OR = 9,681, <i>P</i> < .05) of the <i>MTHFR</i> A1298C is associated to a greater risk of NSCLP.</p><p><strong>Conclusions: </strong><i>IRF6</i> rs2013162 and <i>MTHFR</i> A1298C rs1801131 gene polymorphisms are strongly associated with NSCLP among the Deutero Malay population in the Indonesian population.</p>","PeriodicalId":55255,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The <i>IRF6</i> rs2013162 and <i>MTHFR</i> A1298C rs1801131 Gene Polymorphisms Related to non-Syndromic Cleft lip and Palate among Deutero-Malay in Indonesia.\",\"authors\":\"Saskia L Nasroen, Tichvy Tammama, Rudi S Darwis, Almira Adil, Silvia Rahmutia, Ani Melani Maskoen, Basri A Gani\",\"doi\":\"10.1177/10556656231191003\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>This study aimed to identify risk factors for NSCLP by analyzing polymorphisms in <i>IRF6</i> rs2013162 and <i>MTHFR</i> A1298C rs1801131 in the Deutero Malay Population in Indonesia.</p><p><strong>Setting: </strong>DNA isolation from venous blood samples was done followed by PCR and PCR-RFLPs method.</p><p><strong>Patients/participants: </strong>115 NSCLP subjects and 120 healthy control subjects.</p><p><strong>Main outcome measure(s): </strong>The odds ratio (OR) determined to evaluate the risk factors is the main outcome measure.</p><p><strong>Material and methods: </strong>The study is a case-control design using samples from the venous blood of 115 NSCLP subjects and 120 healthy control subjects. After DNA was extracted, the PCR-RFLPs method was performed using the DdeI restriction enzyme on 100 blood samples of the <i>IRF6</i> rs2013162 group and Mboll restriction enzyme on 135 blood samples of the <i>MTHFR</i> A1298C rs1801131 group. The Chi-Square test was used with the Exact Fisher alternatives, depending on the expected count value.</p><p><strong>Results: </strong>The results showed that the T mutant allele (OR = 4.125, <i>P</i> < .05) and GT genotype (OR = 21.00, <i>P</i> < .05) of <i>IRF6</i> rs2013162 and the C mutant allele (OR = 3.781, <i>P</i> < .05), AC genotype (OR = 5, <i>P</i> < .05) and CC genotype (OR = 9,681, <i>P</i> < .05) of the <i>MTHFR</i> A1298C is associated to a greater risk of NSCLP.</p><p><strong>Conclusions: </strong><i>IRF6</i> rs2013162 and <i>MTHFR</i> A1298C rs1801131 gene polymorphisms are strongly associated with NSCLP among the Deutero Malay population in the Indonesian population.</p>\",\"PeriodicalId\":55255,\"journal\":{\"name\":\"Cleft Palate-Craniofacial Journal\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2024-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Cleft Palate-Craniofacial Journal\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1177/10556656231191003\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/8/2 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"DENTISTRY, ORAL SURGERY & MEDICINE\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cleft Palate-Craniofacial Journal","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/10556656231191003","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/8/2 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"DENTISTRY, ORAL SURGERY & MEDICINE","Score":null,"Total":0}
The IRF6 rs2013162 and MTHFR A1298C rs1801131 Gene Polymorphisms Related to non-Syndromic Cleft lip and Palate among Deutero-Malay in Indonesia.
Objective: This study aimed to identify risk factors for NSCLP by analyzing polymorphisms in IRF6 rs2013162 and MTHFR A1298C rs1801131 in the Deutero Malay Population in Indonesia.
Setting: DNA isolation from venous blood samples was done followed by PCR and PCR-RFLPs method.
Patients/participants: 115 NSCLP subjects and 120 healthy control subjects.
Main outcome measure(s): The odds ratio (OR) determined to evaluate the risk factors is the main outcome measure.
Material and methods: The study is a case-control design using samples from the venous blood of 115 NSCLP subjects and 120 healthy control subjects. After DNA was extracted, the PCR-RFLPs method was performed using the DdeI restriction enzyme on 100 blood samples of the IRF6 rs2013162 group and Mboll restriction enzyme on 135 blood samples of the MTHFR A1298C rs1801131 group. The Chi-Square test was used with the Exact Fisher alternatives, depending on the expected count value.
Results: The results showed that the T mutant allele (OR = 4.125, P < .05) and GT genotype (OR = 21.00, P < .05) of IRF6 rs2013162 and the C mutant allele (OR = 3.781, P < .05), AC genotype (OR = 5, P < .05) and CC genotype (OR = 9,681, P < .05) of the MTHFR A1298C is associated to a greater risk of NSCLP.
Conclusions: IRF6 rs2013162 and MTHFR A1298C rs1801131 gene polymorphisms are strongly associated with NSCLP among the Deutero Malay population in the Indonesian population.
期刊介绍：
The Cleft Palate-Craniofacial Journal (CPCJ) is the premiere peer-reviewed, interdisciplinary, international journal dedicated to current research on etiology, prevention, diagnosis, and treatment in all areas pertaining to craniofacial anomalies. CPCJ reports on basic science and clinical research aimed at better elucidating the pathogenesis, pathology, and optimal methods of treatment of cleft and craniofacial anomalies. The journal strives to foster communication and cooperation among professionals from all specialties.
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