Genetic study of SPINK1 and PRSS1 in idiopathic chronic pancreatitis and allele frequencies of SPINK1 and PRSS1 in the southern Thai population
Certain cases of chronic pancreatitis (CP) occur without an apparent causative factor, diagnosed as idiopathic CP (ICP). Several studies have reported that ICP was associated with mutations in the SPINK1 and PRSS1 genes, but the studies were not conclusive as these polymorphisms can also occur in...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Prince of Songkla University
2021-12-01
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| Series: | Songklanakarin Journal of Science and Technology (SJST) |
| Subjects: | |
| Online Access: | https://rdo.psu.ac.th/sjst/journal/43-6/27.pdf |
| _version_ | 1818208212711636992 |
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| author | Putthimet Lekhakul Promin Wison Laochareonsuk Nisa Netinatsunton Supika Kritsaneepaiboon Surasak Sangkhathat |
| author_facet | Putthimet Lekhakul Promin Wison Laochareonsuk Nisa Netinatsunton Supika Kritsaneepaiboon Surasak Sangkhathat |
| author_sort | Putthimet Lekhakul Promin |
| collection | DOAJ |
| description | Certain cases of chronic pancreatitis (CP) occur without an apparent causative factor, diagnosed as idiopathic CP (ICP).
Several studies have reported that ICP was associated with mutations in the SPINK1 and PRSS1 genes, but the studies were not
conclusive as these polymorphisms can also occur in healthy individuals. In the present study, we aimed to study the genotypes
of SPINK1 and PRSS1. Our study recruited nine ICP patients having no known risk factors. Symptoms relating to ICP were
recorded. Genetic studies were performed in all ICP patients and 230 healthy controls. SPINK1 mutations in cases and controls
were genotyped by genotyping assay. The entire PRSS1 gene was sequenced in all cases and controls to look for any mutations.
Statistical analysis of genotypes and minor allele frequencies (MAF) was performed. All of the 9 ICP patients had SPINK1
mutations. The SPINK1 N34S heterozygous mutation (MAF 2.17%) was detected in 10 out of 230 controls, while the
IVS3+2T>C mutation was not detected in any. PRSS1 mutations were detected in no cases or controls. In summary, SPINK1
mutations were associated with ICP. SPINK1 N34S carrier status was found in the general population with low prevalence, while
IVS3+2T>C was rarely found in the controls. |
| first_indexed | 2024-12-12T04:41:14Z |
| format | Article |
| id | doaj.art-e0f7f224801a4e178b6bd3fd888ab3e6 |
| institution | Directory Open Access Journal |
| issn | 0125-3395 |
| language | English |
| last_indexed | 2024-12-12T04:41:14Z |
| publishDate | 2021-12-01 |
| publisher | Prince of Songkla University |
| record_format | Article |
| series | Songklanakarin Journal of Science and Technology (SJST) |
| spelling | doaj.art-e0f7f224801a4e178b6bd3fd888ab3e62022-12-22T00:37:49ZengPrince of Songkla UniversitySongklanakarin Journal of Science and Technology (SJST)0125-33952021-12-014361736174210.14456/sjst-psu.2021.227Genetic study of SPINK1 and PRSS1 in idiopathic chronic pancreatitis and allele frequencies of SPINK1 and PRSS1 in the southern Thai populationPutthimet Lekhakul Promin0Wison Laochareonsuk1Nisa Netinatsunton2Supika Kritsaneepaiboon3Surasak Sangkhathat4Saengthong Vitthaya School, Hat Yai, Songkhla, 90110 ThailandDepartment of Biomedical Science and Translational Medicine Research Center, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkhla, 90110 ThailandNKC Institute of Gastroenterology and Hepatology, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkhla, 90110 ThailandDepartment of Radiology, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkhla, 90110 ThailandDepartment of Surgery and Translational Medicine Research Center, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkhla, 90110 ThailandCertain cases of chronic pancreatitis (CP) occur without an apparent causative factor, diagnosed as idiopathic CP (ICP). Several studies have reported that ICP was associated with mutations in the SPINK1 and PRSS1 genes, but the studies were not conclusive as these polymorphisms can also occur in healthy individuals. In the present study, we aimed to study the genotypes of SPINK1 and PRSS1. Our study recruited nine ICP patients having no known risk factors. Symptoms relating to ICP were recorded. Genetic studies were performed in all ICP patients and 230 healthy controls. SPINK1 mutations in cases and controls were genotyped by genotyping assay. The entire PRSS1 gene was sequenced in all cases and controls to look for any mutations. Statistical analysis of genotypes and minor allele frequencies (MAF) was performed. All of the 9 ICP patients had SPINK1 mutations. The SPINK1 N34S heterozygous mutation (MAF 2.17%) was detected in 10 out of 230 controls, while the IVS3+2T>C mutation was not detected in any. PRSS1 mutations were detected in no cases or controls. In summary, SPINK1 mutations were associated with ICP. SPINK1 N34S carrier status was found in the general population with low prevalence, while IVS3+2T>C was rarely found in the controls.https://rdo.psu.ac.th/sjst/journal/43-6/27.pdfidiopathic chronic pancreatitissingle nucleotide polymorphismsspink1prss1 |
| spellingShingle | Putthimet Lekhakul Promin Wison Laochareonsuk Nisa Netinatsunton Supika Kritsaneepaiboon Surasak Sangkhathat Genetic study of SPINK1 and PRSS1 in idiopathic chronic pancreatitis and allele frequencies of SPINK1 and PRSS1 in the southern Thai population Songklanakarin Journal of Science and Technology (SJST) idiopathic chronic pancreatitis single nucleotide polymorphisms spink1 prss1 |
| title | Genetic study of SPINK1 and PRSS1 in idiopathic chronic pancreatitis and allele frequencies of SPINK1 and PRSS1 in the southern Thai population |
| title_full | Genetic study of SPINK1 and PRSS1 in idiopathic chronic pancreatitis and allele frequencies of SPINK1 and PRSS1 in the southern Thai population |
| title_fullStr | Genetic study of SPINK1 and PRSS1 in idiopathic chronic pancreatitis and allele frequencies of SPINK1 and PRSS1 in the southern Thai population |
| title_full_unstemmed | Genetic study of SPINK1 and PRSS1 in idiopathic chronic pancreatitis and allele frequencies of SPINK1 and PRSS1 in the southern Thai population |
| title_short | Genetic study of SPINK1 and PRSS1 in idiopathic chronic pancreatitis and allele frequencies of SPINK1 and PRSS1 in the southern Thai population |
| title_sort | genetic study of spink1 and prss1 in idiopathic chronic pancreatitis and allele frequencies of spink1 and prss1 in the southern thai population |
| topic | idiopathic chronic pancreatitis single nucleotide polymorphisms spink1 prss1 |
| url | https://rdo.psu.ac.th/sjst/journal/43-6/27.pdf |
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