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Genetic mechanisms underlying the pathogenesis of tropical calcific pancreatitis

World Journal of Gastroenterology 2009年第3期15卷 264-269页

作者： swapna mahurkar D Nageshwar Reddy G Venkat Rao Giriraj Ratan Chandak Asian Institute of Gastroenterology 6-3-661SomajigudaHyderabad 500082India Genome Research Group Centre for Cellular and Molecular BiologyUppal RoadHyderabad 500007India

Chronic pancreatitis is known to be a heterogeneous disease with varied *** calcific pancreatitis(TCP) is a severe form of chronic pancreatitis unique to developing *** growing evidence of genetic factors contributing to the pathogenesis of TCP,this review is aimed at compiling the available information in this *** also propose a two hit model to explain the sequence of events in the pathogenesis of TCP.

关键词： Chronic pancreatitis Tropical calcific pancreatitis Fibrocalculous pancreatic diabetes Complex disease Candidate gene analysis

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Comprehensive screening for reg1α gene rules out association with tropical calcific pancreatitis

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World Journal of Gastroenterology 2007年第44期13卷 5938-5943页

作者： swapna mahurkar Seema Bhaskar D Nageshwar Reddy G Venkat Rao Giriraj Ratan Chandak Genome Research Group Centre for Cellular and Molecular Biology Uppal Road Hyderabad 500 007 India Asian Institute of Gastroenterology Punjagutta Hyderabad 500 082 India

AIM: To investigate the allelic and haplotypic association of reg1α gene with tropical calcific pancreatitis (TCP). Since TCP is known to have a variable genetic basis, we investigated the interaction between mutations in the susceptibility genes, SPINK1 and CTSB with reg1α polymorphisms. METHODS: We analyzed the polymorphisms in the reg1α gene by sequencing the gene including its promoter region in 195 TCP patients and 150 ethnically matched controls, compared their allele and haplotype frequencies, and their association with the pathogenesis and pancreaticolithiasis in TCP and fibro-calculous pancreatic diabetes. RESULTS: We found 8 reported and 2 novel polymo-rphisms including an insertion-deletion polymorphism in the promoter region of reg1α. None of the 5' UTR variants altered any known transcription factor binding sites, neither did any show a statistically significant association with TCP. No association with any reg1α variants was observed on dichotomization of patients based on their N34S SPINK1 or L26V CTSB status. CONCLUSION: Polymorphisms in reg1α gene, including the regulatory variants singly or in combination with the known mutations in SPINK1 and/or CTSB genes, are not associated with tropical calcific pancreatitis.

关键词： Tropical calcific pancreatitis Lithostathine Stone formation Polymorphism Haplotype

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