Polymorphism and Expression Profile of Cholecystokinin Type A Receptor in Relation to Gallstone Disease Susceptibility

In the present study, we investigated expression pattern of Cholecystokinin type A receptor (CCKAR) in relation to its commonly studied polymorphism (rs1800857, T/C) in gallstone disease (GSD) patients and controls. A total of 502 subjects (272 GSD and 230 controls) were enrolled, and genotyping was...

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Veröffentlicht in:Biochemical genetics 2016-10, Vol.54 (5), p.665-675
Hauptverfasser: Kazmi, Hasan Raza, Chandra, Abhijit, Nigam, Jaya, Baghel, Kavita, Srivastava, Meenu, Maurya, Shailendra S., Parmar, Devendra
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container_end_page 675
container_issue 5
container_start_page 665
container_title Biochemical genetics
container_volume 54
creator Kazmi, Hasan Raza
Chandra, Abhijit
Nigam, Jaya
Baghel, Kavita
Srivastava, Meenu
Maurya, Shailendra S.
Parmar, Devendra
description In the present study, we investigated expression pattern of Cholecystokinin type A receptor (CCKAR) in relation to its commonly studied polymorphism (rs1800857, T/C) in gallstone disease (GSD) patients and controls. A total of 502 subjects (272 GSD and 230 controls) were enrolled, and genotyping was performed by evaluating restriction fragments of PstI digested DNA. For analyzing expression pattern of CCKAR in relation to polymorphism, gallbladder tissue samples from 80 subjects (GSD—55; control—25) were studied. Expression of CCKAR mRNA was evaluated by reverse transcriptase-PCR and confirmed using real-time PCR. Protein expression was evaluated by enzyme-linked immunosorbent assay. We observed significantly ( p  
doi_str_mv 10.1007/s10528-016-9745-x
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A total of 502 subjects (272 GSD and 230 controls) were enrolled, and genotyping was performed by evaluating restriction fragments of PstI digested DNA. For analyzing expression pattern of CCKAR in relation to polymorphism, gallbladder tissue samples from 80 subjects (GSD—55; control—25) were studied. Expression of CCKAR mRNA was evaluated by reverse transcriptase-PCR and confirmed using real-time PCR. Protein expression was evaluated by enzyme-linked immunosorbent assay. We observed significantly ( p  &lt; 0.0001) lower expression of CCKAR mRNA and protein in GSD tissues as compared with control. Significantly higher frequency of A1/A1 genotype (C/T transition) ( p  = 0.0005) was observed for GSD as compared with control. Expression of CCKAR protein was found to be significantly lower ( p  &lt; 0.0001) in A1/A1 genotype as compared with other genotypes for GSD patients. Perhaps, this is the first report providing evidence of alteration in CCKAR expression in relation to its polymorphism elucidating the molecular pathway of the disease. Additional investigations with lager sample size are needed to confirm these findings.</description><identifier>ISSN: 0006-2928</identifier><identifier>EISSN: 1573-4927</identifier><identifier>DOI: 10.1007/s10528-016-9745-x</identifier><identifier>PMID: 27287528</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>Adult ; Biochemistry ; Biomedical and Life Sciences ; Biomedicine ; Disease Susceptibility ; Down-Regulation ; Female ; Gallstones - genetics ; Gallstones - metabolism ; Genotypes ; Genotyping Techniques ; Human Genetics ; Humans ; India ; Male ; Medical Microbiology ; Middle Aged ; Original Article ; Polymorphism, Single Nucleotide ; Receptor, Cholecystokinin A - genetics ; Receptor, Cholecystokinin A - metabolism ; Tissue Distribution ; Young Adult ; Zoology</subject><ispartof>Biochemical genetics, 2016-10, Vol.54 (5), p.665-675</ispartof><rights>Springer Science+Business Media New York 2016</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c405t-e5ba3ad5772562ea19b5440fdd81fa148edec7b3963da13f6cf016c23d5d37af3</citedby><cites>FETCH-LOGICAL-c405t-e5ba3ad5772562ea19b5440fdd81fa148edec7b3963da13f6cf016c23d5d37af3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10528-016-9745-x$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10528-016-9745-x$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27287528$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kazmi, Hasan Raza</creatorcontrib><creatorcontrib>Chandra, Abhijit</creatorcontrib><creatorcontrib>Nigam, Jaya</creatorcontrib><creatorcontrib>Baghel, Kavita</creatorcontrib><creatorcontrib>Srivastava, Meenu</creatorcontrib><creatorcontrib>Maurya, Shailendra S.</creatorcontrib><creatorcontrib>Parmar, Devendra</creatorcontrib><title>Polymorphism and Expression Profile of Cholecystokinin Type A Receptor in Relation to Gallstone Disease Susceptibility</title><title>Biochemical genetics</title><addtitle>Biochem Genet</addtitle><addtitle>Biochem Genet</addtitle><description>In the present study, we investigated expression pattern of Cholecystokinin type A receptor (CCKAR) in relation to its commonly studied polymorphism (rs1800857, T/C) in gallstone disease (GSD) patients and controls. 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Perhaps, this is the first report providing evidence of alteration in CCKAR expression in relation to its polymorphism elucidating the molecular pathway of the disease. 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A total of 502 subjects (272 GSD and 230 controls) were enrolled, and genotyping was performed by evaluating restriction fragments of PstI digested DNA. For analyzing expression pattern of CCKAR in relation to polymorphism, gallbladder tissue samples from 80 subjects (GSD—55; control—25) were studied. Expression of CCKAR mRNA was evaluated by reverse transcriptase-PCR and confirmed using real-time PCR. Protein expression was evaluated by enzyme-linked immunosorbent assay. We observed significantly ( p  &lt; 0.0001) lower expression of CCKAR mRNA and protein in GSD tissues as compared with control. Significantly higher frequency of A1/A1 genotype (C/T transition) ( p  = 0.0005) was observed for GSD as compared with control. Expression of CCKAR protein was found to be significantly lower ( p  &lt; 0.0001) in A1/A1 genotype as compared with other genotypes for GSD patients. Perhaps, this is the first report providing evidence of alteration in CCKAR expression in relation to its polymorphism elucidating the molecular pathway of the disease. Additional investigations with lager sample size are needed to confirm these findings.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>27287528</pmid><doi>10.1007/s10528-016-9745-x</doi><tpages>11</tpages></addata></record>
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subjects Adult
Biochemistry
Biomedical and Life Sciences
Biomedicine
Disease Susceptibility
Down-Regulation
Female
Gallstones - genetics
Gallstones - metabolism
Genotypes
Genotyping Techniques
Human Genetics
Humans
India
Male
Medical Microbiology
Middle Aged
Original Article
Polymorphism, Single Nucleotide
Receptor, Cholecystokinin A - genetics
Receptor, Cholecystokinin A - metabolism
Tissue Distribution
Young Adult
Zoology
title Polymorphism and Expression Profile of Cholecystokinin Type A Receptor in Relation to Gallstone Disease Susceptibility
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