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Genetic Polymorphisms of Surfactant Protein D rs2243639, Interleukin (IL)-1β rs16944 and IL-1RN rs2234663 in Chronic Obstructive Pulmonary Disease, Healthy Smokers, and Non-Smokers
Background and Objectives Chronic obstructive pulmonary disease (COPD) is a complex chronic inflammatory disease that involves the activity of various inflammatory cells and mediators. It has been suggested that susceptibility to COPD is, at least in part, genetically determined. The primary aim of...
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| Published in: | Molecular diagnosis & therapy 2014-06, Vol.18 (3), p.343-354 |
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| description | Background and Objectives
Chronic obstructive pulmonary disease (COPD) is a complex chronic inflammatory disease that involves the activity of various inflammatory cells and mediators. It has been suggested that susceptibility to COPD is, at least in part, genetically determined. The primary aim of this study was to investigate the association between surfactant protein D (
SFTPD
) rs2243639, interleukin (
IL
)-
1β
rs16944 and IL-1 receptor antagonist (
IL-1RN
) rs2234663 gene polymorphisms and COPD susceptibility, as well as examining the association between the various
IL-1RN/IL-1β
haplotypes and pulmonary function tests (PFT). Secondly, we aimed to examine the influence of
SFTPD
rs2243639 polymorphism on serum surfactant protein D (SP-D) level.
Methods
A total of 114 subjects were recruited in this study and divided into three groups: 63 COPD patients, 25 asymptomatic smokers, and 26 healthy controls. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was performed for the detection of
SFTPD
rs2243639 and
IL-1β
rs16944 polymorphisms. Detection of variable numbers of an 86-bp tandem repeat (VNTR) of
IL-1RN
was done using PCR. Serum SP-D level was measured using enzyme linked-immunosorbent assay. PFTs were measured by spirometry.
Results
Carriers of the
SFTPD
AG and AA polymorphic genotypes constituted 71.4 % of COPD patients versus 48 % in asymptomatic smokers, with a statistically significant difference between the two groups (
p
= 0.049). Smokers who were carriers of the polymorphic
SFTPD
rs2243639 A allele (AG and AA genotypes) have a 2.708 times risk of developing COPD when compared with wild-type GG genotype carriers [odds ratio (OR) 2.708 (95 % CI 1.041–7.047)]. Forced expiratory flow (FEF) 25–75 % predicted was higher in
IL-1RN
*1/*1 when compared with *1/*2 (
p
= 0.013). FEF25–75 % predicted in carriers of haplotype
IL-1RN *1
/
IL-1β
T
(49.21 ± 10.26) was statistically significantly higher than in carriers of
IL-1RN *2/IL-1β T
(39.67 ± 12.64) [
p
= 0.005]. Forced expiratory volume in 1 s (FEV1)/forced vital capacity (FVC) in carriers of haplotype
IL-1RN *1
/
IL-1β T
(64.09 ± 6.39) was statistically significantly higher than in carriers of
IL-1RN *2
/
IL-1βT
(59.44 ± 7.71) [
p
= 0.048]. There was no association between
SFTPD
rs2243639 genotypes and serum SP-D level.
Conclusions
Smokers who are carriers of the
SFTPD
AG and AA polymorphic genotypes may be at a higher risk of developing COPD when compared with wild-type |
| doi_str_mv | 10.1007/s40291-014-0084-5 |
| format | article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1639991286</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1639991286</sourcerecordid><originalsourceid>FETCH-LOGICAL-c377t-dc574575548072985a1b9e5ab1cd4ba4c4110fd3da85989a6d3c6d0980b368b13</originalsourceid><addsrcrecordid>eNp9Uctu2zAQFIoGaJrmA3rjMQXMlsuXxGPhpIkBIzGS9ExQFFUrkUiXpAr4twr0N_pNZeyce9rFzswuZqeqPgL5DITUXxInVAEmwDEhDcfiTXUKUCtMCSFvD32NgUj6rnqf0hMhXEhFT6s_1867PFi0CeN-CnG3HdKUUOjRwxx7Y7PxGW1iyG7w6BLFRClnkqkFWvns4ujm5wJcrNafMPz9XXCQinNkfIdWawz3twcJ41IyVIjLbQy-XLtrU46zzcMvhzbzOAVv4h5dDsmZ5Bboxpkxb_foYQrPLqbFYd9t8Ph18KE66c2Y3PlrPau-f7t6XN7g9d31avl1jS2r64w7K2ouaiF4Q2qqGmGgVU6YFmzHW8MtByB9xzrTCNUoIztmZUdUQ1ommxbYWXVx3LuL4efsUtbTkKwbR-NdmJOG8gmlgDayUOFItTGkFF2vd3GYiisNRL9EpI8R6RKRfolIi6KhR00qXP_DRf0U5uiLo_-I_gE3G5Je</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1639991286</pqid></control><display><type>article</type><title>Genetic Polymorphisms of Surfactant Protein D rs2243639, Interleukin (IL)-1β rs16944 and IL-1RN rs2234663 in Chronic Obstructive Pulmonary Disease, Healthy Smokers, and Non-Smokers</title><source>Springer Link</source><creator>Issac, Marianne Samir M. ; Ashur, Wafaa ; Mousa, Heba</creator><creatorcontrib>Issac, Marianne Samir M. ; Ashur, Wafaa ; Mousa, Heba</creatorcontrib><description>Background and Objectives
Chronic obstructive pulmonary disease (COPD) is a complex chronic inflammatory disease that involves the activity of various inflammatory cells and mediators. It has been suggested that susceptibility to COPD is, at least in part, genetically determined. The primary aim of this study was to investigate the association between surfactant protein D (
SFTPD
) rs2243639, interleukin (
IL
)-
1β
rs16944 and IL-1 receptor antagonist (
IL-1RN
) rs2234663 gene polymorphisms and COPD susceptibility, as well as examining the association between the various
IL-1RN/IL-1β
haplotypes and pulmonary function tests (PFT). Secondly, we aimed to examine the influence of
SFTPD
rs2243639 polymorphism on serum surfactant protein D (SP-D) level.
Methods
A total of 114 subjects were recruited in this study and divided into three groups: 63 COPD patients, 25 asymptomatic smokers, and 26 healthy controls. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was performed for the detection of
SFTPD
rs2243639 and
IL-1β
rs16944 polymorphisms. Detection of variable numbers of an 86-bp tandem repeat (VNTR) of
IL-1RN
was done using PCR. Serum SP-D level was measured using enzyme linked-immunosorbent assay. PFTs were measured by spirometry.
Results
Carriers of the
SFTPD
AG and AA polymorphic genotypes constituted 71.4 % of COPD patients versus 48 % in asymptomatic smokers, with a statistically significant difference between the two groups (
p
= 0.049). Smokers who were carriers of the polymorphic
SFTPD
rs2243639 A allele (AG and AA genotypes) have a 2.708 times risk of developing COPD when compared with wild-type GG genotype carriers [odds ratio (OR) 2.708 (95 % CI 1.041–7.047)]. Forced expiratory flow (FEF) 25–75 % predicted was higher in
IL-1RN
*1/*1 when compared with *1/*2 (
p
= 0.013). FEF25–75 % predicted in carriers of haplotype
IL-1RN *1
/
IL-1β
T
(49.21 ± 10.26) was statistically significantly higher than in carriers of
IL-1RN *2/IL-1β T
(39.67 ± 12.64) [
p
= 0.005]. Forced expiratory volume in 1 s (FEV1)/forced vital capacity (FVC) in carriers of haplotype
IL-1RN *1
/
IL-1β T
(64.09 ± 6.39) was statistically significantly higher than in carriers of
IL-1RN *2
/
IL-1βT
(59.44 ± 7.71) [
p
= 0.048]. There was no association between
SFTPD
rs2243639 genotypes and serum SP-D level.
Conclusions
Smokers who are carriers of the
SFTPD
AG and AA polymorphic genotypes may be at a higher risk of developing COPD when compared with wild-type GG genotype carriers.
IL-1RN
rs2234663/
IL-1β
rs16944 haplotypes influence FEF25–75 % predicted and FEV1/FVC.
SFTPD
rs2243639 polymorphism did not influence serum SP-D levels in our group of recruited subjects.</description><identifier>ISSN: 1177-1062</identifier><identifier>EISSN: 1179-2000</identifier><identifier>DOI: 10.1007/s40291-014-0084-5</identifier><language>eng</language><publisher>Cham: Springer International Publishing</publisher><subject>Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; Human Genetics ; Laboratory Medicine ; Molecular Medicine ; Original Research Article ; Pharmacotherapy</subject><ispartof>Molecular diagnosis & therapy, 2014-06, Vol.18 (3), p.343-354</ispartof><rights>Springer International Publishing Switzerland 2014</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c377t-dc574575548072985a1b9e5ab1cd4ba4c4110fd3da85989a6d3c6d0980b368b13</citedby><cites>FETCH-LOGICAL-c377t-dc574575548072985a1b9e5ab1cd4ba4c4110fd3da85989a6d3c6d0980b368b13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,786,790,27957,27958</link.rule.ids></links><search><creatorcontrib>Issac, Marianne Samir M.</creatorcontrib><creatorcontrib>Ashur, Wafaa</creatorcontrib><creatorcontrib>Mousa, Heba</creatorcontrib><title>Genetic Polymorphisms of Surfactant Protein D rs2243639, Interleukin (IL)-1β rs16944 and IL-1RN rs2234663 in Chronic Obstructive Pulmonary Disease, Healthy Smokers, and Non-Smokers</title><title>Molecular diagnosis & therapy</title><addtitle>Mol Diagn Ther</addtitle><description>Background and Objectives
Chronic obstructive pulmonary disease (COPD) is a complex chronic inflammatory disease that involves the activity of various inflammatory cells and mediators. It has been suggested that susceptibility to COPD is, at least in part, genetically determined. The primary aim of this study was to investigate the association between surfactant protein D (
SFTPD
) rs2243639, interleukin (
IL
)-
1β
rs16944 and IL-1 receptor antagonist (
IL-1RN
) rs2234663 gene polymorphisms and COPD susceptibility, as well as examining the association between the various
IL-1RN/IL-1β
haplotypes and pulmonary function tests (PFT). Secondly, we aimed to examine the influence of
SFTPD
rs2243639 polymorphism on serum surfactant protein D (SP-D) level.
Methods
A total of 114 subjects were recruited in this study and divided into three groups: 63 COPD patients, 25 asymptomatic smokers, and 26 healthy controls. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was performed for the detection of
SFTPD
rs2243639 and
IL-1β
rs16944 polymorphisms. Detection of variable numbers of an 86-bp tandem repeat (VNTR) of
IL-1RN
was done using PCR. Serum SP-D level was measured using enzyme linked-immunosorbent assay. PFTs were measured by spirometry.
Results
Carriers of the
SFTPD
AG and AA polymorphic genotypes constituted 71.4 % of COPD patients versus 48 % in asymptomatic smokers, with a statistically significant difference between the two groups (
p
= 0.049). Smokers who were carriers of the polymorphic
SFTPD
rs2243639 A allele (AG and AA genotypes) have a 2.708 times risk of developing COPD when compared with wild-type GG genotype carriers [odds ratio (OR) 2.708 (95 % CI 1.041–7.047)]. Forced expiratory flow (FEF) 25–75 % predicted was higher in
IL-1RN
*1/*1 when compared with *1/*2 (
p
= 0.013). FEF25–75 % predicted in carriers of haplotype
IL-1RN *1
/
IL-1β
T
(49.21 ± 10.26) was statistically significantly higher than in carriers of
IL-1RN *2/IL-1β T
(39.67 ± 12.64) [
p
= 0.005]. Forced expiratory volume in 1 s (FEV1)/forced vital capacity (FVC) in carriers of haplotype
IL-1RN *1
/
IL-1β T
(64.09 ± 6.39) was statistically significantly higher than in carriers of
IL-1RN *2
/
IL-1βT
(59.44 ± 7.71) [
p
= 0.048]. There was no association between
SFTPD
rs2243639 genotypes and serum SP-D level.
Conclusions
Smokers who are carriers of the
SFTPD
AG and AA polymorphic genotypes may be at a higher risk of developing COPD when compared with wild-type GG genotype carriers.
IL-1RN
rs2234663/
IL-1β
rs16944 haplotypes influence FEF25–75 % predicted and FEV1/FVC.
SFTPD
rs2243639 polymorphism did not influence serum SP-D levels in our group of recruited subjects.</description><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>Human Genetics</subject><subject>Laboratory Medicine</subject><subject>Molecular Medicine</subject><subject>Original Research Article</subject><subject>Pharmacotherapy</subject><issn>1177-1062</issn><issn>1179-2000</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><recordid>eNp9Uctu2zAQFIoGaJrmA3rjMQXMlsuXxGPhpIkBIzGS9ExQFFUrkUiXpAr4twr0N_pNZeyce9rFzswuZqeqPgL5DITUXxInVAEmwDEhDcfiTXUKUCtMCSFvD32NgUj6rnqf0hMhXEhFT6s_1867PFi0CeN-CnG3HdKUUOjRwxx7Y7PxGW1iyG7w6BLFRClnkqkFWvns4ujm5wJcrNafMPz9XXCQinNkfIdWawz3twcJ41IyVIjLbQy-XLtrU46zzcMvhzbzOAVv4h5dDsmZ5Bboxpkxb_foYQrPLqbFYd9t8Ph18KE66c2Y3PlrPau-f7t6XN7g9d31avl1jS2r64w7K2ouaiF4Q2qqGmGgVU6YFmzHW8MtByB9xzrTCNUoIztmZUdUQ1ommxbYWXVx3LuL4efsUtbTkKwbR-NdmJOG8gmlgDayUOFItTGkFF2vd3GYiisNRL9EpI8R6RKRfolIi6KhR00qXP_DRf0U5uiLo_-I_gE3G5Je</recordid><startdate>20140601</startdate><enddate>20140601</enddate><creator>Issac, Marianne Samir M.</creator><creator>Ashur, Wafaa</creator><creator>Mousa, Heba</creator><general>Springer International Publishing</general><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>20140601</creationdate><title>Genetic Polymorphisms of Surfactant Protein D rs2243639, Interleukin (IL)-1β rs16944 and IL-1RN rs2234663 in Chronic Obstructive Pulmonary Disease, Healthy Smokers, and Non-Smokers</title><author>Issac, Marianne Samir M. ; Ashur, Wafaa ; Mousa, Heba</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c377t-dc574575548072985a1b9e5ab1cd4ba4c4110fd3da85989a6d3c6d0980b368b13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer Research</topic><topic>Human Genetics</topic><topic>Laboratory Medicine</topic><topic>Molecular Medicine</topic><topic>Original Research Article</topic><topic>Pharmacotherapy</topic><toplevel>online_resources</toplevel><creatorcontrib>Issac, Marianne Samir M.</creatorcontrib><creatorcontrib>Ashur, Wafaa</creatorcontrib><creatorcontrib>Mousa, Heba</creatorcontrib><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Molecular diagnosis & therapy</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Issac, Marianne Samir M.</au><au>Ashur, Wafaa</au><au>Mousa, Heba</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic Polymorphisms of Surfactant Protein D rs2243639, Interleukin (IL)-1β rs16944 and IL-1RN rs2234663 in Chronic Obstructive Pulmonary Disease, Healthy Smokers, and Non-Smokers</atitle><jtitle>Molecular diagnosis & therapy</jtitle><stitle>Mol Diagn Ther</stitle><date>2014-06-01</date><risdate>2014</risdate><volume>18</volume><issue>3</issue><spage>343</spage><epage>354</epage><pages>343-354</pages><issn>1177-1062</issn><eissn>1179-2000</eissn><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><abstract>Background and Objectives
Chronic obstructive pulmonary disease (COPD) is a complex chronic inflammatory disease that involves the activity of various inflammatory cells and mediators. It has been suggested that susceptibility to COPD is, at least in part, genetically determined. The primary aim of this study was to investigate the association between surfactant protein D (
SFTPD
) rs2243639, interleukin (
IL
)-
1β
rs16944 and IL-1 receptor antagonist (
IL-1RN
) rs2234663 gene polymorphisms and COPD susceptibility, as well as examining the association between the various
IL-1RN/IL-1β
haplotypes and pulmonary function tests (PFT). Secondly, we aimed to examine the influence of
SFTPD
rs2243639 polymorphism on serum surfactant protein D (SP-D) level.
Methods
A total of 114 subjects were recruited in this study and divided into three groups: 63 COPD patients, 25 asymptomatic smokers, and 26 healthy controls. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was performed for the detection of
SFTPD
rs2243639 and
IL-1β
rs16944 polymorphisms. Detection of variable numbers of an 86-bp tandem repeat (VNTR) of
IL-1RN
was done using PCR. Serum SP-D level was measured using enzyme linked-immunosorbent assay. PFTs were measured by spirometry.
Results
Carriers of the
SFTPD
AG and AA polymorphic genotypes constituted 71.4 % of COPD patients versus 48 % in asymptomatic smokers, with a statistically significant difference between the two groups (
p
= 0.049). Smokers who were carriers of the polymorphic
SFTPD
rs2243639 A allele (AG and AA genotypes) have a 2.708 times risk of developing COPD when compared with wild-type GG genotype carriers [odds ratio (OR) 2.708 (95 % CI 1.041–7.047)]. Forced expiratory flow (FEF) 25–75 % predicted was higher in
IL-1RN
*1/*1 when compared with *1/*2 (
p
= 0.013). FEF25–75 % predicted in carriers of haplotype
IL-1RN *1
/
IL-1β
T
(49.21 ± 10.26) was statistically significantly higher than in carriers of
IL-1RN *2/IL-1β T
(39.67 ± 12.64) [
p
= 0.005]. Forced expiratory volume in 1 s (FEV1)/forced vital capacity (FVC) in carriers of haplotype
IL-1RN *1
/
IL-1β T
(64.09 ± 6.39) was statistically significantly higher than in carriers of
IL-1RN *2
/
IL-1βT
(59.44 ± 7.71) [
p
= 0.048]. There was no association between
SFTPD
rs2243639 genotypes and serum SP-D level.
Conclusions
Smokers who are carriers of the
SFTPD
AG and AA polymorphic genotypes may be at a higher risk of developing COPD when compared with wild-type GG genotype carriers.
IL-1RN
rs2234663/
IL-1β
rs16944 haplotypes influence FEF25–75 % predicted and FEV1/FVC.
SFTPD
rs2243639 polymorphism did not influence serum SP-D levels in our group of recruited subjects.</abstract><cop>Cham</cop><pub>Springer International Publishing</pub><doi>10.1007/s40291-014-0084-5</doi><tpages>12</tpages></addata></record> |
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| subjects | Biomedical and Life Sciences Biomedicine Cancer Research Human Genetics Laboratory Medicine Molecular Medicine Original Research Article Pharmacotherapy |
| title | Genetic Polymorphisms of Surfactant Protein D rs2243639, Interleukin (IL)-1β rs16944 and IL-1RN rs2234663 in Chronic Obstructive Pulmonary Disease, Healthy Smokers, and Non-Smokers |
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