Polymorphism in SFTPD gene affects assembly and constitutional serum levels of surfactant protein D in a Lebanese population

Dalia Fakih, Soulaima Chamat, Myrna Medlej-Hashim, Mirna Waked, Pascale Salameh, Grith Lykke Sørensen, Rania Jounblat

Research output: Contribution to conference without publisher/journalConference abstract for conferenceResearchpeer-review

Abstract

Surfactant protein D (SP-D), an oligomeric lung-derived lectin, has essential roles in innate immunity. It can be measured in serum. Previous studies have shown that constitutional SP-D serum levels and the protein degree of multimerization are genetically influenced. We aimed to establish the distribution profile of serum constitutional SP-D in the Lebanese population and to investigate the genetic influence of single nucleotide polymorphism (SNP) rs721917 within SP-D gene (SFTPD) on its multimerization and its serum basal level. The C/T alleles at this SNP level lead respectively either to a threonine or methionine at position 11 of the SP-D protein. SP-D was measured by ELISA in serum taken from 97 healthy subjects. The p.Met11Thr SNP was genotyped. Different forms of SP-D were separated by gel filtration chromatography. Basal serum SP-D levels varied extensively, over a range of 108.3 ng/ml to 2995 ng/ml. The p.Met11Thr SNP was significantly associated with the serum SP-D levels (p=0.01). Individuals homozygous for the T wild-type allele had the highest mean SP-D serum levels (1423 ng/ml) compared to heterozygous individuals (1139 ng/ml) and homozygous individuals for the C allele (671.4 ng/ml). Serum from heterozygous individuals showed two different molecular weight peaks corresponding to different forms of SP-D of ratio high/low 1:07. However, data showed a remarkable predominance of the low molecular weight form of SP-D (ratio high/low 1:4.65) in serum of individuals carrying the CC genotype. Our preliminary findings validate previous observations of the influence of the p.Met11Thr SNP on assembly and serum concentration of SP-D.
Original languageEnglish
Publication date1. Sep 2014
Publication statusPublished - 1. Sep 2014

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Pulmonary Surfactant-Associated Protein D
Serum
Population
Single Nucleotide Polymorphism
Alleles
Molecular Weight

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Fakih, Dalia ; Chamat, Soulaima ; Medlej-Hashim, Myrna ; Waked, Mirna ; Salameh, Pascale ; Sørensen, Grith Lykke ; Jounblat, Rania. / Polymorphism in SFTPD gene affects assembly and constitutional serum levels of surfactant protein D in a Lebanese population.
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abstract = "Surfactant protein D (SP-D), an oligomeric lung-derived lectin, has essential roles in innate immunity. It can be measured in serum. Previous studies have shown that constitutional SP-D serum levels and the protein degree of multimerization are genetically influenced. We aimed to establish the distribution profile of serum constitutional SP-D in the Lebanese population and to investigate the genetic influence of single nucleotide polymorphism (SNP) rs721917 within SP-D gene (SFTPD) on its multimerization and its serum basal level. The C/T alleles at this SNP level lead respectively either to a threonine or methionine at position 11 of the SP-D protein. SP-D was measured by ELISA in serum taken from 97 healthy subjects. The p.Met11Thr SNP was genotyped. Different forms of SP-D were separated by gel filtration chromatography. Basal serum SP-D levels varied extensively, over a range of 108.3 ng/ml to 2995 ng/ml. The p.Met11Thr SNP was significantly associated with the serum SP-D levels (p=0.01). Individuals homozygous for the T wild-type allele had the highest mean SP-D serum levels (1423 ng/ml) compared to heterozygous individuals (1139 ng/ml) and homozygous individuals for the C allele (671.4 ng/ml). Serum from heterozygous individuals showed two different molecular weight peaks corresponding to different forms of SP-D of ratio high/low 1:07. However, data showed a remarkable predominance of the low molecular weight form of SP-D (ratio high/low 1:4.65) in serum of individuals carrying the CC genotype. Our preliminary findings validate previous observations of the influence of the p.Met11Thr SNP on assembly and serum concentration of SP-D.",
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Polymorphism in SFTPD gene affects assembly and constitutional serum levels of surfactant protein D in a Lebanese population. / Fakih, Dalia; Chamat, Soulaima; Medlej-Hashim, Myrna ; Waked, Mirna ; Salameh, Pascale ; Sørensen, Grith Lykke; Jounblat, Rania.

2014.

Research output: Contribution to conference without publisher/journalConference abstract for conferenceResearchpeer-review

TY - ABST

T1 - Polymorphism in SFTPD gene affects assembly and constitutional serum levels of surfactant protein D in a Lebanese population

AU - Fakih, Dalia

AU - Chamat, Soulaima

AU - Medlej-Hashim, Myrna

AU - Waked, Mirna

AU - Salameh, Pascale

AU - Sørensen, Grith Lykke

AU - Jounblat, Rania

PY - 2014/9/1

Y1 - 2014/9/1

N2 - Surfactant protein D (SP-D), an oligomeric lung-derived lectin, has essential roles in innate immunity. It can be measured in serum. Previous studies have shown that constitutional SP-D serum levels and the protein degree of multimerization are genetically influenced. We aimed to establish the distribution profile of serum constitutional SP-D in the Lebanese population and to investigate the genetic influence of single nucleotide polymorphism (SNP) rs721917 within SP-D gene (SFTPD) on its multimerization and its serum basal level. The C/T alleles at this SNP level lead respectively either to a threonine or methionine at position 11 of the SP-D protein. SP-D was measured by ELISA in serum taken from 97 healthy subjects. The p.Met11Thr SNP was genotyped. Different forms of SP-D were separated by gel filtration chromatography. Basal serum SP-D levels varied extensively, over a range of 108.3 ng/ml to 2995 ng/ml. The p.Met11Thr SNP was significantly associated with the serum SP-D levels (p=0.01). Individuals homozygous for the T wild-type allele had the highest mean SP-D serum levels (1423 ng/ml) compared to heterozygous individuals (1139 ng/ml) and homozygous individuals for the C allele (671.4 ng/ml). Serum from heterozygous individuals showed two different molecular weight peaks corresponding to different forms of SP-D of ratio high/low 1:07. However, data showed a remarkable predominance of the low molecular weight form of SP-D (ratio high/low 1:4.65) in serum of individuals carrying the CC genotype. Our preliminary findings validate previous observations of the influence of the p.Met11Thr SNP on assembly and serum concentration of SP-D.

AB - Surfactant protein D (SP-D), an oligomeric lung-derived lectin, has essential roles in innate immunity. It can be measured in serum. Previous studies have shown that constitutional SP-D serum levels and the protein degree of multimerization are genetically influenced. We aimed to establish the distribution profile of serum constitutional SP-D in the Lebanese population and to investigate the genetic influence of single nucleotide polymorphism (SNP) rs721917 within SP-D gene (SFTPD) on its multimerization and its serum basal level. The C/T alleles at this SNP level lead respectively either to a threonine or methionine at position 11 of the SP-D protein. SP-D was measured by ELISA in serum taken from 97 healthy subjects. The p.Met11Thr SNP was genotyped. Different forms of SP-D were separated by gel filtration chromatography. Basal serum SP-D levels varied extensively, over a range of 108.3 ng/ml to 2995 ng/ml. The p.Met11Thr SNP was significantly associated with the serum SP-D levels (p=0.01). Individuals homozygous for the T wild-type allele had the highest mean SP-D serum levels (1423 ng/ml) compared to heterozygous individuals (1139 ng/ml) and homozygous individuals for the C allele (671.4 ng/ml). Serum from heterozygous individuals showed two different molecular weight peaks corresponding to different forms of SP-D of ratio high/low 1:07. However, data showed a remarkable predominance of the low molecular weight form of SP-D (ratio high/low 1:4.65) in serum of individuals carrying the CC genotype. Our preliminary findings validate previous observations of the influence of the p.Met11Thr SNP on assembly and serum concentration of SP-D.

M3 - Conference abstract for conference

ER -