Association of SNPs within TMPRSS6 and BMP2 genes with iron deficiency status in Saudi Arabia

Globally, iron-deficiency anemia (IDA) remains a major health obstacle. This health condition has been identified in 47% of pre-school students (aged 0 to 5 years), 42% of pregnant females, and 30% of non-pregnant females (aged 15 to 50 years) worldwide according to the WHO. Environmental and geneti...

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Veröffentlicht in:PloS one 2021-11, Vol.16 (11), p.e0257895
Hauptverfasser: Al-Amer, Osama M, Oyouni, Atif Abdulwahab A, Alshehri, Mohammed Ali, Alasmari, Abdulrahman, Alzahrani, Othman R, Aljohani, Saad Ali S, Alasmael, Noura, Theyab, Abdulrahman, Algahtani, Mohammad, Al Sadoun, Hadeel, Alsharif, Khalaf F, Hamad, Abdullah, Abdali, Wed A, Hawasawi, Yousef MohammedRabaa
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container_start_page e0257895
container_title PloS one
container_volume 16
creator Al-Amer, Osama M
Oyouni, Atif Abdulwahab A
Alshehri, Mohammed Ali
Alasmari, Abdulrahman
Alzahrani, Othman R
Aljohani, Saad Ali S
Alasmael, Noura
Theyab, Abdulrahman
Algahtani, Mohammad
Al Sadoun, Hadeel
Alsharif, Khalaf F
Hamad, Abdullah
Abdali, Wed A
Hawasawi, Yousef MohammedRabaa
description Globally, iron-deficiency anemia (IDA) remains a major health obstacle. This health condition has been identified in 47% of pre-school students (aged 0 to 5 years), 42% of pregnant females, and 30% of non-pregnant females (aged 15 to 50 years) worldwide according to the WHO. Environmental and genetic factors play a crucial role in the development of IDA; genetic testing has revealed the association of a number of polymorphisms with iron status and serum ferritin. The current study aims to reveal the association of TMPRSS6 rs141312 and BMP2 rs235756 with the iron status of females in Saudi Arabia. A cohort of 108 female university students aged 18-25 years was randomly selected to participate: 50 healthy and 58 classified as iron deficient. A 3-5 mL sample of blood was collected from each one and analyzed based on hematological and biochemical iron status followed by genotyping by PCR. The genotype distribution of TMPRSS6 rs141312 was 8% (TT), 88% (TC) and 4% (CC) in the healthy group compared with 3.45% (TT), 89.66% (TC) and 6.89% (CC) in the iron-deficient group (P = 0.492), an insignificant difference in the allelic distribution. The genotype distribution of BMP2 rs235756 was 8% (TT), 90% (TC) and 2% (CC) in the healthy group compared with 3.45% (TT), 82.76% (TC) and 13.79% (CC) in iron-deficient group (P = 0.050) and was significantly associated with decreased ferritin status (P = 0.050). In addition, TMPRSS6 rs141312 is significantly (P
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This health condition has been identified in 47% of pre-school students (aged 0 to 5 years), 42% of pregnant females, and 30% of non-pregnant females (aged 15 to 50 years) worldwide according to the WHO. Environmental and genetic factors play a crucial role in the development of IDA; genetic testing has revealed the association of a number of polymorphisms with iron status and serum ferritin. The current study aims to reveal the association of TMPRSS6 rs141312 and BMP2 rs235756 with the iron status of females in Saudi Arabia. A cohort of 108 female university students aged 18-25 years was randomly selected to participate: 50 healthy and 58 classified as iron deficient. A 3-5 mL sample of blood was collected from each one and analyzed based on hematological and biochemical iron status followed by genotyping by PCR. The genotype distribution of TMPRSS6 rs141312 was 8% (TT), 88% (TC) and 4% (CC) in the healthy group compared with 3.45% (TT), 89.66% (TC) and 6.89% (CC) in the iron-deficient group (P = 0.492), an insignificant difference in the allelic distribution. The genotype distribution of BMP2 rs235756 was 8% (TT), 90% (TC) and 2% (CC) in the healthy group compared with 3.45% (TT), 82.76% (TC) and 13.79% (CC) in iron-deficient group (P = 0.050) and was significantly associated with decreased ferritin status (P = 0.050). In addition, TMPRSS6 rs141312 is significantly (P&lt;0.001) associated with dominant genotypes (TC+CC) and increased risk of IDA while BMP2 rs235756 is significantly (P&lt;0.026) associated with recessive homozygote CC genotypes and increased risk of IDA. Our finding potentially helps in the early prediction of iron deficiency in females through the genetic testing.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0257895</identifier><identifier>PMID: 34780475</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Adolescent ; Adult ; Alleles ; Analysis ; Anemia ; Anemia, Iron-Deficiency - epidemiology ; Anemia, Iron-Deficiency - genetics ; Biology ; Biology and Life Sciences ; Biotechnology ; Bone morphogenetic protein 2 ; Bone Morphogenetic Protein 2 - genetics ; Case-Control Studies ; Cohort Studies ; Female ; Females ; Ferritin ; Genes ; Genetic aspects ; Genetic factors ; Genetic screening ; Genetic Testing - methods ; Genomes ; Genotype ; Genotypes ; Genotyping ; Health risk assessment ; Health risks ; Hospitals ; Humans ; Iron ; Iron deficiency ; Iron deficiency anemia ; Medical laboratories ; Medicine ; Medicine and Health Sciences ; Membrane Proteins - genetics ; Nutrient deficiency ; Polymorphism, Single Nucleotide ; Risk Factors ; Saudi Arabia - epidemiology ; Serine Endopeptidases - genetics ; Single nucleotide polymorphisms ; Single-nucleotide polymorphism ; Students ; Universities ; Young Adult</subject><ispartof>PloS one, 2021-11, Vol.16 (11), p.e0257895</ispartof><rights>COPYRIGHT 2021 Public Library of Science</rights><rights>2021 Al-Amer et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 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This health condition has been identified in 47% of pre-school students (aged 0 to 5 years), 42% of pregnant females, and 30% of non-pregnant females (aged 15 to 50 years) worldwide according to the WHO. Environmental and genetic factors play a crucial role in the development of IDA; genetic testing has revealed the association of a number of polymorphisms with iron status and serum ferritin. The current study aims to reveal the association of TMPRSS6 rs141312 and BMP2 rs235756 with the iron status of females in Saudi Arabia. A cohort of 108 female university students aged 18-25 years was randomly selected to participate: 50 healthy and 58 classified as iron deficient. A 3-5 mL sample of blood was collected from each one and analyzed based on hematological and biochemical iron status followed by genotyping by PCR. 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Our finding potentially helps in the early prediction of iron deficiency in females through the genetic testing.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Alleles</subject><subject>Analysis</subject><subject>Anemia</subject><subject>Anemia, Iron-Deficiency - epidemiology</subject><subject>Anemia, Iron-Deficiency - genetics</subject><subject>Biology</subject><subject>Biology and Life Sciences</subject><subject>Biotechnology</subject><subject>Bone morphogenetic protein 2</subject><subject>Bone Morphogenetic Protein 2 - genetics</subject><subject>Case-Control Studies</subject><subject>Cohort Studies</subject><subject>Female</subject><subject>Females</subject><subject>Ferritin</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic factors</subject><subject>Genetic screening</subject><subject>Genetic Testing - methods</subject><subject>Genomes</subject><subject>Genotype</subject><subject>Genotypes</subject><subject>Genotyping</subject><subject>Health risk assessment</subject><subject>Health risks</subject><subject>Hospitals</subject><subject>Humans</subject><subject>Iron</subject><subject>Iron deficiency</subject><subject>Iron deficiency anemia</subject><subject>Medical laboratories</subject><subject>Medicine</subject><subject>Medicine and Health Sciences</subject><subject>Membrane Proteins - genetics</subject><subject>Nutrient deficiency</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Risk Factors</subject><subject>Saudi Arabia - epidemiology</subject><subject>Serine Endopeptidases - genetics</subject><subject>Single nucleotide polymorphisms</subject><subject>Single-nucleotide polymorphism</subject><subject>Students</subject><subject>Universities</subject><subject>Young Adult</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>DOA</sourceid><recordid>eNqNk11v0zAUhiMEYmPwDxBEQkJw0eKP2HFukMrER6WNVcvgDlknjtO6Su0SO8D-Pe6aTQ3aBfKFLft5Xx8fn5MkzzGaYprjd2vXdxba6dZZPUWE5aJgD5JjXFAy4QTRhwfro-SJ92uEGBWcP06OaJYLlOXsOPkx894pA8E4m7omLb8ufPrbhJWx6dX54rIseQq2Tj-cL0i61FbvT1PTRb7WjVFGW3Wd-gCh92lUldDXJp11UBl4mjxqoPX62TCfJN8-fbw6_TI5u_g8P52dTRQvSJhUOQchQNWiUjSjtMYiDlC0UUKQrCG6YhVGDAnNKQhKVFWIqsZxYhnViJ4kL_e-29Z5OWTGS8IKgWhW5DwS8z1RO1jLbWc20F1LB0bebLhuKaELRrVacsQwQwg3dcMyjAlkUHBMdMZqELyqotf74ba-2uhaaRs6aEem4xNrVnLpfknBCpIVu3DfDAad-9lrH-TGeKXbFqx2_RB3zsRN3K_-Qe9_3UAtIT7A2MbFe9XOVM64iLWBEaWRmt5DxVHrjVGxjBoT90eCtyNBZIL-E5bQey_n5eX_sxffx-zrA3aloQ0r79p-V4R-DGZ7UHXO-043d0nGSO664DYbctcFcuiCKHtx-EF3otuyp38Bjtr_mQ</recordid><startdate>20211115</startdate><enddate>20211115</enddate><creator>Al-Amer, Osama M</creator><creator>Oyouni, Atif Abdulwahab A</creator><creator>Alshehri, Mohammed Ali</creator><creator>Alasmari, Abdulrahman</creator><creator>Alzahrani, Othman R</creator><creator>Aljohani, Saad Ali S</creator><creator>Alasmael, Noura</creator><creator>Theyab, Abdulrahman</creator><creator>Algahtani, Mohammad</creator><creator>Al Sadoun, Hadeel</creator><creator>Alsharif, Khalaf F</creator><creator>Hamad, Abdullah</creator><creator>Abdali, Wed A</creator><creator>Hawasawi, Yousef MohammedRabaa</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7QO</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TG</scope><scope>7TM</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PDBOC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0001-8762-4999</orcidid><orcidid>https://orcid.org/0000-0002-0188-1634</orcidid><orcidid>https://orcid.org/0000-0002-6152-7709</orcidid><orcidid>https://orcid.org/0000-0003-1901-697X</orcidid></search><sort><creationdate>20211115</creationdate><title>Association of SNPs within TMPRSS6 and BMP2 genes with iron deficiency status in Saudi Arabia</title><author>Al-Amer, Osama M ; Oyouni, Atif Abdulwahab A ; Alshehri, Mohammed Ali ; Alasmari, Abdulrahman ; Alzahrani, Othman R ; Aljohani, Saad Ali S ; Alasmael, Noura ; Theyab, Abdulrahman ; Algahtani, Mohammad ; Al Sadoun, Hadeel ; Alsharif, Khalaf F ; Hamad, Abdullah ; Abdali, Wed A ; Hawasawi, Yousef MohammedRabaa</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c692t-b76a88acd8bc3433d18181ac3fc8824f2eb5b10508e63a832cb98bd1cb9543e03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Alleles</topic><topic>Analysis</topic><topic>Anemia</topic><topic>Anemia, Iron-Deficiency - 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Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>PloS one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Al-Amer, Osama M</au><au>Oyouni, Atif Abdulwahab A</au><au>Alshehri, Mohammed Ali</au><au>Alasmari, Abdulrahman</au><au>Alzahrani, Othman R</au><au>Aljohani, Saad Ali S</au><au>Alasmael, Noura</au><au>Theyab, Abdulrahman</au><au>Algahtani, Mohammad</au><au>Al Sadoun, Hadeel</au><au>Alsharif, Khalaf F</au><au>Hamad, Abdullah</au><au>Abdali, Wed A</au><au>Hawasawi, Yousef MohammedRabaa</au><au>Ciccacci, Cinzia</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association of SNPs within TMPRSS6 and BMP2 genes with iron deficiency status in Saudi Arabia</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2021-11-15</date><risdate>2021</risdate><volume>16</volume><issue>11</issue><spage>e0257895</spage><pages>e0257895-</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>Globally, iron-deficiency anemia (IDA) remains a major health obstacle. This health condition has been identified in 47% of pre-school students (aged 0 to 5 years), 42% of pregnant females, and 30% of non-pregnant females (aged 15 to 50 years) worldwide according to the WHO. Environmental and genetic factors play a crucial role in the development of IDA; genetic testing has revealed the association of a number of polymorphisms with iron status and serum ferritin. The current study aims to reveal the association of TMPRSS6 rs141312 and BMP2 rs235756 with the iron status of females in Saudi Arabia. A cohort of 108 female university students aged 18-25 years was randomly selected to participate: 50 healthy and 58 classified as iron deficient. A 3-5 mL sample of blood was collected from each one and analyzed based on hematological and biochemical iron status followed by genotyping by PCR. The genotype distribution of TMPRSS6 rs141312 was 8% (TT), 88% (TC) and 4% (CC) in the healthy group compared with 3.45% (TT), 89.66% (TC) and 6.89% (CC) in the iron-deficient group (P = 0.492), an insignificant difference in the allelic distribution. The genotype distribution of BMP2 rs235756 was 8% (TT), 90% (TC) and 2% (CC) in the healthy group compared with 3.45% (TT), 82.76% (TC) and 13.79% (CC) in iron-deficient group (P = 0.050) and was significantly associated with decreased ferritin status (P = 0.050). In addition, TMPRSS6 rs141312 is significantly (P&lt;0.001) associated with dominant genotypes (TC+CC) and increased risk of IDA while BMP2 rs235756 is significantly (P&lt;0.026) associated with recessive homozygote CC genotypes and increased risk of IDA. Our finding potentially helps in the early prediction of iron deficiency in females through the genetic testing.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>34780475</pmid><doi>10.1371/journal.pone.0257895</doi><tpages>e0257895</tpages><orcidid>https://orcid.org/0000-0001-8762-4999</orcidid><orcidid>https://orcid.org/0000-0002-0188-1634</orcidid><orcidid>https://orcid.org/0000-0002-6152-7709</orcidid><orcidid>https://orcid.org/0000-0003-1901-697X</orcidid><oa>free_for_read</oa></addata></record>
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subjects Adolescent
Adult
Alleles
Analysis
Anemia
Anemia, Iron-Deficiency - epidemiology
Anemia, Iron-Deficiency - genetics
Biology
Biology and Life Sciences
Biotechnology
Bone morphogenetic protein 2
Bone Morphogenetic Protein 2 - genetics
Case-Control Studies
Cohort Studies
Female
Females
Ferritin
Genes
Genetic aspects
Genetic factors
Genetic screening
Genetic Testing - methods
Genomes
Genotype
Genotypes
Genotyping
Health risk assessment
Health risks
Hospitals
Humans
Iron
Iron deficiency
Iron deficiency anemia
Medical laboratories
Medicine
Medicine and Health Sciences
Membrane Proteins - genetics
Nutrient deficiency
Polymorphism, Single Nucleotide
Risk Factors
Saudi Arabia - epidemiology
Serine Endopeptidases - genetics
Single nucleotide polymorphisms
Single-nucleotide polymorphism
Students
Universities
Young Adult
title Association of SNPs within TMPRSS6 and BMP2 genes with iron deficiency status in Saudi Arabia
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