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Study the association of transmembrane serine protease 6 gene polymorphisms with iron deficiency status in Saudi Arabia.
Gene ( IF 3.5 ) Pub Date : 2020-05-15 , DOI: 10.1016/j.gene.2020.144767
Osama Al-Amer 1 , Yousef Hawasawi 2 , Atif Abdulwahab A Oyouni 3 , Mohammed Alshehri 3 , Abdulrahman Alasmari 3 , Othman Alzahrani 3 , Saad Ali S Aljohani 4
Affiliation  

BACKGROUND Intheclinical setting, iron deficiencyanaemia(IDA) represents a majorglobalhealthconcern. This health condition is reported in 30% of non-pregnant women, 42% of pregnant women (aged 15-50 years), 12.7% of men (15 years or older) and in 47% of preschool children (aged 0 to 5 years). Several genetic polymorphisms associated with iron status havebeen identified by using genome-wide association studies. AIM This study aimed to identify the functional polymorphismsrs855791 and rs2111833 in the transmembrane serine protease 6 (TMPRSS6) gene in female university students with IDA inthe Kingdom of Saudi Arabia. METHODS About 108 female students, aged from 18 to 25 years, were randomly selected and included to this study. Fifty-eightparticipants were iron deficient, and fifty participants were healthy. Blood samples were collected from all participants andassessed based on theirhaematologicaland biochemical iron status indices. Genotyping was carried out byusing PCR. RESULTS The genotype distribution oftheTMPRSS6rs855791 region in female studentsfromTabuk University,northern Saudi Arabia,was0% (CC), 77.6% (CT) and 22.4% (TT) in the iron-deficient students compared to 2% (CC), 96% (CT) and 2% (TT) in the healthy students,indicating significant differences in the allelic distribution betweentheiron-deficient group andthehealthy group. The genotype distribution of theTMPRSS6rs2111833 polymorphism was 8.6% (GG), 89.7% (GA) and 1.7% (AA) inthe iron-deficient students compared to 6% (GG), 92% (GA) and 2% (AA) in the healthy students,respectively,showing no differences between the iron-deficient group andthehealthy group in allelic distribution. CONCLUSION Our data demonstrated that theTMPRSS6 polymorphism rs855791 is significantly associated with decreased iron status, whereasTMPRSS6 polymorphismrs2111833 is not linked with iron deficiency status in female university students innorthern Saudi Arabia.

中文翻译:

研究沙特阿拉伯跨膜丝氨酸蛋白酶6基因多态性与铁缺乏状态的关系。

背景技术在临床上,铁缺乏性贫血(IDA)代表了全球主要的健康问题。据报告,这种健康状况的发生率包括:30%的未怀孕妇女,42%的孕妇(15-50岁),12.7%的男性(15岁以上)和47%的学龄前儿童(0至5岁) )。通过使用全基因组关联研究已经确定了与铁状态相关的几种遗传多态性。目的本研究旨在鉴定沙特阿拉伯IDA女大学生跨膜丝氨酸蛋白酶6(TMPRSS6)基因的功能多态性rs855791和rs2111833。方法随机选择约108名年龄在18至25岁之间的女学生并纳入本研究。58名参与者缺铁,五十名参与者健康。从所有参与者中收集血液样本,并根据他们的血液学和生化铁状态指标进行评估。通过PCR进行基因分型。结果沙特阿拉伯北部塔布克大学女学生的TMPRSS6rs855791区域的基因型分布在铁缺乏的学生中分别为0%(CC),77.6%(CT)和22.4%(TT),而2%(CC),96%(CT) )和2%(TT)的健康学生,这表明缺铁组和健康组之间的等位基因分布存在显着差异。TMPRSS6rs2111833基因多态性的基因型分布在缺铁学生中分别为8.6%(GG),89.7%(GA)和1.7%(AA),而在普通人群中分别为6%(GG),92%(GA)和2%(AA)。健康学生在等位基因分布上铁缺乏组和健康组之间无差异。
更新日期:2020-05-16
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