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Research Article: Aljamali & Youssef 96

يثحب لاقم
The Frequency of Rs8134378 and Rs12329760 Gene Polymorphism
in A Cohort of Healthy and Compromised Syrians SJSI
ةرهمج ىدل TMPRSS2 نيج يف rs12329760 و rs8134378 نييلكشلا نيددعتلا رتاوت
نييروسلا ىضرملاو ءاحصلأا نم

2023 راذآ 4 :ميدقتلا خيرات ةناقتلل ةماعلا ةئيهلا - قشمد ةعماج ،ةلديصلا ةيلك :تاهجلا :نوفلؤملا
2023 ناسين 4 :لوبقلا خيرات ايجولونكتلاو مولعلل ةصاخلا ةيلودلا ةعماجلا - ةيويحلا يلامجلا دجم
maljamali@gmail.com :لصاوتلا فسوي ىمل

ABSTRACT

The COVID-19 pandemic is characterized by spatial heterogeneity in prevalence, morbidity, severity,
and mortality rates in different human populations. Although environmental, demographic (i.e., age

and gender) and clinical factors (i.e., comorbidities) cannot be excluded, heterogeneity in the genetic
makeup of individuals of different races and ethnicities could be a contributing, and perhaps a decisive,

factor in the observed variations in the frequency and severity of cases. Recently, several hypotheses
have proposed a role for single-nucleotide polymorphisms (SNPs) in the gene encoding the viral

receptor (ACEII) expressed on cell surfaces and the transmembrane serine protease (TMPRSS2)
involved in the pathogenicity of the virus via cleaving the viral spike protein and facilitating the binding

of the latter to its receptor. This study comes as a contribution to identifying the genetic makeup that
may be associated with the spread of COVID-19 and severity of the disease in healthy Syrian subjects

well as individuals diagnosed with diseases related to severity of the disease. We investigated the
frequency of two SNPs; rs8134378 (G>A) and rs12329760 (C>T) in the TMPRSS2 gene. We

designed and performed a PCR using specific primers for the site of each of the two SNPs, followed
by sequencing of the amplification products to identify nucleotide change for each. Our findings

revealed a high frequency of the rs8134378 "A" minor allele in the healthy subjects (11.4%) and male
patients (17.9%), and in contrast a low frequency of the rs12329760 "T" allele in healthy subjects

(19%) and male patients (16.7%), compared with the average frequencies of (7.7%) and (22.5%),
respectively, in other populations in the world. Nevertheless, all these observed differences were not

statistically significant (p >0.05 for all comparisons). Our results suggest a possible association
between the frequencies of both polymorphisms in the population studied and the reported low rates

of severe morbidity and mortality in the Syrian population. The major limitation of this study is the
relatively small size of its population.

Key Words: TMPRSS2 gene, Syrians, prevalence, SNP, rs8134378, rs12329760.

SJSI – 2023: VOLUME 1-1