Allelic prevalence of intron 3 insertiondeletion genetic polymorphism of dna double-strand break repair gene XRCC4 in four healthy Iranian populations

Abstract EN

The X-ray cross-complementing group 4 (XRCC4; OMIM: 194363), plays an important role in repair of DNA double-strand breaks via non-homologous end joining pathway.

In order to find the allelic prevalence of an insertion/deletion polymorphism in intron 3 of XRCC4 (Ins/Del; rs28360071) among Iranian populations, the present study was carried out.

Subjects and methods: The total study subjects consisted of 662, 200, 291, and 200 individuals from Shiraz (Fars province; belong to Persians), Abarku (Yazd province; belong to Persians), Tabriz (East Azerbaijan province; belong to Azaris), and Yasuj (Kohgiluyeh va Boyer-Ahmad province; belong to Lurs), respectively.

Genotypic analysis of the Ins/Del XRCC4 polymorphism was detected by the PCR method.

Results: The prevalence of the Del allele in Shiraz, Abarku, Tabriz, and Yasuj was estimated 44.4%, 37.3%, 53.6% and 45.0%, respectively.

Tabriz (Azaris) showed the significant difference with other populations (v2 =20.06, df = 1, P <0.001).

Also there was a significant difference between Persians of Shiraz and Abarku (v2 =6.43, df = 1, P= 0.011).

Conclusion: Although there is a significant heterogeneity between Iranian populations, the Del allele shows high prevalence among Iranian populations, which is much higher than the allelic prevalence among Asians.