A Novel Variant of HOXA10 gene, Ser19Cys, among Patients with Endometriosis and its Relationship with the Severity of the Disease

Pinda Hutajulu, Djaswadi Dasuki, Ahmad Hamim Sadewa, Totok Utoro
In: Indonesian Journal of Biotechnology · 2015 · vol. 18(1) , pp. 36 · doi:10.22146/ijbiotech.7864 · W2470101282
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⚙ AI-generated summary by claude@2026-06, 2026-06-12 ⓘ

A novel heterozygous HOXA10 gene variant, Ser19Cys, was found in 38% of endometriosis patients but not in controls, and was associated with dysmenorrhea and stage I disease.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-12 · read from full text ⓘ

This study examined whether a mutation or polymorphism in the HOXA10 gene occurs in endometriosis patients, focusing on exon 2 (covering most of the coding region). Thirty-two women with endometriosis and 32 healthy controls were recruited; HOXA10 exon 2 was PCR-amplified and screened by direct sequencing, and genotype/allele distributions were compared using chi-square testing. A novel heterozygous missense variant, Ser19Cys (adenine to thymine at base position 55 changing serine to cysteine), was detected in 12 endometriosis cases (38%) and in none of the controls, and carriers were associated with dysmenorrhea and were more frequent in stage I disease. The paper notes that the functional role of Ser19Cys in HOXA10 protein and its frequency among Indonesians require clarification. This paper is centrally about endometriosis — it reports a novel HOXA10 Ser19Cys variant enriched in endometriosis patients and related to dysmenorrhea and disease stage.

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Abstract

Endometriosis is a gynecological disease associated with inherited genetic traits. HOXA10 gene whichis expressed in uterine plays an important role in the pathogenesis of endometriosis. The protein affects thedevelopment of pinopodes as a biomarker of endometrial receptivity in endometriosis.The aim of this study isto examine if there is a mutation or polymorphism within HOXA10 gene among patients with endometriosis.Thirty twopatients and 32 healthy women were recruited as subjects of this study. The exon 2 of HOXA10which covers most of coding region was amplifi ed using PCR. The presence of a mutation or polymorphismwas detected by direct seguencing. The distribution of genotype and allele was analyzed using Chi square test with p<0.05 is considered as signifi cantly different. A novel heterozygous variant within exon 2 of HOXA10 which substitute an adenine into thymine was detected at base position 55. This missense alteration changed amino acid serine to cystein (Ser19Cys). Interestingly, this variant was detected in 12 endometriosis cases (38%) but none in control. Patients carry HOXA10 Ser19Cys variant were associated with dismenorea and more frequent in stage I endometriosis. The role of this variant in the function of HOXA10 protein and frequency among Indonesians need to be clarifi ed. We found a novel heterozygous HOXA10 gene variant, Ser19Cys.The genotype frequency is 38% among endometriosis patients but none in control. This variant found in patient with dismenore and endometriosis stage 1. Key words: HOXA10 gene, endometriosis, Ser19Cys polymophism
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Abstract

Endometriosis is a gynecological disease associated with inherited genetic traits. HOXA10 gene whichis expressed in uterine plays an important role in the pathogenesis of endometriosis. The protein affects thedevelopment of pinopodes as a biomarker of endometrial receptivity in endometriosis.The aim of this study isto examine if there is a mutation or polymorphism within HOXA10 gene among patients with endometriosis.Thirty twopatients and 32 healthy women were recruited as subjects of this study. The exon 2 of HOXA10which covers most of coding region was amplifi ed using PCR. The presence of a mutation or polymorphismwas detected by direct seguencing. The distribution of genotype and allele was analyzed using Chi square test with p<0.05 is considered as signifi cantly different. A novel heterozygous variant within exon 2 of HOXA10 which substitute an adenine into thymine was detected at base position 55. This missense alteration changed amino acid serine to cystein (Ser19Cys). Interestingly, this variant was detected in 12 endometriosis cases (38%) but none in control. Patients carry HOXA10 Ser19Cys variant were associated with dismenorea and more frequent in stage I endometriosis. The role of this variant in the function of HOXA10 protein and frequency among Indonesians need to be clarifi ed. We found a novel heterozygous HOXA10 gene variant, Ser19Cys.The genotype frequency is 38% among endometriosis patients but none in control. This variant found in patient with dismenore and endometriosis stage 1. Key words: HOXA10 gene, endometriosis, Ser19Cys polymophism

Keywords

HOXA10 gene; endometriosis; Ser19Cys polymophism Full Text: PDFDOI: https://doi.org/10.22146/ijbiotech.7864 Article Metrics

Abstract

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endometriosis

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