An Association Study of ESR1–XbaI and PvuII Gene Polymorphism in Migraine Susceptibility in the Jammu Region

Abstract

<b><i>Introduction:</i></b> Migraine is a neurovascular disorder and is clinically characterized by episodic attacks of mild to severe headaches. Due to the involvement of multiple environmental and genetic factors, it has become a much more complex neurological condition to understand. Apart from the environmental variables, a plethora of genes have been implicated, and one such example is <i>ESR</i>1. The present study was focused to find out the association of two important polymorphisms, namely, <i>Pvu</i>II and <i>Xba</i>I of the <i>ESR</i>1 with migraine in the population of Jammu and Kashmir (UT). <b><i>Methods:</i></b> The PCR-RFLP genotyping method was utilized to detect <i>Pvu</i>II and <i>Xba</i>I polymorphism, and the result was confirmed by statistical analysis. <b><i>Results:</i></b> Although we did not find a signification association of <i>ESR</i>-<i>Pvu</i>II polymorphism with migraine susceptibility {OR: 1.14 at 95% CI [0.76–1.71] (<i>p</i> value 0.5)}, a strong association was found with the clinical subtype of migraine; migraine with aura (MA) {OR: 2.014 at 95% CI [1.069–3.792] (<i>p</i> value 0.028)}. Furthermore, a significant association of <i>ESR</i>-<i>Xba</i>I polymorphism was observed with migraine {OR: 1.908 at 95% CI [1.252–2.907] (<i>p</i> value 0.002) and its both clinical subtypes; migraine without aura (MO) {OR: 1.870 at 95% CI [1.186–2.950] (<i>p</i> value 0.006)} and MA {OR: 2.014 at 95% CI [1.069–3.792] (<i>p</i> value 0.028)}. <b><i>Conclusion:</i></b> In conclusion, <i>ESR</i>1-<i>Xba</i>I polymorphism is significantly associated with migraine risk including both subtypes (MA and MO) in the North Indian population of Jammu.

Comprehensive analysis of genes associated with migraine in the Indian population: a meta-analysis of genetic association studies with trial sequential analysis

“…which was consistent with Kumar and group 29 in contrast to Ghosh and group 37 . The other intronic variant i.e., PvuII which is separated by the 50 bp from XbaI, two studies discussed the association in the respective populations, and upon combing both studies, the present pooled meta-analysis showed significant association with the risk of migraine including both of its clinical subtypes which supports the result observed by Joshi and group 14 in contrast to Kumar and group 29 .…”

“…In the present study, we found two variants such as PvuII and XbaI of ESR1 studies in the Indian population by three different research groups 14 , 29 , 37 (Supplementary Tables 6 and 7 S1). Concerning ESR1-PvuII, a significant association has been found where the allele (OR: 1.47 [1.24–1.74], I 2 = 0%), dominant (OR: 1.66 [1.30–2.12], I 2 = 0%), and recessive model (OR: 1.91 [1.31–2.77], I 2 = 0%) significantly increase the risk of migraine.…”

“…2 ) (Paint—Microsoft Apps). Only nine genes have been studied more than two times in the Indian population and thus were found eligible for the meta-analysis and these include six studies which have explored MTHFR gene 13 , 16 – 18 , 22 , 23 , three studies for ACE (I/D polymorphism) 13 , 17 , 24 , LRP1- rs11172113 19 , 26 , 28 , PRDM16- rs2651899 19 , 26 , TRPM8- rs10166942 and rs10504861 21 , 26 , ESR1 PvuII and XbaI 15 , 29 , 37 , DAO- rs10156191, rs2052129 20 , 35 and TNF-α G308A 25 , 30 .

Figure 1 Selection of literature according to PRISMA (Preferred Reporting Items for Systematics Reviews and Meta-Analysis) guidelines.

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“…Concerning, after critical literature analysis, only two research publications were found 29 , 37 discussing the impact of XbaI polymorphism on the susceptibility of migraine and its type. The pooled OR of both studies did not show any significant association with the risk of migraine or with the migraine sub-type (Supplementary Table 12 S1).…”

Epigenetics in migraine: A review

“…[15][16][17] It affects 2.7 percent to 10.0 percent of younger children (both sexes are affected equally), but as children get older, the female sex hormone affects more females (12 percent -17 percent) (Estrogen) and males with 4% -7%. 18,19 Migraine has multifactorial involvements including environment, genetic, 10,20 brain structure abnormalities, and their interaction 21 (Figure 3). The various pathological mechanism has been already established 20,22,23 but there are still matters of contention that what is the seed etiology of the condition.…”