Prevalence of p.G87V and p.Gln298=Variations in LIPA Gene Within Middle Eastern Population Living Around Los Angeles.

IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Genetic testing and molecular biomarkers Pub Date : 2023-10-01 DOI:10.1089/gtmb.2023.0003
Jayden Jackson, Justin Farajzadeh, Robert Turner, Kevin Yukutake, Eric Baghdasaryan, Emily St Denis, Tigran Barseghyan, Pamela Herrera, Sajo Begaj, Marvin Pietruszka, Yadira Valles-Ayoub
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Abstract

Background: The LIPA gene encodes for lysosomal acid lipase (LAL), which catalyzes the hydrolysis of cholesterol esters and triglycerides. Variations in the LIPA gene impair LAL activity, predisposing patients to a rare metabolic disorder called LAL deficiency (LAL-D). The lack of functioning LAL promotes lipid accumulation and subsequent dyslipidemia, which can increase the likelihood of complications in both infants and adults. Although the worldwide prevalence is 1:500,000 births, the frequency in Mizrahi Jewish populations is projected to be as high as 1 in every 4200 births (Valles-Ayoub et al.) based on the LIPA p.G87V variant frequency among 162 individuals. Materials and Methods: This study was conducted to validate the previously reported prevalence of LAL-D in the Mizrahi Jewish population based on the pathogenic LIPA missense variants in exon 4 (c.260G>T; p.G87V) and exon 8 (c.894G>A; p.Gln298=) using a larger cohort of those with Middle Eastern ancestry living around Los Angeles. Among the 1184 individual samples sequenced, 660 self-reported as Mizrahi Jewish, while the remaining 524 came from other Middle Eastern groups labeled as "non-Jewish." Results: Of the 1184 samples, 22 alleles of the exon 4 variant were identified (1.85%), and 2 alleles of the exon 8 variant were identified (0.16%). For the exon 4 variant, 20 of 22 (90.9%) heterozygotes were Mizrahi Jewish, while 2 of 22 (9.09%) heterozygotes were "non-Jewish." For the exon 8 variant, 2 of 2 (100%) heterozygotes were Mizrahi Jewish. This suggests that the prevalence of LAL-D in this population is 1 in 900, which suggests that LAL-D may be 4.6% higher in the Mizrahi Jewish population in previous reports. Conclusion: These findings show increased prevalence of LIPA gene exon 4 variation p.G87V in the Middle East population when compared to the general population, indicating the need for prenatal screening in those of Mizrahi Jewish ancestry.

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p.G87V和p.Gln298的患病率=居住在洛杉矶周围的中东人群中LIPA基因的变异。
背景:LIPA基因编码溶酶体酸性脂肪酶(LAL),对胆固醇酯和甘油三酯的水解进行催化。LIPA基因的变异损害了LAL的活性,使患者容易患上一种名为LAL缺乏症(LAL-D)的罕见代谢紊乱。缺乏功能性左心耳会促进脂质积聚和随后的血脂异常,这会增加婴儿和成人并发症的可能性。尽管全球出生率为1:500000,但根据162人中LIPA p.G87V变异频率,Mizrahi犹太人口的出生率预计高达每4200例中就有1例(Valles Ayoub等人)。材料和方法:本研究基于外显子4(c.260G>T;p.G87V)和外显子8(c.894G>A;p.Gln298=。在1184个测序的个体样本中,660个自我报告为Mizrahi犹太人,其余524个来自其他被标记为“非犹太人”的中东群体,22个杂合子中有2个(9.09%)是“非犹太人”。外显子8变体中,2个杂合子(100%)是Mizrahi犹太人。这表明LAL-D在该人群中的患病率为1/900,这表明在之前的报告中,在Mizrahi犹太人群中LAL-D可能高4.6%。结论:这些发现表明,与普通人群相比,中东人群中LIPA基因外显子4变异p.G87V的患病率增加,这表明需要对米兹拉希犹太血统的人群进行产前筛查。
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来源期刊
CiteScore
2.50
自引率
7.10%
发文量
63
审稿时长
1 months
期刊介绍: Genetic Testing and Molecular Biomarkers is the leading peer-reviewed journal covering all aspects of human genetic testing including molecular biomarkers. The Journal provides a forum for the development of new technology; the application of testing to decision making in an increasingly varied set of clinical situations; ethical, legal, social, and economic aspects of genetic testing; and issues concerning effective genetic counseling. This is the definitive resource for researchers, clinicians, and scientists who develop, perform, and interpret genetic tests and their results. Genetic Testing and Molecular Biomarkers coverage includes: -Diagnosis across the life span- Risk assessment- Carrier detection in individuals, couples, and populations- Novel methods and new instrumentation for genetic testing- Results of molecular, biochemical, and cytogenetic testing- Genetic counseling
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