Polymorphisms of collagen 1A1 (COL1A1) gene and their relation to bone mineral density in postmenopausal women

Majchrzycki, Marian; Bartkowiak‐Wieczorek, Joanna; Wolski, Hubert; Drews, Krzysztof; Bogacz, Anna; Czerny, Bogusław; Zagrodnik-Ułan, Edyta; Seremak‐Mrozikiewicz, Agnieszka

doi:10.17772/gp/60550

Cited by 13 publications

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“…Вместе с тем следует указать, что в отдельных работах вышеуказанного влияния полиморфизма Sp1 гена COL1A1 на раз-витие остеопороза и/или на возникновение низко-энергетических переломов все-таки установлено не было [6,8,10]. Отсутствие доказательств роли вы-шеуказанного полиморфизма в развитии остеопо-роза и его осложнений в последних исследованиях объясняется, по всей видимости, сложностью этио-патогенеза заболевания.…”

Section: Discussionunclassified

“…В большинстве выполненных к на-стоящему времени работ отмечается влияние вы-шеуказанного полиморфизма на показатели мине-ральной плотности костной ткани, риск развития остеопороза и/или возникновения низкоэнергети-ческих переломов [8]. В других же работах выше-указанная роль полиморфизма Sp1 гена COL1A1 подтверждения не нашла [6,10]. В странах СНГ внимание данной проблеме уделено недостаточ-но, а имеющиеся единичные публикации [1,4] не позволяют сделать достаточно обоснованные выводы.…”

Section: Introductionunclassified

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Col1a1 Gene Sp1 Polymorphism and Osteoporosis Risk in Postmenopausal Women

Майлян¹

2017

Kuban. nauсh. med. vestnik

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При обследовании 483 женщин в постменопаузе установлено, что с различной степенью достоверности за-щитным эффектом для развития остеопоротических изменений поясничных позвонков L1-L4, костей дистального отдела предплечья, проксимальных отделов левой и правой бедренных костей, в том числе шейки бедра, является наличие генотипа GG и аллеля G полиморфизма 1546 (6252) G>T [Sp1 S>s] гена COL1A1. Предикторами пост-менопаузального остеопороза в различных участках скелета являются генотип GT и аллель Т вышеуказанного полиморфизма. Полученные данные могут быть использованы для выявления предрасположенности к развитию остеопороза у женщин в постменопаузу и повышения эффективности лечебно-профилактических мероприятий.Ключевые слова: ген COL1A1, полиморфизм Sp1, женщины, постменопауза, остеопороз. E. A. MAYLYAN COL1A1 GENE SP1 POLYMORPHISM AND OSTEOPOROSIS RISK IN POSTMENOPAUSAL WOMEN Department of Clinical Immunology, Allergology and Endocrinology Donetsk National Medical Universitynamed after M. Gorky, 283003, Donetsk, Illicha Ave., 16; tel. +38-095-578-72-27; е-mail: mea095@yandex.ru 483 postmenopausal women took part in survey. It was established that GG genotype and G allele of COL1A1 gene 1546 (6252) G>T [Sp1 S>s] polymorphism provide protective effect for osteoporotic changes development at L1-L4 lumbar vertebrae, forearm distal department, left and right femurs proximal departments, including femoral neck. GT genotype and T allele of above-stated polymorphism are postmenopausal osteoporosis predictors in various sites of skeleton. The obtained data can be used for detection of predisposition to osteoporosis development at postmenopausal women and treatment-and-prophylactic actions efficiency rising.

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Section: Discussionunclassified

Section: Introductionunclassified

Col1a1 Gene Sp1 Polymorphism and Osteoporosis Risk in Postmenopausal Women

Майлян¹

2017

Kuban. nauсh. med. vestnik

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“…In an attempt to identify the genes involved in the pathogenesis of OP, a number of candidate genes, such as the vitamin D receptor (VDR) [7], estrogen receptor (ER) [8,9], and collagen type Ia1 (COLIA1) [10,11] genes, have been examined in association and/or linkage studies; however, they were found to be variably associated with BMD and the risk of OP. Together, these genetic variants only account for a small part of the total genetic variance in osteoporosis; other candidate genes require examination of their contribution to explain the genetic basis of OP.…”

Section: Introductionmentioning

confidence: 99%

Purinergic P2X7 receptor functional genetic polymorphisms are associated with the susceptibility to osteoporosis in Chinese postmenopausal women

Gong

et al. 2017

Purinergic Signalling

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Osteoporosis (OP) is a major public health problem worldwide. Genetic factors are considered to be major contributors to the pathogenesis of OP. The purinergic P2X7 receptor (P2X7R) has been shown to play a role in the regulation of osteoblast and osteoclast activity and has been considered as an important candidate gene for OP. A case-control study was performed to investigate the associations of functional single nucleotide polymorphisms (SNPs) in the P2X7R gene (rs2393799, rs7958311, rs1718119, rs2230911, and rs3751143) with susceptibility to OP in 400 Chinese OP patients and 400 controls. Results showed that rs3751143 was associated with OP; in particular, carriers of the C allele and CC/(AC + CC) genotypes were at a higher risk of OP, but no significant association of rs2230911, rs7958311, rs1718119, and rs2393799 with OP risk was observed. Analysis of the haplotypes revealed one haplotype (rs1718119G-rs2230911G-rs3751143C) that appeared to be a significant Brisk^haplotype with OP. The rs3751143 polymorphism was associated with osteoclast apoptosis; ATP-induced caspase-1 activity of osteoclasts with AC and CC genotypes is lower than that of osteoclasts with AA genotype in vitro. The findings suggest that the P2X7R rs3751143 functional polymorphism might contribute to OP susceptibility in Chinese postmenopausal women.

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“…It is observed that the age-related changes in bone tissue result in a decreased resistance to fractures, a lowered bone strength and flexibility, as well as an impaired functioning of collagen fiber networks [5]. It has been shown that COL1A1 and COL1A2 candidate genes are important factors in osteopenia and osteoporosis development and may influence bone metabolism [6].…”

Section: Introductionmentioning

confidence: 99%

The importance of polymorphic variants of collagen 1A2 gene (COL1A2) in the development of osteopenia and osteoporosis in postmenopausal women

et al. 2017

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Polymorphisms of collagen 1A1 (COL1A1) gene and their relation to bone mineral density in postmenopausal women

Abstract: Polimorfizm genu kolagenu 1A1 (COL1A1) i jego związek z gęstością mineralną kości u kobiet po menopauzie

Cited by 13 publications

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Col1a1 Gene Sp1 Polymorphism and Osteoporosis Risk in Postmenopausal Women

Col1a1 Gene Sp1 Polymorphism and Osteoporosis Risk in Postmenopausal Women

Purinergic P2X7 receptor functional genetic polymorphisms are associated with the susceptibility to osteoporosis in Chinese postmenopausal women

The importance of polymorphic variants of collagen 1A2 gene (COL1A2) in the development of osteopenia and osteoporosis in postmenopausal women

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