Lack of association between the incidence of testicular germ cell tumors and Y‐chromosome haplogroups in the Japanese population

Abstract

Background: Despite being relatively uncommon, testicular germ cell tumors (TGCT) are the most common malignant disease in young men. Epidemiological studies concerning patients with testicular cancer indicate that the most of them have poor semen quality or testicular dysgenesis. However, many studies have shown that the Y chromosome harbors many candidate genes responsible for spermatogenesis process and development and maintenance of the germ cells. The Y chromosome is thought to have a relationship with the formation and progression of TGCT. Materials and methods: To verify this relationship, we investigated if there is any correlation between the Y chromosome structural variations presented as different haplogroups and the occurrence of TGCT in the Japanese population. Using combined haplogroups based on typing of three Y chromosome polymorphic binary markers, we analyzed 68 TGCT derived from Japanese patients together with randomly selected 104 unrelated healthy Japanese matched male controls who were confirmed as residents of the same geographic area. Results: Our findings showed a lack of association between the incidence of TGCT and the different Y-chromosome haplogroups in Japanese population. Conclusion: We concluded that there are no significant variations in males from different Y chromosome lineages regarding their susceptibility or resistance for developing TGCT. The previously hypothesized role of the Y chromosome in the development of TGCT is still uncertain and needs further verification.

Female-specific association among I, J and K mitochondrial genetic haplogroups and cancer: A longitudinal cohort study

“…Recent works have pointed out that certain haplotypes are significantly associated with particular tumor types, above all female-specific tumor types (breast and gynecological cancer [11, 25–28]), while there are no association among haplogroups and male-specific tumor types (prostate and testicular cancer). [14–16, 29] Our findings may be interpreted in the light of these recent works, further highlighting the gender-specific role of haplogroups in influencing the risk of cancer development in females. It has also to be recognized that for some tumor types, there are no specific associations among any haplogroups and patients’ gender (e.g.…”

“…Although several studies have already indicated potential associations among particular mitochondrial haplogroups and the risk of cancer development [3, 6–11], other studies failed to demonstrate such association. [14–16] However, such studies were almost exclusively cross-sectional or case-control studies, and this may have generated a potential bias. Given this background, we aimed to investigate whether any mitochondrial haplogroups carried a significant higher risk of cancer development in a large prospective cohort of North American people included in the Osteoarthritis Initiative.…”

gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study

“…Three studies focused on the role of complete AZF deletions in TGCT, but a relationship with this disease could not be proven [16][17][18]. No association was found between increased risk of TGCT and Y haplogroups neither [19][20][21]. Concerning the partial AZFc deletions, the role of gr/gr deletions in TGCTs is still debated.…”

Testicular germ cell tumors

“…Structural variations (polymorphisms) within the Y chromosome occur in the population, even within similar geographic areas, resulting in different haplogroups. An association between a specific Y-chromosome haplogroup and TGCT risk has not been clearly established, as further demonstrated by a recent study in Japanese men [11]. Male infertility has been implicated as a risk factor in TGCTs.…”